Genetic Medicine

Publications | Phd and Masters theses

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895 publications

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2013
 
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.
Guen V.J., Gamble C., Flajolet M., Unger S., Thollet A., Ferandin Y., Superti-Furga A., Cohen P.A., Meijer L., Colas P., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (48) pp. 19525-19530. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A92DE51BA5B8]
 
Comment to "Favorable outcome of patients who have 13q deletion: a suggestion for revision of the WHO 'MDS-U' designation" Haematologica. 2012;97(12):1845-9
Holbro A., Jotterand M., Passweg J.R., Buser A., Tichelli A., Rovó A., 2013. Haematologica, 98 (4) pp. e46-e47.
[DOI][WoS][Pmid][serval:BIB_0C0670C0ED41]
Common variants associated with plasma triglycerides and risk for coronary artery disease.
Do R., Willer C.J., Schmidt E.M., Sengupta S., Gao C., Peloso G.M., Gustafsson S., Kanoni S., Ganna A., Chen J. et al., 2013. Nature Genetics, 45 (11) pp. 1345-1352.
[URN][DOI][WoS][Pmid][serval:BIB_5CA22C7D515E]
 
Common variants in mendelian kidney disease genes and their association with renal function.
Parsa A., Fuchsberger C., Köttgen A., O'Seaghdha C.M., Pattaro C., de Andrade M., Chasman D.I., Teumer A., Endlich K., Olden M. et al., 2013. Journal of the American Society of Nephrology, 24 (12) pp. 2105-2117.
[DOI][WoS][Pmid][serval:BIB_A6FEE2A2AE69]
 
Comparative genetic analyses point to HCP5 as susceptibility locus for HCV-associated hepatocellular carcinoma.
Lange C.M., Bibert S., Dufour J.F., Cellerai C., Cerny A., Heim M.H., Kaiser L., Malinverni R., Müllhaupt B., Negro F. et al., 2013. Journal of Hepatology, 59 (3) pp. 504-509.
[DOI][WoS][Pmid][serval:BIB_223719F6DDDB]
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B., Su C.T., Van Damme T., Vlummens P., Malfait F., Vanakker O., Schulz B., Mac Neal M., Davis E.C., Lee J.G. et al., 2013. Human Mutation, 34 (1) pp. 111-121.
[URN][DOI][WoS][Pmid][serval:BIB_29E186913C08]
Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia
Bhuiyan Z.A., Al-Shahrani S., Al-Aama J., Wilde A.A.M., Momenah T.S., 2013. Frontiers In Pediatrics, 1 p. 39. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_42894F14E24F]
Discovery and refinement of loci associated with lipid levels.
Global Lipids Genetics Consortium, Willer C.J., Willer C.J., Schmidt E.M., Sengupta S., Peloso G.M., Gustafsson S., Kanoni S., Ganna A., Chen J. et al., 2013. Nature Genetics, 45 (11) pp. 1274-1283.
[URN][DOI][WoS][Pmid][serval:BIB_4F479093D7BD]
Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia.
Watanabe H., van der Werf C., Roses-Noguer F., Adler A., Sumitomo N., Veltmann C., Rosso R., Bhuiyan Z.A., Bikker H., Kannankeril P.J. et al., 2013. Heart Rhythm, 10 (4) pp. 542-547. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_17794FE773EE]
 
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development.
Unger S., Górna M.W., Le Béchec A., Do Vale-Pereira S., Bedeschi M.F., Geiberger S., Grigelioniene G., Horemuzova E., Lalatta F., Lausch E. et al., 2013. American Journal of Human Genetics, 92 (6) pp. 990-995.
[DOI][WoS][Pmid][serval:BIB_CD1DA3031C71]
 
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Garavelli L., Simonte G., Rosato S., Wischmeijer A., Albertini E., Guareschi E., Longo C., Albertini G., Gelmini C., Greco C. et al., 2013. American Journal of Medical Genetics. Part A, 161 (7) pp. 1750-1754. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5AE612E6DE45]
 
Fraser syndrome: epidemiological study in a European population.
Barisic I., Odak L., Loane M., Garne E., Wellesley D., Calzolari E., Dolk H., Addor M.C., Arriola L., Bergman J. et al., 2013. American Journal of Medical Genetics. Part A, 161A (5) pp. 1012-1018.
[DOI][WoS][Pmid][serval:BIB_30B47A4EAB92]
 
GNAL deletion as a possible cause of dystonia in a patient with the 18p- syndrome
Wider C, Esposito F, Addor MC, Humm AM, Vingerhoets F, 2013. dans Parkinson's meeting, Geneva 2013.
[serval:BIB_536B8431E53E]
 
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
Dikoglu E., Simsek-Kiper P.O., Utine G.E., Campos-Xavier B., Boduroglu K., Bonafé L., Superti-Furga A., Unger S., 2013. American Journal of Medical Genetics. Part A, 161A (12) pp. 3161-3165. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_38C4C1110B93]
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
den Hoed M., Eijgelsheim M., Esko T., Brundel B.J., Peal D.S., Evans D.M., Nolte I.M., Segrè A.V., Holm H., Handsaker R.E. et al., 2013. Nature Genetics, 45 (6) pp. 621-631. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9C345D77E5E2]
 
IKs in Heart and Hearing, the Ear Can Do with Less than the Heart.
Bhuiyan Z.A., Wilde A.A., 2013. Circulation. Cardiovascular Genetics, 6 (2) pp. 141-143.
[DOI][WoS][Pmid][serval:BIB_765DD82D5759]
 
Impact of Balanced or Unbalanced Karyotype At Diagnosis On Prognosis of CML: Long-Term Observation From 1346 Patients of the Randomized CML Study IV
Fabarius A., Haferlach C., Hochhaus A., Muller M.C., Hanfstein B., Gohring G., Schlegelberger B., Jotterrand M., Proetel U., Hofmann W.K. et al., 2013. pp. Abstract 913 dans ASH 2012, 54th Annual Meeting of the American Society of Hematology, Blood.
[WoS][serval:BIB_4D9C4F9C812D]
Influence of CRTC1 Polymorphisms on Body Mass Index and Fat Mass in Psychiatric Patients and the General Adult Population.
Choong E., Quteineh L., Cardinaux J.R., Gholam-Rezaee M., Vandenberghe F., Dobrinas M., Bondolfi G., Etter M., Holzer L., Magistretti P. et al., 2013. JAMA Psychiatry, 70 (10) pp. 1011-1019. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1BC1C0DFA15B]
 
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M., Mizumoto S., Miyake N., Kogawa R., Iida A., Ito H., Kitoh H., Hirayama A., Mitsubuchi H., Miyazaki O. et al., 2013. American Journal of Human Genetics, 92 (6) pp. 927-934. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E9557C71FA1B]
 
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Kannu P., Campos-Xavier A.B., Hull D., Martinet D., Ballhausen D., Bonafé L., 2013. European Journal of Medical Genetics, 56 (8) pp. 452-457. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6F6E1036FB5F]
 
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Savoldi G., Izzi C., Signorelli M., Bondioni M.P., Romani C., Lanzi G., Moratto D., Verdoni L., Pinotti M., Prefumo F. et al., 2013. American Journal of Medical Genetics. Part A, 161 (10) pp. 2614-2619. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_72D0D5C4D91F]
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
Walters R.G., Coin L.J., Ruokonen A., de Smith A.J., El-Sayed Moustafa J.S., Jacquemont S., Elliott P., Esko T., Hartikainen A.L., Laitinen J. et al., 2013. Plos One, 8 (3) pp. e58048.
[URN][DOI][WoS][Pmid][serval:BIB_0257103FC0D5]
 
Recent decrease in the prevalence of congenital heart defects in europe.
Khoshnood B., Loane M., Garne E., Addor M.C., Arriola L., Bakker M., Barisic I., Bianca S., Boyd P., Calzolari E. et al., 2013. Journal of Pediatrics, 162 (1) pp. 108-113.e2.
[DOI][WoS][Pmid][serval:BIB_817247D62FEE]
 
