Genetic Medicine

Publications | Phd and Masters theses

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894 publications

... | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | ...
2008
 
CNVs and genetic medicine (excitement and consequences of a rediscovery).
Beckmann J.S., Sharp A.J., Antonarakis S.E., 2008. Cytogenetic and Genome Research, 123 (1-4) pp. 7-16.
[DOI][WoS][Pmid][serval:BIB_5A57B966BF00]
 
D-JNKi, a peptide inhibitor of c-Jun N-terminal kinase, promotes functional recovery after transient focal cerebral ischemia in rats
Esneault E., Castagne V., Moser P., Bonny C., Bernalidin M., 2008. Neuroscience, 152 (2) pp. 308-320. Peer-reviewed.
[DOI][WoS][serval:BIB_23D2EF512A57]
 
Descriptive epidemiology of Cornelia de Lange syndrome in Europe.
Barisic I., Tokic V., Loane M., Bianchi F., Calzolari E., Garne E., Wellesley D., Dolk H., EUROCAT Working Group, 2008. American Journal of Medical Genetics. Part A, 146A (1) pp. 51-59.
[DOI][WoS][Pmid][serval:BIB_974375CB2C8C]
 
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations?
Dolk H., Jentink J., Loane M., Morris J., de Jong-van den Berg L.T., EUROCAT Antiepileptic Drug Working Group, 2008. Neurology, 71 (10) pp. 714-722.
[DOI][WoS][Pmid][serval:BIB_2FDDD905C5CC]
 
Escarres et dénutrition: dépistage et évaluation de l'état nutritionnel [Pressure ulcers and undernutrition: screening and assessment of nutritional status]
Tran C., Roulet M., Guex E., Coti Bertrand P., 2008. Praxis, 97 (5) pp. 261-264.
[Pmid][serval:BIB_990AD6FCA035]
 
G-CSF-induced remission in two cases of acute myeloid leukemia.
Benz R., Goede J.S., Parlier V., Mühlematter D., Jotterand M., Fehr J., 2008. Leukemia Research, 32 (7) pp. 1148-1152. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F893A9016004]
Genome-wide association analysis identifies 20 loci that influence adult height.
Weedon M.N., Lango H., Lindgren C.M., Wallace C., Evans D.M., Mangino M., Freathy R.M., Perry J.R., Stevens S., Hall A.S. et al., 2008. Nature Genetics, 40 (5) pp. 575-83. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_29A149E61622]
 
Glucose and leptin induce apoptosis in human beta-cells and impair glucose-stimulated insulin secretion through activation of c-Jun N-terminal kinases.
Maedler K., Schulthess F.T., Bielman C., Berney T., Bonny C., Prentki M., Donath M.Y., Roduit R., 2008. FASEB Journal, 22 (6) pp. 1905-1913. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2D2F8F842C76]
 
L'autopsie moléculaire de la mort subite cardiaque: de la salle d'autopsie au cabinet du praticien [Molecular autopsy of sudden cardiac death: from post-mortem to clinical approach]
Michaud K., Lesta Mdel M, Fellmann F., Mangin P., 2008. Revue Médicale Suisse, 4 (164) pp. 1590-3.
[Pmid][serval:BIB_46C97054E5D8]
LDL-cholesterol concentrations: a genome-wide association study.
Sandhu M.S., Waterworth D.M., Debenham S.L., Wheeler E., Papadakis K., Zhao J.H., Song K., Yuan X., Johnson T., Ashford S. et al., 2008. Lancet, 371 (9611) pp. 483-491. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B71C09953414]
 
Le conseil génétique: aspects théoriques et pratique en prénatal [Genetic counselling: theoretical aspects and prenatal practice]
Cina V., 2008. Revue Médicale Suisse, 4 (152) pp. 931-934.
[Pmid][serval:BIB_27A78210EFE3]
Modulation of the c-Jun N-terminal kinase activity in the embryonic heart in response to anoxia-reoxygenation: involvement of the Ca2+ and mitoKATP channels.
Sarre A., Gardier S., Maurer F., Bonny C., Raddatz E., 2008. Molecular and Cellular Biochemistry, 313 (1-2) pp. 133-138.
[URN][DOI][WoS][Pmid][serval:BIB_AE4324FF1432]
 
Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.
Breems D.A., Van Putten W.L., De Greef G.E., Van Zelderen-Bhola S.L., Gerssen-Schoorl K.B., Mellink C.H., Nieuwint A., Jotterand M., Hagemeijer A., Beverloo H.B. et al., 2008. Journal of Clinical Oncology, 26 (29) pp. 4791-4797.
[DOI][WoS][Pmid][serval:BIB_9D3A7D70C3CB]
Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice.
Bustamante M., Tasinato A., Maurer F., Elkochairi I., Lepore M.G., Arsenijevic Y., Pedrazzini T., Munier F.L., Schorderet D.F., 2008. Molecular Vision, 14 pp. 1129-1137. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_7F64DFC7EE27]
 
Peculiar findings in intermediate type of adenylosuccinate lyase deficiency
Ballhausen D., Lazzarino G., Tavazzi B., Jequier M., Roulet-Perez E., Jacquemont S., Roux C., Bonafe L., 2008. pp. S159 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
[DOI][WoS][serval:BIB_8F15020E7497]
 
Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect.
Roth P., Martin A., Bawab F., Fellmann F., Aubert D., Maillet R., 2008. Fetal Diagnosis and Therapy, 23 (2) pp. 117-120.
[DOI][WoS][Pmid][serval:BIB_D9BFBFEA1B8B]
Recommendations for locus-specific databases and their curation.
Cotton R.G., Auerbach A.D., Beckmann J.S., Blumenfeld O.O., Brookes A.J., Brown A.F., Carrera P., Cox D.W., Gottlieb B., Greenblatt M.S. et al., 2008. Human Mutation, 29 (1) pp. 2-5. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_380D9F5704BD]
 
Segregation study in family with severe variant of the A3302G mutation in the mitochondrial tRNA LEU (UUR)
Ballhausen D., Guerry F., Hahn D., Bonafe L., Jacquemont S., 2008. pp. S55 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
[DOI][WoS][serval:BIB_94A558B3E354]
 
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. American Journal of Medical Genetics: Part A, 146A (16) pp. 2094-2102. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E4EF4792E0A8]
Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.
Boyd P.A., Devigan C., Khoshnood B., Loane M., Garne E., Dolk H., EUROCAT Working Group, 2008. Bjog : An International Journal of Obstetrics and Gynaecology, 115 (6) pp. 689-696. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EA184AFB1061]
 
Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3.
Tzankov A., Sotlar K., Muhlematter D., Theocharides A., Went P., Jotterand M., Horny H.P., Dirnhofer S., 2008. Journal of Clinical Pathology, 61 (8) pp. 958-961.
[DOI][WoS][Pmid][serval:BIB_A18CAC642276]
 
The JNK inhibitor XG-102 protects from ischemic damage with delayed intravenous administration also in the presence of recombinant tissue plasminogen activator.
Wiegler K., Bonny C., Coquoz D., Hirt L., 2008. Cerebrovascular Diseases (basel, Switzerland), 26 (4) pp. 360-366. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ECDCF3346035]
 
The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia.
Chapiro E., Radford-Weiss I., Bastard C., Luquet I., Lefebvre C., Callet-Bauchu E., Leroux D., Talmant P., Mozziconacci M.J., Mugneret F. et al., 2008. Leukemia, 22 (11) pp. 2123-2127. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C351A801D5AA]
2007
 
Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells.
Girod P.A., Nguyen D.Q., Calabrese D., Puttini S., Grandjean M., Martinet D., Regamey A., Saugy D., Beckmann J.S., Bucher P. et al., 2007/09. Nature Methods, 4 (9) pp. 747-753.
[DOI][WoS][Pmid][serval:BIB_FBEEC01204C1]
The c-Jun N-terminal kinase JNK participates in cytokine- and isolation stress-induced rat pancreatic islet apoptosis
Abdelli S., Abderrahmani A., Hering B. J., Beckmann J. S., Bonny C., 2007/08. Diabetologia, 50 (8) pp. 1660-9.
[URN][DOI][WoS][Pmid][serval:BIB_63B6FB252C69]
 
A peptide inhibitor of c-Jun NH2-terminal kinase reduces myocardial ischemia-reperfusion injury and infarct size in vivo.
Milano G., Morel S., Bonny C., Samaja M., von Segesser L.K., Nicod P., Vassalli G., 2007/04. American Journal of Physiology. Heart and Circulatory Physiology, 292 (4) pp. H1828-1835. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AA1DD787C53B]
 