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.
Dauber A., Golzio C., Guenot C., Jodelka F.M., Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk M.J., Rosenfeld J.A. et al., 2013. American Journal of Human Genetics, 93 (5) pp. 798-811. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CFDAC5AB879E]
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Randall J.C., Winkler T.W., Kutalik Z., Berndt S.I., Jackson A.U., Monda K.L., Kilpeläinen T.O., Esko T., Mägi R., Li S. et al., 2013. Plos Genetics, 9 (6) pp. e1003500.
[URN][DOI][WoS][Pmid][serval:BIB_9D9E2CFE0188]
 
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire E.A., Lupo V., Calpena E., Bartesaghi L., Schüpfer F., Médard J.J., Maurer F., Beckmann J.S., Senderek J., Palau F. et al., 2013. Glia, 61 (7) pp. 1041-1051. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E89DF13F8E2E]
 
Short stature, complex cardiac defects, and developmental delay associated with a de novo microduplication of chromosome 15q13.2q13
Hauschild M, Martinet D, Phan Hug F, Stoppa S, Cassatella D, Dwyer A, Pitteloud N, Addor MC, 2013. dans Congrès de la Société Suisse d'endocrinologie pédiatrique, Septembre 2013.
[serval:BIB_44463DC58A99]
 
Syndrome of birt-hogg-dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
Spring P., Fellmann F., Giraud S., Clayton H., Hohl D., 2013. American Journal of Dermatopathology, 35 (2) pp. 241-245.
[DOI][WoS][Pmid][serval:BIB_D97FC4BE1644]
 
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P., Aral B., Hanna N., Lambert S., Dindy H., Ragon C., Payet M., Collod-Beroud G., Carmignac V., Delrue M. et al., 2013. Clinical Genetics, 84 (6) pp. 507-521.
[DOI][WoS][Pmid][serval:BIB_60522D796537]
The challenges of clinical trials in fragile X syndrome
Jacquemont S., Berry-Kravis E., Hagerman R., von Raison F., Gasparini F., Apostol G., Ufer M., Des Portes V., Gomez-Mancilla B., 2013. Psychopharmacology, 231 (6) pp. 1237-1250. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1D79C9FAA05E]
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.
Valsesia A., Macé A., Jacquemont S., Beckmann J.S., Kutalik Z., 2013. Frontiers in Genetics, 4 p. 92. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_3366F05BAD80]
 
Transmission disequilibrium of small CNVs in simplex autism.
Krumm N., O'Roak B.J., Karakoc E., Mohajeri K., Nelson B., Vives L., Jacquemont S., Munson J., Bernier R., Eichler E.E., 2013. American Journal of Human Genetics, 93 (4) pp. 595-606.
[DOI][WoS][Pmid][serval:BIB_171C62205E69]
 
Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.
Boyle B., McConkey R., Garne E., Loane M., Addor M.C., Bakker M.K., Boyd P.A., Gatt M., Greenlees R., Haeusler M. et al., 2013. BJOG, 120 (6) pp. 707-716.
[DOI][WoS][Pmid][serval:BIB_8021A5770D87]
 
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.
Loane M., Morris J.K., Addor M.C., Arriola L., Budd J., Doray B., Garne E., Gatt M., Haeusler M., Khoshnood B. et al., 2013. European Journal of Human Genetics, 21 (1) pp. 27-33.
[DOI][WoS][Pmid][serval:BIB_26090D92EF2B]
 
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K., Murray A., Hanks S., Douglas J., Armstrong R., Banka S., Bird L.M., Clericuzio C.L., Cormier-Daire V., Cushing T. et al., 2013. American Journal of Medical Genetics. Part A, 161A (12) pp. 2972-2980.
[DOI][WoS][Pmid][serval:BIB_FFE9E5A8B5E3]
 
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi K.M., Tearle R.G., Liu Y.P., Oh E.C., Miyake N., Benaglio P., Harper S., Koskiniemi-Kuendig H., Venturini G., Sharon D. et al., 2013. Proceedings of the National Academy of Sciences of the United States of America, 110 (40) pp. 16139-16144. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6A11A7D60B9D]
 
Whole-genome sequencing in health care.
van El C.G., Cornel M.C., Borry P., Hastings R.J., Fellmann F., Hodgson S.V., Howard H.C., Cambon-Thomsen A., Knoppers B.M., Meijers-Heijboer H. et al., 2013. European Journal of Human Genetics, 21 (6) pp. 580-584.
[DOI][WoS][Pmid][serval:BIB_00D17A4199FF]
2012
 
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M., Hoogeveen-Westerveld M., Michelakakis H., Pomponio R., Van der Ploeg A., Halley D., Reuser A., GAA Database Consortium, 2012/08. Human mutation, 33 (8) pp. 1161-1165. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_89C63A2AA69E]
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Okada Y., Sim X., Go M.J., Wu J.Y., Gu D., Takeuchi F., Takahashi A., Maeda S., Tsunoda T., Chen P. et al., 2012/07/15. Nature genetics, 44 (8) pp. 904-909. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_D0781ADDDA56]
 
The phenomenon of "QT stunning": the abnormal QT prolongation provoked by standing persists even as the heart rate returns to normal in patients with long QT syndrome.
Adler A., van der Werf C., Postema P.G., Rosso R., Bhuiyan Z.A., Kalman J.M., Vohra J.K., Guevara-Valdivia M.E., Marquez M.F., Halkin A. et al., 2012/06. Heart rhythm, 9 (6) pp. 901-908. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_38514C4B0695]
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J. et al., 2012. Journal of Medical Genetics, 49 (10) pp. 660-668. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_26004E3F396F]
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Teirlinck C.H., Senni F., Malti R.E., Majoor-Krakauer D., Fellmann F., Millat G., André-Fouët X., Pernot F., Stumpf M., Boutarin J. et al., 2012. BMC Medical Genetics, 13 (105) pp. 1-9.
[URN][DOI][WoS][Pmid][serval:BIB_21010160EA4C]
 
A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability.
Ehret G.B., Lamparter D., Hoggart C.J., Genetic Investigation of Anthropometric Traits Consortium, Whittaker J.C., Whittaker J.C., Beckmann J.S., Kutalik Z., 2012. American Journal of Human Genetics, 91 (5) pp. 863-871.
[DOI][WoS][Pmid][serval:BIB_D4DFE0570968]
 
Adams-Oliver syndrome and associated malformations
Wolf N, Addor MC, Christen-Zäch S, 2012. dans Congrès de la Société Suisse de Dermatologie, Bern 2012.
[serval:BIB_041AF9BBB5DC]
Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival.
Christensen N., Andersen H., Garne E., Wellesley D., Addor M.C., Haeusler M., Khoshnood B., Mullaney C., Rankin J., Tucker D., 2012. Cardiology in the Young, 23 (4) pp. 560-567. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_85F3D69E0E97]
 
Cardiogene: an innovative multidisciplinary consultation for genetic arrhythmias
Sekarski N., Schlaepfer J., Di Bernardo S., Boulos T., Mivelaz Y., Michaud K., Bhuiyan ZA., Fellmann F., 2012. p. 27 dans Annual meeting of the Swiss Society of Paediatrics, Swiss Medical Weekly.
[serval:BIB_AC976E17D143]
Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.
Marek D., Papin S., Ellefsen K., Niederhauser J., Isidor N., Ransijn A., Poupon L., Spertini F., Pantaleo G., Bergmann S. et al., 2012. Journal of Neuroinflammation, 9 p. 238. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_ADF180AFD031]
 
Clinical and radiological findings in Pallister-Killian syndrome.
Jamuar S., Lai A., Unger S., Nishimura G., 2012. European Journal of Medical Genetics, 55 (3) pp. 167-172.
[DOI][WoS][Pmid][serval:BIB_EB71048AA46F]
 
Concomitant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital adrenal hyperplasia (CAH) in a young girl
Decarli Diserens M, Addor MC, Stoppa S, Phan-Hug F, Pitteloud N, Hauschild M, 2012. dans Congrès de la Société Suisse de Pédiatrie, Lucerne 2012.
[serval:BIB_307DBF7093FF]
Coronary heart disease in primary care: accuracy of medical history and physical findings in patients with chest pain - a study protocol for a systematic review with individual patient data.
Haasenritter J., Aerts M., Bösner S., Buntinx F., Burnand B., Herzig L., Knottnerus J.A., Minalu G., Nilsson S., Renier W. et al., 2012. BMC Family Practice, 13 pp. art. 81 [10 p.]. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_16F50B3AB523]
Detecting and measuring deprivation in primary care: development, reliability and validity of a self-reported questionnaire: the DiPCare-Q
Vaucher P., Bischoff T., Diserens E.A., Herzig L., Meystre-Agustoni G., Panese F., Favrat B., Sass C., Bodenmann P., 2012. BMJ Open, 2 (1) pp. e000692. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0C90CBBAD95F]
 
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel P.B., Morgan T., Alanay Y., Bijlsma E., Cho T.J., Cole T., Collins F., David A., Devriendt K., Faivre L. et al., 2012. Human Mutation, 33 (4) pp. 665-673.
[DOI][WoS][Pmid][serval:BIB_F0B42A9FCABF]
 
Dépistage prénatal du 1er trimestre : quel bénéfice au passage à un nouveau logiciel ?
Capoccia Brugger R, Lepigeon K, Francini K, Guenot C, Farin A, Rey F, Addor MC, Fehlmann F, Hohlfeld P, Vial Y, 2012. dans Congrès de la Société Suisse de Gynécologie et Obstétrique, Interlaken 2012.
[serval:BIB_F1711040B0FB]
 
Epidemiology of small intestinal atresia in Europe: a register-based study.
Best K.E., Tennant P.W., Addor M.C., Bianchi F., Boyd P., Calzolari E., Dias C.M., Doray B., Draper E., Garne E. et al., 2012. Archives of Disease In Childhood. Fetal and Neonatal Edition, 97 (5) pp. F353-F358.
[DOI][WoS][Pmid][serval:BIB_2268F57EDE66]
 
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
van der Werf C., Nederend I., Hofman N., van Geloven N., Ebink C., Frohn-Mulder I.M., Alings A.M., Bosker H.A., Bracke F.A., van den Heuvel F. et al., 2012. Circulation. Arrhythmia and Electrophysiology, 5 (4) pp. 748-756. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5312E787FD56]
 
FTO genotype is associated with phenotypic variability of body mass index.
Yang J., Loos R.J., Powell J.E., Medland S.E., Speliotes E.K., Chasman D.I., Rose L.M., Thorleifsson G., Steinthorsdottir V., Mägi R. et al., 2012. Nature, 490 (7419) pp. 267-272.
[DOI][WoS][Pmid][serval:BIB_C2FCD67DF461]
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
Nishiguchi K.M., Rivolta C., 2012. Plos One, 7 (7) pp. e41902. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_104D693F8323]
 
Genetic testing in patients with obesity.
Phan-Hug F., Beckmann J.S., Jacquemont S., 2012. Best Practice and Research. Clinical Endocrinology and Metabolism, 26 (2) pp. 133-143.
[DOI][WoS][Pmid][serval:BIB_68A46A83BA72]
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Fox C.S., Liu Y., White C.C., Feitosa M., Smith A.V., Heard-Costa N., Lohman K., GIANT Consortium, MAGIC Consortium, GLGC Consortium et al., 2012. Plos Genetics, 8 (5) pp. e1002695. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BAF4921EBDF5]
Genome-wide meta-analysis of common variant differences between men and women.
Boraska V., Jerončić A., Colonna V., Southam L., Nyholt D.R., Rayner N.W., Perry J.R., Toniolo D., Albrecht E., Ang W. et al., 2012. Human Molecular Genetics, 21 (21) pp. 4805-4815.
[URN][DOI][WoS][Pmid][serval:BIB_2CA8E459946D]
 
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
Salvi E., Kutalik Z., Glorioso N., Benaglio P., Frau F., Kuznetsova T., Arima H., Hoggart C., Tichet J., Nikitin Y.P. et al., 2012. Hypertension, 59 (2) pp. 248-255. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7BFB71DF48D8]
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.
Valsesia A., Stevenson B.J., Waterworth D., Mooser V., Vollenweider P., Waeber G., Jongeneel C.V., Beckmann J.S., Kutalik Z., Bergmann S., 2012. Bmc Genomics, 13 (241) p. 241. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B4A4552A9706]
JNK3 maintains expression of the insulin receptor substrate 2 (IRS2) in insulin-secreting cells: functional consequences for insulin signaling.
Abdelli S., Bonny C., 2012. PLoS One, 7 (5) pp. e35997.
[URN][DOI][WoS][Pmid][serval:BIB_F9392AF6B888]
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Golzio C., Willer J., Talkowski M.E., Oh E.C., Taniguchi Y., Jacquemont S., Reymond A., Sun M., Sawa A., Gusella J.F. et al., 2012. Nature, 485 (7398) pp. 363-367.
[URN][DOI][WoS][Pmid][serval:BIB_FE45367483B8]
 
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
Scott R.A., Lagou V., Welch R.P., Wheeler E., Montasser M.E., Luan J., Mägi R., Strawbridge R.J., Rehnberg E., Gustafsson S. et al., 2012. Nature Genetics, 44 (9) pp. 991-1005.
[DOI][WoS][Pmid][serval:BIB_BEBA1C67CD92]
 
Les tests génétiques peuvent-ils être utiles pour la prévention cardiovasculaire? [Are genetic tests useful for cardiovascular prevention?].
Bochud Murielle, Fellmann Florence, Guessous Idris, 2012. Revue médicale suisse, 8 (331) pp. 519-20, 522-4.
[Pmid][serval:BIB_62E7AC450B47]
Mapping genetic variants associated with beta-adrenergic responses in inbred mice.
Hersch M., Peter B., Kang H.M., Schüpfer F., Abriel H., Pedrazzini T., Eskin E., Beckmann J.S., Bergmann S., Maurer F., 2012. Plos One, 7 (7) pp. e41032.
[URN][DOI][WoS][Pmid][serval:BIB_F62EE85BCBC4]
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Stolk L., Perry J.R., Chasman D.I., He C., Mangino M., Sulem P., Barbalic M., Broer L., Byrne E.M., Ernst F. et al., 2012. Nature Genetics, 44 (3) pp. 260-268.
[URN][DOI][WoS][Pmid][serval:BIB_F3EFAC2A846A]
 
Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.
Stalder N., Yarol N., Tozzi P., Rotman S., Morris M., Fellmann F., Schwitter J., Hullin R., 2012. Circulation. Heart Failure, 5 (1) pp. e1-e3.
[DOI][WoS][Pmid][serval:BIB_6E38D26D6857]
 
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A., Duncan E.L., Leo P.J., Clark G.R., Glazov E.A., Addor M.C., Herlin T., Kim C.A., Leheup B.P., McGill J. et al., 2012. American Journal of Human Genetics, 90 (3) pp. 494-501.
[DOI][WoS][Pmid][serval:BIB_E0478DDFD428]
 
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C., Mahaut C., Abhyankar A., Le Goff W., Serre V., Afenjar A., Destrée A., di Rocco M., Héron D., Jacquemont S. et al., 2012. Nature Genetics, 44 (1) pp. 85-88.
[DOI][WoS][Pmid][serval:BIB_1D9C680D06D5]
 
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J. et al., 2012. Nature Genetics, 44 (3) pp. 338-342. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9DCDA709F4F3]
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G., De la Dure-Molla M., Parry D., Quentric M., Himmerkus N., Koike T., Poulter J., Klootwijk E., Robinette S.L., Howie A.J. et al., 2012. Nephron. Physiology, 122 (1-2) pp. 1-6.
[URN][DOI][WoS][Pmid][serval:BIB_DCEC597C1254]
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
Tassone F., Greco C.M., Hunsaker M.R., Seritan A.L., Berman R.F., Gane L.W., Jacquemont S., Basuta K., Jin L.W., Hagerman P.J. et al., 2012. Genes, Brain, and Behavior, 11 (5) pp. 577-585.
[URN][DOI][WoS][Pmid][serval:BIB_6EA57424A785]
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Dastani Z., Hivert M.F., Timpson N., Perry J.R., Yuan X., Scott R.A., Henneman P., Heid I.M., Kizer J.R., Lyytikäinen L.P. et al., 2012. Plos Genetics, 8 (3) pp. e1002607. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_22F2CC6BB4EC]
 
Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions.
Pedersen R.N., Calzolari E., Husby S., Garne E., EUROCAT Working group, 2012. Archives of Disease in Childhood, 97 (3) pp. 227-232.
[DOI][WoS][Pmid][serval:BIB_452998EFD430]
 
Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene.
Leong D.W., Komen J.C., Hewitt C.A., Arnaud E., McKenzie M., Phipson B., Bahlo M., Laskowski A., Kinkel S.A., Davey G.M. et al., 2012. Journal of Biological Chemistry, 287 (24) pp. 20652-20663.
[DOI][WoS][Pmid][serval:BIB_00C6EC654B10]
 
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Wellesley D., Dolk H., Boyd P.A., Greenlees R., Haeusler M., Nelen V., Garne E., Khoshnood B., Doray B., Rissmann A. et al., 2012. European Journal of Human Genetics : Ejhg, 20 (5) pp. 521-526.
[DOI][WoS][Pmid][serval:BIB_079DC291A483]
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P., Kulkarni S., Dharmadhikari A.V., Sampath S., Bhatt S.S., Shaikh T.H., Xia Z., Pursley A.N., Cooper M.L., Shinawi M. et al., 2012. Human Mutation, 33 (1) pp. 165-179.
[URN][DOI][WoS][Pmid][serval:BIB_821E7FE324C6]
Role of JNK isoforms in the development of neuropathic pain following sciatic nerve transection in the mouse.
Manassero G., Repetto I.E., Cobianchi S., Valsecchi V., Bonny C., Rossi F., Vercelli A., 2012. Molecular Pain, 8 (1) p. 39.
[URN][DOI][WoS][Pmid][serval:BIB_DBDB5C1D0726]
Selective acquired long QT syndrome (saLQTS) upon risperidone treatment.
Lazarczyk M.J., Bhuiyan Z.A., Perrin N., Giannakopoulos P., 2012. Bmc Psychiatry, 12 p. 220. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_38333B511444]
Seventy-five genetic loci influencing the human red blood cell.
van der Harst P., Zhang W., Mateo Leach I., Rendon A., Verweij N., Sehmi J., Paul D.S., Elling U., Allayee H., Li X. et al., 2012. Nature, 492 (7429) pp. 369-375. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A33D6D054D38]
 
Silent mutation in long QT syndrome: Pathogenicity prediction by computer simulation.
Bhuiyan Z.A., 2012. Heart Rhythm, 9 (2) pp. 283-4.
[DOI][WoS][Pmid][serval:BIB_8B7840CBC959]
 
SOMATIC MUTATIONS IN THE KREBS CYCLE ENZYME ISOCITRATE DEHYDROGENASE 1 (IDH1) CAUSE METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Bonafe L., Vissers L. E. L. M., Dionisi-Vici C., Martinelli D., Barbuti D., Fano V, Sass J. O., Ballhausen D., Suarez P., Campos-Xavier A. B. et al., 2012. pp. S143 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Diseases.
[WoS][serval:BIB_ADE4A4BE7822]
 
Spectrum of congenital anomalies in pregnancies with pregestational diabetes.
Garne E., Loane M., Dolk H., Barisic I., Addor M.C., Arriola L., Bakker M., Calzolari E., Matias Dias C., Doray B. et al., 2012. Birth Defects Research. Part A, Clinical and Molecular Teratology, 94 (3) pp. 134-140.
[DOI][WoS][Pmid][serval:BIB_A0BD24C0B9F7]
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
DeScipio C., Conlin L., Rosenfeld J., Tepperberg J., Pasion R., Patel A., McDonald M.T., Aradhya S., Ho D., Goldstein J. et al., 2012. American Journal of Medical Genetics. Part A, 158A (9) pp. 2152-2161.
[URN][DOI][WoS][Pmid][serval:BIB_CD56226D884A]
 
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N., Mittaz L., Campos-Xavier A.B., Bartels C.F., Tuysuz B., Alanay Y., Cimaz R., Cormier-Daire V., Di Rocco M., Duba H.C. et al., 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160 (3) pp. 217-229.
[DOI][WoS][Pmid][serval:BIB_FEEB9785A014]
 
TRPV4-associated skeletal dysplasias.
Nishimura G., Lausch E., Savarirayan R., Shiba M., Spranger J., Zabel B., Ikegawa S., Superti-Furga A., Unger S., 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160 (3) pp. 190-204.
[DOI][WoS][Pmid][serval:BIB_54EF1FB63B79]
2011
 
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Kutalik Z., Benyamin B., Bergmann S., Mooser V., Waeber G., Montgomery G.W., Martin N.G., Madden P.A., Heath A.C., Beckmann J.S. et al., 2011/09/15. Human molecular genetics, 20 (18) pp. 3710-3717. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4CBEDBD36408]
 
Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.
Loane M., Dolk H., Garne E., Greenlees R., EUROCAT Working Group, 2011/03. Birth Defects Research. Part A, Clinical and Molecular Teratology, 91 Suppl 1 (Suppl. 1) pp. S23-S30.
[DOI][WoS][Pmid][serval:BIB_22E86167C97E]
 
Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe.
Loane M., Dolk H., Kelly A., Teljeur C., Greenlees R., Densem J., EUROCAT Working Group, 2011/03. Birth Defects Research. Part A, Clinical and Molecular Teratology, 91 (Suppl. 1) pp. S31-S43.
[DOI][WoS][Pmid][serval:BIB_867A278B0D0F]
 
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E. et al., 2011/02. American journal of medical genetics. Part A, 155A (2) pp. 332-336. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_194EA325CA25]
16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Zufferey F., Martinet D., Osterheld M.C., Niel-Bütschi F., Giannoni E., Schmutz N.B., Xia Z., Beckmann J.S., Shaw-Smith C., Stankiewicz P. et al., 2011. Pediatric Critical Care Medicine, 12 (6) pp. e427-e432.
[URN][DOI][WoS][Pmid][serval:BIB_747CB93CF782]
 
Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers.
Hoff J.M., Loane M., Gilhus N.E., Rasmussen S., Daltveit A.K., 2011. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 159 (2) pp. 347-350.
[DOI][WoS][Pmid][serval:BIB_D2016B296276]
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.
Böger C.A., Gorski M., Li M., Hoffmann M.M., Huang C., Yang Q., Teumer A., Krane V., O'Seaghdha C.M., Kutalik Z. et al., 2011. Plos Genetics, 7 (9) pp. e1002292. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_CB7DEB898419]
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
Fox E.R., Young J.H., Li Y., Dreisbach A.W., Keating B.J., Musani S.K., Liu K., Morrison A.C., Ganesh S., Kutlar A. et al., 2011. Human Molecular Genetics, 20 (11) pp. 2273-2284. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_AE8CBFCBEF3C]
 
Axial spondylometaphyseal dysplasia: Additional reports.
Suzuki S., Kim O.H., Makita Y., Saito T., Lim G.Y., Cho T.J., Al-Swaid A., Alrasheed S., Sadoon E., Miyazaki O. et al., 2011. American Journal of Medical Genetics. Part A, 155 (10) pp. 2521-2528.
[DOI][WoS][Pmid][serval:BIB_D07010E429A3]
 
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP.
Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S. et al., 2011. American Journal of Human Genetics, 88 (5) pp. 608-615.
[DOI][WoS][Pmid][serval:BIB_0ADE405CADD3]
 
Clarity and claims in variation/mutation databasing.
Dalgleish R., Oetting W.S., Auerbach A.D., Beckmann J.S., Cambon-Thomsen A., Devereau A., Greenblatt M.S., Patrinos G.P., Taylor G.R., Vihinen M. et al., 2011. Nature Biotechnology, 29 (9) pp. 790-792.
[DOI][WoS][Pmid][serval:BIB_33BFF37FDB3F]
 
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
Jacquemont S., Birnbaum S., Redler S., Steinbach P., Biancalana V., 2011. European Journal of Human Genetics, 19 (9) pp. --.
[DOI][WoS][Pmid][serval:BIB_0E7921255E59]
 
Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005.
Dolk H., Loane M., Garne E., European Surveillance of Congenital Anomalies (EUROCAT) Working Group, 2011. Circulation, 123 (8) pp. 841-849.
[DOI][WoS][Pmid][serval:BIB_4EB3C5A900D6]
 
CUBN is a gene locus for albuminuria.
Böger C.A., Chen M.H., Tin A., Olden M., Köttgen A., de Boer I.H., Fuchsberger C., O'Seaghdha C.M., Pattaro C., Teumer A. et al., 2011. Journal of the American Society of Nephrology, 22 (3) pp. 555-570. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_61D7BB6FF101]
 
Desmosomal mutations across the fence.
Bhuiyan Z.A., Wilde A.A., 2011. Heart Rhythm, 8 (8) pp. 1222-1223.
[DOI][WoS][Pmid][serval:BIB_E37409BB6358]
 
Differences in pandemic influenza vaccination policies for pregnant women in Europe.
Luteijn J.M., Dolk H., Marnoch G.J., Eurocat Registry (Addor MC included), 2011. BMC Public Health, 11 p. 819.
[DOI][WoS][Pmid][serval:BIB_D587578A4D5B]
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.
Ferrarini A., Auteri-Kaczmarek A., Pica A., Boesch N., Heinimann K., Schäfer S.C., Vesnaver-Megalo S., Cina V., Beckmann J.S., Monnerat C., 2011. Familial Cancer, 10 (2) pp. 187-192.
[URN][DOI][WoS][Pmid][serval:BIB_28AEEE440C11]
 
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K., He Y., Paulding C. et al., 2011. Science Translational Medicine, 3 (64) pp. 64ra1.
[DOI][WoS][Pmid][serval:BIB_945CB8727509]
 
Familial aplasia of the trapezius muscle: clinical and MRI findings.
Newman C.J., Jacquemont S., Theumann N., Jeannet P.Y., 2011. Acta Paediatrica, 100 (3) pp. 464-466.
[DOI][WoS][Pmid][serval:BIB_1BECC178C955]
 
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Unger S., Lausch E., Stanzial F., Gillessen-Kaesbach G., Stefanova I., Di Stefano C.M., Bertini E., Dionisi-Vici C., Nilius B., Zabel B. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2860-2864.
[DOI][WoS][Pmid][serval:BIB_B8559E835001]
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret G.B., Munroe P.B., Rice K.M., Bochud M., Johnson A.D., Chasman D.I., Smith A.V., Tobin M.D., Verwoert G.C. et al., 2011. Nature, 478 (7367) pp. 103-109. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1DC9105514C9]
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Kilpeläinen T.O., Zillikens M.C., Stančákova A., Finucane F.M., Ried J.S., Langenberg C., Zhang W., Beckmann J.S., Luan J., Vandenput L. et al., 2011. Nature Genetics, 43 (8) pp. 753-760.
[URN][DOI][WoS][Pmid][serval:BIB_342B86FD2B66]
 
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Wain L.V., Verwoert G.C., O'Reilly P.F., Shi G., Johnson T., Johnson A.D., Bochud M., Rice K.M., Henneman P., Smith A.V. et al., 2011. Nature Genetics, 43 (10) pp. 1005-1011. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DBEEF95D2F27]
 
Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML Study IV.
Fabarius A., Leitner A., Hochhaus A., Müller M.C., Hanfstein B., Haferlach C., Göhring G., Schlegelberger B., Jotterand M., Reiter A. et al., 2011. Blood, 118 (26) pp. 6760-6768. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4B6F6657EE5D]
 
In situ RHAMM protein expression in acute myeloid leukemia blasts suggests poor overall survival.
Tzankov A., Strasser U., Dirnhofer S., Menter T., Arber C., Jotterand M., Rovo A., Tichelli A., Stauder R., Günthert U., 2011. Annals of Hematology, 90 (8) pp. 901-909.
[DOI][WoS][Pmid][serval:BIB_E2683113CC1E]
 
Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.
Chrast R., Saher G., Nave K.A., Verheijen M.H., 2011. Journal of Lipid Research, 52 (3) pp. 419-434.
[DOI][WoS][Pmid][serval:BIB_8903A86C970E]
 
Methods for testing association between uncertain genotypes and quantitative traits.
Kutalik Z., Johnson T., Bochud M., Mooser V., Vollenweider P., Waeber G., Waterworth D., Beckmann J.S., Bergmann S., 2011. Biostatistics, 12 (1) pp. 1-17. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3B14FBDAAC90]
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S., Reymond A., Zufferey F., Harewood L., Walters R.G., Kutalik Z., Martinet D., Shen Y., Valsesia A., Beckmann N.D. et al., 2011. Nature, 478 (7367) pp. 97-102.
[URN][DOI][WoS][Pmid][serval:BIB_9700E363D9A2]
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Thonberg H., Fallström M., Björkström J., Schoumans J., Nennesmo I., Graff C., 2011. BMC Research Notes, 4 (476) pp. 1-9.
[URN][DOI][Pmid][serval:BIB_2B21B4515D23]
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K., Hanks S., Ruark E., Barros-Núñez P., Elliott A., Murray A., Lane A.H., Shannon N., Callier P., Chitayat D. et al., 2011. Nature Genetics, 43 (6) pp. 527-529.
[URN][DOI][WoS][Pmid][serval:BIB_7016C1743532]
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A., Rimoldi D., Martinet D., Ibberson M., Benaglio P., Quadroni M., Waridel P., Gaillard M., Pidoux M., Rapin B. et al., 2011. PLoS One, 6 (4) pp. e18369. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5E0D3CDAAC7D]
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman M.L., Cormier-Daire V., Hall C., Krakow D., Lachman R., Lemerrer M., Mortier G., Mundlos S., Nishimura G., Rimoin D.L. et al., 2011. American Journal of Medical Genetics. Part A, 155 (5) pp. 943-968.
[URN][DOI][WoS][Pmid][serval:BIB_31F9B1D3B25E]
 
Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.
Khoshnood B., Greenlees R., Loane M., Dolk H., EUROCAT Project Management Committee, EUROCAT Working Group, 2011. Birth Defects Research. Part A, Clinical and Molecular Teratology, 91 Suppl 1 (Suppl. 1) pp. S16-S22.
[DOI][WoS][Pmid][serval:BIB_08AB4025C17A]
 
Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases.
Garne E., Dolk H., Loane M., Wellesley D., Barisic I., Calzolari E., Densem J., EUROCAT Working Group, 2011. Birth Defects Research. Part A, Clinical and Molecular Teratology, 91 Suppl 1 (Suppl. 1) pp. S44-S50.
[DOI][WoS][Pmid][serval:BIB_D4298628504B]
 
Paper 6: EUROCAT member registries: organization and activities.
Greenlees R., Neville A., Addor M.C., Amar E., Arriola L., Bakker M., Barisic I., Boyd P.A., Calzolari E., Doray B. et al., 2011. Birth Defects Research. Part A, Clinical and Molecular Teratology, 91 (Suppl. 1) pp. S51-S100.
[DOI][WoS][Pmid][serval:BIB_4FA4255CB1F0]
 
Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.
Grilo L.S., Schläpfer J., Fellmann F., Abriel H., 2011. Annals of Noninvasive Electrocardiology, 16 (2) pp. 213-218.
[DOI][WoS][Pmid][serval:BIB_5EDA606EF324]
Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.
Nof E., Belhassen B., Arad M., Bhuiyan Z.A., Antzelevitch C., Rosso R., Fogelman R., Luria D., El-Ani D., Mannens M.M. et al., 2011. Heart Rhythm, 8 (10) pp. 1546-1552.
[URN][DOI][WoS][Pmid][serval:BIB_70976D4657E4]
 
Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC).
IPDTOC Working Group, Addor Marie-Claude, Devolz Monique, 2011. Cleft Palate-Craniofacial Journal, 48 (1) pp. 66-81.
[DOI][WoS][Pmid][serval:BIB_1A8568B3B7B0]
 
Propoxyphene-induced torsades de pointes.
Adler A., Viskin S., Bhuiyan Z.A., Eisenberg E., Rosso R., 2011. Heart Rhythm, 8 (12) pp. 1952-1954.
[DOI][WoS][Pmid][serval:BIB_BD908A74BCEB]
 
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim O.H., Park H., Seong M.W., Cho T.J., Nishimura G., Superti-Furga A., Unger S., Ikegawa S., Choi I.H., Song H.R. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2669-2680.
[DOI][WoS][Pmid][serval:BIB_F1A003D5A500]
 
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.
Boyd P.A., Loane M., Garne E., Khoshnood B., Dolk H., EUROCAT Working Group, 2011. European Journal of Human Genetics, 19 (2) pp. 231-234.
[DOI][WoS][Pmid][serval:BIB_39B7212CF37A]
Successful heart and liver transplantation in a Swiss patient with Glu89Lys transthyretin amyloidosis.
Niederhauser J., Lobrinus J.A., Ochsner F., Wider C., Fellmann F., Yerly P., Antonino A.T., Saraiva M.J., Moradpour D., Kuntzer T., 2011. Transplantation, 91 (6) pp. e40-e42. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_25BCD0F546D3]
 
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population.
Crijns H.J., Jentink J., Garne E., Gispen-de Wied C.C., Straus S.M., de Jong-van den Berg L.T., EUROCAT Working Group, 2011. Journal of Rheumatology, 38 (9) pp. 1871-1874.
[DOI][WoS][Pmid][serval:BIB_17B42371DDDF]
 
The phenotype of recurrent 10q22q23 deletions and duplications.
van Bon B.W., Balciuniene J., Fruhman G., Nagamani S.C., Broome D.L., Cameron E., Martinet D., Roulet E., Jacquemont S., Beckmann J.S. et al., 2011. European Journal of Human Genetics, 19 (4) pp. 400-408.
[DOI][WoS][Pmid][serval:BIB_3D6033553CEB]
 
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B., Lindenbaum P., Pichon O., Bézieau S., Dina C., Jacquemont S., Martin-Coignard D., Thauvin-Robinet C., Le Merrer M., Mandel J.L. et al., 2011. Nature Genetics, 43 (4) pp. 306-308.
[DOI][WoS][Pmid][serval:BIB_5325CAB11B13]
Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome.
Hwang C.S., Sukalo M., Batygin O., Addor M.C., Brunner H., Aytes A.P., Mayerle J., Song H.K., Varshavsky A., Zenker M., 2011. Plos One, 6 (9) pp. e24925.
[URN][DOI][WoS][Pmid][serval:BIB_D5F79DFB41CC]
 
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers L.E., Fano V., Martinelli D., Campos-Xavier B., Barbuti D., Cho T.J., Dursun A., Kim O.H., Lee S.H., Timpani G. et al., 2011. American Journal of Medical Genetics. Part A, 155A (11) pp. 2609-2616.
[DOI][WoS][Pmid][serval:BIB_9083E4FDD020]
2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes E.K., Willer C.J., Berndt S.I., Monda K.L., Thorleifsson G., Jackson A.U., Lango Allen H., Lindgren C.M., Luan J., Mägi R. et al., 2010/11. Nature genetics, 42 (11) pp. 937-948. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EECD3DE17F7A]
 
Mort subite cardiaque dans la famille : quel bilan chez les proches ?
Fellmann F., Michaud K., 2010/11. réalités Cardiologiques, 271 (1) pp. 1-4.
[URN][serval:BIB_9484E6A056BB]
 
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
Ikram M.K., Sim X., Xueling S., Jensen R.A., Cotch M.F., Hewitt A.W., Ikram M.A., Wang J.J., Klein R., Klein B.E. et al., 2010/10. Plos Genetics, 6 (10) pp. e1001184.
[DOI][WoS][Pmid][serval:BIB_E7F8CE13378B]
 
Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.
Torri F., Akelai A., Lupoli S., Sironi M., Amann-Zalcenstein D., Fumagalli M., Dal Fiume C., Ben-Asher E., Kanyas K., Cagliani R. et al., 2010/08. FASEB journal, 24 (8) pp. 3066-3082. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BBFEE310C2C7]
 
Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.
Bellavia M., Von Der Weid N., Peddes C., Jacquemont S., Liebaers I., Hohlfeld P., Wunder-Galié D., de Ziegler D., 2010/08. Fertility and sterility, 94 (3) pp. 1129-1131. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B2127EC736E9]
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
Kapur K., Johnson T., Beckmann N.D., Sehmi J., Tanaka T., Kutalik Z., Styrkarsdottir U., Zhang W., Marek D., Gudbjartsson D.F. et al., 2010/07/22. PLoS genetics, 6 (7) pp. e1001035. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A16A030D2C1D]
 
Role of the c-Jun N-terminal kinase pathway in retinal excitotoxicity, and neuroprotection by its inhibition.
Bessero A.C., Chiodini F., Rungger-Brändle E., Bonny C., Clarke P.G., 2010/06. Journal of neurochemistry, 113 (5) pp. 1307-1318. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AE90EA937D2B]
 
c-Jun N-terminal kinase signaling pathway in excitotoxic cell death following kainic acid-induced status epilepticus.
Spigolon G., Veronesi C., Bonny C., Vercelli A., 2010/04. The European journal of neuroscience, 31 (7) pp. 1261-1272. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AB4AFAF92E95]
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters R.G., Jacquemont S., Valsesia A., de Smith A.J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S. et al., 2010/02/04. Nature, 463 (7281) pp. 671-675. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_779A2B29ACBA]
 
[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
de Prada Merino A., Bütschi F.N., Bouchardy I., Beckmann J.S., Morris M.A., Hafen G.M., Fellmann F., 2010. Journal of Cystic Fibrosis, 9 (6) pp. 447-449.
[DOI][WoS][Pmid][serval:BIB_2588B381B5B6]
 
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Sarfati Julie, Guiochon-Mantel Anne, Rondard Philippe, Arnulf Isabelle, Garcia-Pinero Alfons, Wolczynski Slawomir), Brailly-Tabard Sylvie, Bidet Maud, Ramos-Arroyo Maria, Mathieu Michele et al., 2010. Journal of Clinical Endocrinology and Metabolism, 95 (2) pp. 659-669.
[DOI][WoS][Pmid][serval:BIB_D6B7F69B2004]
 
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A., Galli L., Faivre L., Clayton-Smith J., Azzarello-Burri S.M., Hertz J.M., Jacquemont S., Taurisano R., Arroyo Carrera I., Tarantino E. et al., 2010. American Journal of Medical Genetics, 152 A (2) pp. 313-318.
[DOI][WoS][Pmid][serval:BIB_D4872E610ACE]
 
Case-control analysis of paternal age and trisomic anomalies.
De Souza E., Morris J.K., EUROCAT Working Group, 2010. Archives of Disease In Childhood, 95 (11) pp. 893-897.
[DOI][WoS][Pmid][serval:BIB_DD71010051CA]
 
Cloudy corneas at birth: a case of bilateral Peters anomaly
Rezbach P., Kaiser P., Tschuor P., Addor M.C., Schorderet D., Cachat F., Munier F., 2010. pp. 16S dans Joint Annual Meeting of the Swiss Society for Pediatrics and the Swiss Society of Pediatric Pneumology, Swiss Medical Weekly.
[WoS][serval:BIB_F3A7BF165F23]
 
Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project.
Tabara Y., Kohara K., Kita Y., Hirawa N., Katsuya T., Ohkubo T., Hiura Y., Tajima A., Morisaki T., Miyata T. et al., 2010. Hypertension, 56 (5) pp. 973-980. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_95F8890DDD43]
Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions.
Garne E., Loane M., Addor M.C., Boyd P.A., Barisic I., Dolk H., 2010. European Journal of Paediatric Neurology, 14 (2) pp. 150-155.
[URN][DOI][WoS][Pmid][serval:BIB_3518D3096666]
 
Early white matter alterations in men predisposed to FXTAS revealed by MT imaging.
Fornari E., Battistella G., Maeder P., Niederhauser J., Gronchi A., Isidor N., Vingerhoets F., Jacquemont S., 2010. dans OHBM 2010, 16th Annual Meeting of the Organization for Human Brain Mapping.
[serval:BIB_2F715F287414]
 
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Krahn M., Goicoechea M., Hanisch F., Groen E., Bartoli M., Pécheux C., Garcia-Bragado F., Leturcq F., Jeannet P.Y., Lobrinus J.A. et al., 2010. Clinical Genetics, 80 (4) pp. 398-402.
[DOI][WoS][Pmid][serval:BIB_643E05B90510]
 
EUROCAT website data on prenatal detection rates of congenital anomalies.
Garne E., Dolk H., Loane M., Boyd P.A., EUROCAT , 2010. Journal of Medical Screening, 17 (2) pp. 97-98.
[DOI][WoS][Pmid][serval:BIB_57E99DA12798]
 
Genetic loci influencing kidney function and chronic kidney disease.
Chambers J.C., Zhang W., Lord G.M., van der Harst P., Lawlor D.A., Sehmi J.S., Gale D.P., Wass M.N., Ahmadi K.R., Bakker S.J. et al., 2010. Nature Genetics, 42 (5) pp. 373-375. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_55509FC8B9C3]
 
Genetic male infertility and mutation of CATSPER ion channels.
Hildebrand M.S., Avenarius M.R., Fellous M., Zhang Y., Meyer N.C., Auer J., Serres C., Kahrizi K., Najmabadi H., Beckmann J.S. et al., 2010. European Journal of Human Genetics, 18 (11) pp. 1178-1184.
[DOI][WoS][Pmid][serval:BIB_3993406DE3FD]
 
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study.
Rauch A., Kutalik Z., Descombes P., Cai T., Di Iulio J., Mueller T., Bochud M., Battegay M., Bernasconi E., Borovicka J. et al., 2010. Gastroenterology, 138 (4) pp. 1338-45, 1345.e1-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0243EEF97C35]
 
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
Hor H., Kutalik Z., Dauvilliers Y., Valsesia A., Lammers G.J., Donjacour C.E., Iranzo A., Santamaria J., Peraita Adrados R., Vicario J.L. et al., 2010. Nature Genetics, 42 (9) pp. 786-789.
[DOI][WoS][Pmid][serval:BIB_CFB40FFC4F99]
Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice.
de Preux Charles A.S., Verdier V., Zenker J., Peter B., Médard J.J., Kuntzer T., Beckmann J.S., Bergmann S., Chrast R., 2010. Plos One, 5 (5) pp. e10832. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_91FD99554B4D]
Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study.
Jentink J., Dolk H., Loane M.A., Morris J.K., Wellesley D., Garne E., de Jong-van den Berg L., EUROCAT Antiepileptic Study Working Group, 2010. Bmj, 341 pp. c6581.
[URN][WoS][Pmid][serval:BIB_58A21DAFC31A]
 
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter L., Ghassibe M., Revencu N., Boute O., Lees M., François G., Verellen-Dumoulin C., Sznajer Y., Moncla A., Benateau H. et al., 2010. Molecular Syndromology, 1 (2) pp. 67-74.
[DOI][Pmid][serval:BIB_18E636136709]
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.
Desmaison A., Vigouroux A., Rieubland C., Peres C., Calvas P., Chassaing N., 2010. Molecular Vision, 16 pp. 2847-2849.
[URN][WoS][Pmid][serval:BIB_B91F2881ACD6]
 
Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state.
Hall D., Poussin C., Velagapudi V.R., Empsen C., Joffraud M., Beckmann J.S., Geerts A.E., Ravussin Y., Ibberson M., Oresic M. et al., 2010. Journal of Biological Chemistry, 285 (40) pp. 31011-31023.
[DOI][WoS][Pmid][serval:BIB_5C7339688FC7]
 
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
Rieubland C., Jacquemont S., Mittaz L., Osterheld M.C., Vial Y., Superti-Furga A., Unger S., Bonafé L., 2010. European Journal of Medical Genetics, 53 (5) pp. 294-298. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E21E9F6AF726]
 
Polykystose hépatorénale: développements récents [Recent insights into polycystic kidney disease]
Bonny O., Chehade H., Fellmann F., Qanadli S.D., Barbey F., 2010. Revue Médicale Suisse, 6 (238) pp. 454-459.
[Pmid][serval:BIB_7B0292F2511B]
 
Prevalence of Neural Tube Defects (NTD) in Younger Mothers in Europe 2000-2008: Analysis of the EUROCAT Database - Report to Bayer Schiering Pharma
Loane M., Dolk H., Eurocat Working Group, University of Ulster, 2010., EUROCAT Central Registry, University of Ulster.
[serval:BIB_ADAE4C6B3BF3]
 
Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]
Ferrarini A., Jacquemont S., Popovic M.B., Bonafé L., Martinet D., 2010. Revue Médicale Suisse, 6 (237) pp. 390-396.
[Pmid][serval:BIB_33A9D18655C1]
 
SCN5A mutations in atrial fibrillation.
Amin Ahamad S., Bhuiyan Zahurul A., 2010. Heart Rhythm, 7 (12) pp. 1870-1871.
[DOI][WoS][Pmid][serval:BIB_B26358A8AE95]
 
Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases.
Elger B.S., Michaud K., Fellmann F., Mangin P., 2010. Clinical Genetics, 77 (3) pp. 287-292.
[DOI][WoS][Pmid][serval:BIB_565C1AAF07CF]
 
Termination of pregnancy for fetal anomaly after 23 weeks of gestation: a European register-based study.
Garne E., Khoshnood B., Loane M., Boyd P., Dolk H., EUROCAT Working Group, 2010. BJOG, 117 (6) pp. 660-666.
[DOI][WoS][Pmid][serval:BIB_371E9A921C90]
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Elks C.E., Perry J.R., Sulem P., Chasman D.I., Franceschini N., He C., Lunetta K.L., Visser J.A., Byrne E.M., Cousminer D.L. et al., 2010. Nature Genetics, 42 (12) pp. 1077-1085. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1764CFBA5790]
 
Valproic acid monotherapy in pregnancy and major congenital malformations.
Jentink J., Loane M.A., Dolk H., Barisic I., Garne E., Morris J.K., de Jong-van den Berg L.T., EUROCAT Antiepileptic Study Working Group, 2010. New England Journal of Medicine, 362 (23) pp. 2185-2193.
[DOI][WoS][Pmid][serval:BIB_ECE63ADE6FE5]
2009
Common genetic variation and the control of HIV-1 in humans.
Fellay J., Ge D., Shianna K.V., Colombo S., Ledergerber B., Cirulli E.T., Urban T.J., Zhang K., Gumbs C.E., Smith J.P. et al., 2009/12. PLoS genetics, 5 (12) pp. e1000791. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_86D58F4F4348]
Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains.
Berthonneche C., Peter B., Schüpfer F., Hayoz P., Kutalik Z., Abriel H., Pedrazzini T., Beckmann J.S., Bergmann S., Maurer F., 2009/08/12. PloS one, 4 (8) pp. e6610. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A6F224D4DEB1]
 
A New Large Deletion in the DFNB1 Locus Causes Nonsyndromic Hearing Loss.
Feldmann D., Le Maréchal C., Jonard L., Thierry P., Czajka C., Couderc R., Ferec C., Denoyelle F., Marlin S., Fellmann F., 2009. European Journal of Medical Genetics, 52 (4) pp. 195-200.
[DOI][WoS][Pmid][serval:BIB_3366BBBA01A5]
 
Association between C-reactive protein and adiposity in women.
Bochud M., Marquant F., Marques-Vidal P.M., Vollenweider P., Beckmann J.S., Mooser V., Paccaud F., Rousson V., 2009. Journal of Clinical Endocrinology and Metabolism, 94 (10) pp. 3969-3977. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A69EB62E1EDA]
 
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E., Johnston J., Whalen S., Okamoto N., Hatsukawa Y., Nishio J., Kohara H., Hirano Y., Mizuno S., Torii C. et al., 2009. European Journal of Human Genetics, 17 (10) pp. 1325-1335.
[DOI][WoS][Pmid][serval:BIB_B340835744A9]
 
Bilateral carotid thrombus formation after strenuous coughing.
Siclari F., Hirt L., Meuli R., Fellmann F., Gailloud P., Michel P., 2009. European Journal of Neurology, 16 (7) pp. e122-e123.
[DOI][WoS][Pmid][serval:BIB_3EC3B25F443B]
 
Congenital anomalies diagnosed after age 1 yeat and their impact on prevalence : short EUROCAT report
EUROCAT Working Group, 2009., EUROCAT Central Registry, University of Ulster.
[serval:BIB_6EA8FE241D71]
 
Congenital heart defects in Europe : 2000-2005 : special report
EUROCAT Central Registry, University of Ulster, 2009. 31 p., EUROCAT Central Registry, University of Ulster.
[serval:BIB_B2C09BEE6F7B]
 
Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe.
Garne E., Loane M., Wellesley D., Barisic I., Eurocat Working Group, 2009. Journal of Pediatric Urology, 5 (1) pp. 47-52.
[DOI][WoS][Pmid][serval:BIB_E76CC8E4831D]
Evidence of a causal association between C-reactive protein and adiposity in women
Bochud Murielle, Marquant F., Marques-Vidal Pedro Manuel, Vollenweider Peter, Beckmann Jacques S., Mooser Vincent, Paccaud Fred, Rousson Valentin, 2009. pp. GEN-6, p. 37 dans Genes and Diseases, CHUV Research Day, January 29, 2009, Université de Lausanne, Faculté de biologie et de médecine.
[URN][serval:BIB_76A46086B1DF]
 
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?
Ferrarini A., Osterheld M.C., Vial Y., de Viragh P.A., Cotting J., Martinet D., Beckmann J.S., Fellmann F., 2009. American journal of medical genetics. Part A, 149A (12) pp. 2661-5.
[DOI][WoS][Pmid][serval:BIB_D9BA43D9C73A]
 
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N., Rooms L., Vandeweyer G., van den Ende J., Reyniers E., Fichera M., Romano C., Delle Chiaie B., Mortier G., Menten B. et al., 2009. European Journal of Medical Genetics, 52 (2-3) pp. 94-100.
[DOI][WoS][Pmid][serval:BIB_5322455C9A14]
Genome-wide association study identifies eight loci associated with blood pressure.
Newton-Cheh C., Johnson T., Gateva V., Tobin M.D., Bochud M., Coin L., Najjar S.S., Zhao J.H., Heath S.C., Eyheramendy S. et al., 2009. Nature Genetics, 41 (6) pp. 666-676. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BF347FE89719]
JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis.
Abdelli S., Puyal J., Bielmann C., Buchillier V., Abderrahmani A., Clarke P.G.H., Beckmann J.S., Bonny C., 2009. Diabetologia, 52 (9) pp. 1871-1880. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3B33E102FE6E]
 
La surveillance active dans la prise en charge du cancer de la prostate précoce. [Active surveillance for early-stage prostate cancer]
Jichlinski P., Berthold D. R., Zouhair A., Griesser A. C., Meuwly J. Y., Prior J. O., Lhermitte B., Doerfler A., Treuthardt C., Praz V. et al., 2009. Revue médicale suisse, 5 (228) pp. 2442-4, 2446-7.
[Pmid][serval:BIB_66220A2D6BE9]
 
Limb-girdle Muscular Dystrophy Type 2A Can Result from Accelerated Autoproteolytic Inactivation of Calpain 3.
Garnham C., Hanna R., Chou J., Low K., Gourlay K., Campbell R., Beckmann J., Davies P., 2009. Biochemistry, 48 (15) pp. 3457-3467. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_227C192595BC]
 
Maternal age-specific risk of non-chromosomal anomalies.
Loane M., Dolk H., Morris J.K., EUROCAT Working Group, 2009. Bjog, 116 (8) pp. 1111-1119.
[DOI][WoS][Pmid][serval:BIB_CD9E3CB14545]
Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.
Michaud K., Fellmann F., Abriel H., Beckmann J.S., Mangin P., Elger B.S., 2009. Swiss Medical Weekly, 139 (49-50) pp. 712-8.
[URN][WoS][Pmid][serval:BIB_D9D298C07B1F]
 
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
Sévin M., Kutalik Z., Bergman S., Vercelletto M., Renou P., Lamy E., Vingerhoets F.J., Di Virgilio G., Boisseau P., Bezieau S. et al., 2009. Journal of Medical Genetics, 46 (12) pp. 818-824.
[DOI][WoS][Pmid][serval:BIB_220688782453]
 
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I., Colman D., Arnold E., Baumgartner D., Bottani A., Fokstuen S., Addor M.C., Berger W., Carrel T., Steinmann B. et al., 2009. Human Mutation, 30 (9) pp. 1355-1364.
[DOI][WoS][Pmid][serval:BIB_4ECB5518460B]
Sharing data between LSDBs and central repositories.
den Dunnen J.T., Sijmons R.H., Andersen P.S., Vihinen M., Beckmann J.S., Rossetti S., Talbot C.C., Hardison R.C., Povey S., Cotton R.G., 2009. Human Mutation, 30 (4) pp. 493-495. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E82D3F45825B]
 
The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome.
Wirojanan J., Jacquemont S., Diaz R., Bacalman S., Anders T.F., Hagerman R.J., Goodlin-Jones B.L., 2009. Journal of Clinical Sleep Medicine, 5 (2) pp. 145-150.
[WoS][Pmid][serval:BIB_1174232CCC93]
 
Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing.
Esnault G., Majocchi S., Martinet D., Besuchet-Schmutz N., Beckmann J.S., Mermod N., 2009. Molecular and Cellular Biology, 29 (9) pp. 2409-2418. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8EBBCF62537B]
2008
 
c-Jun N-terminal kinase binding domain-dependent phosphorylation of mitogen-activated protein kinase kinase 4 and mitogen-activated protein kinase kinase 7 and balancing cross-talk between c-Jun N-terminal kinase and extracellular signal-regulated kinase pathways in cortical neurons
Repici M., Mare L., Colombo A., Ploia C., Sclip A., Bonny C., Nicod P., Salmona M., Borsello T., 2008/12. Neuroscience, 159 (1) pp. 94-103. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9A9224B391E7]
 
Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection.
Chenuet S., Martinet D., Besuchet-Schmutz N., Wicht M., Jaccard N., Bon A.C., Derouazi M., Hacker D.L., Beckmann J.S., Wurm F.M., 2008/12/01. Biotechnology and bioengineering, 101 (5) pp. 937-945. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3C9C19B9A5F]
 
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Martinet D., Filges I., Besuchet Schmutz N., Morris M.A., Gaide A.C., Dahoun S., Bottani A., Addor M.C., Antonarakis S.E., Beckmann J.S. et al., 2008/08/15. American journal of medical genetics. Part A, 146A (16) pp. 2094-2102. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E4EF4792E0A8]
 
Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia.
Blandin A.T., Mühlematter D., Bougeon S., Gogniat C., Porter S., Beyer V., Parlier V., Beckmann J.S., van Melle G., Jotterand M., 2008. Cancer Genetics and Cytogenetics, 186 (2) pp. 69-77. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_460F0BBC6FF6]
 
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
Isidor B., Cormier-Daire V., Le Merrer M., Lefrancois T., Hamel A., Le Caignec C., David A., Jacquemont S., 2008. American journal of medical genetics. Part A, 146A (12) pp. 1593-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DD901C475945]
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