Blocking c-Jun-N-terminal kinase signaling can prevent hearing loss induced by both electrode insertion trauma and neomycin ototoxicity.
Eshraghi A.A., Wang J., Adil E., He J., Zine A., Bublik M., Bonny C., Puel J.L., Balkany T.J., Van De Water T.R., 2007/04. Hearing Research, 226 (1-2) pp. 168-177. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ACFD75A7A8E8]
 
Inhibition of the c-Jun N-terminal kinase-mediated mitochondrial cell death pathway restores auditory function in sound-exposed animals
Wang J., Ruel J., Ladrech S., Bonny C., van de Water T. R., Puel J. L., 2007/03. Molecular Pharmacology, 71 (3) pp. 654-66.
[DOI][WoS][Pmid][serval:BIB_5CB9D0177083]
 
Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries.
Calzolari E., Pierini A., Astolfi G., Bianchi F., Neville A.J., Rivieri F., EUROCAT Working Group, 2007. American Journal of Medical Genetics. Part A, 143 (6) pp. 528-37. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FFC0B2C67ADA]
 
Blocking Apoptotic Intracellular Signaling Cascades with Cell-Permeable Peptides
Zine A., Uziel A., Beckmann J., Bonny C., 2007. Current signal transduction therapy, 2 (2) pp. 175-179.
[DOI][WoS][serval:BIB_08846E295E69]
 
Case study of intracerebral plasmacytoma as an initial presentation of multiple myeloma.
Wavre A., Baur A.S., Betz M., Mühlematter D., Jotterand M., Zaman K., Ketterer N., 2007. Neuro-oncology, 9 (3) pp. 370-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_78BEEE06B310]
 
Cell-permeable peptides induce dose- and length-dependent cytotoxic effects.
Cardozo A.K., Buchillier V., Mathieu M., Chen J., Ortis F., Ladrière L., Allaman-Pillet N., Poirot O., Kellenberger S., Beckmann J.S. et al., 2007. Biochimica et Biophysica Acta-Bioenergetics, 1768 (9) pp. 2222-2234. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ECF3905AB63E]
 
Early onset severe myopathy due to the A3302G mutation in the mitochondrial tRNA LEU(UUR).
Hahn D., Schaller A., Gallati S., Ballhausen D., Jacquemont S., Jeannet P.Y., Bonafé L., Nuoffer J.M., 2007. p. 72 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
[WoS][serval:BIB_FA71A3AF0784]
 
Gastrointestinal malformations: impact of prenatal diagnosis on gestational age at birth.
Garne E., Loane M., Dolk H., EUROCAT Working Group, 2007. Paediatric and Perinatal Epidemiology, 21 (4) pp. 370-375. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5FAD3B7BABF7]
 
Increasing prevalence of gastroschisis in Europe 1980-2002: a phenomenon restricted to younger mothers?
Loane M., Dolk H., Bradbury I., EUROCAT Working Group, 2007. Paediatric and Perinatal Epidemiology, 21 (4) pp. 363-369. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_78D79C3C5C88]
 
Novel strategy for treatment of viral central nervous system infection by using a cell-permeating inhibitor of c-Jun N-terminal kinase.
Beckham J.D., Goody R.J., Clarke P., Bonny C., Tyler K.L., 2007. Journal of Virology, 81 (13) pp. 6984-6992.
[DOI][WoS][Pmid][serval:BIB_1CD53DB6454F]
 
Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
Pitchon E.M., Cachat F., Jacquemont S., Hinard C., Borruat F.X., Schorderet D.F., Morris M.A., Munier F.L., 2007. Klinische Monatsblätter für Augenheilkunde, 224 (4) pp. 340-343. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E34C546BB0BD]
 
Role of the JNK pathway in NMDA-mediated excitotoxicity of cortical neurons.
Centeno C., Repici M., Chatton J.Y., Riederer B.M., Bonny C., Nicod P., Price M., Clarke P.G., Papa S., Franzoso G. et al., 2007. Cell Death and Differentiation, 14 (2) pp. 240-253. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_22C08349A3CE]
 
Should Europe fortify a staple food with folic acid?
Abramsky L., Dolk H., EUROCAT Folic Acid Working Group, 2007. Lancet, 369 (9562) pp. 641-642.
[DOI][WoS][Pmid][serval:BIB_D8F7C6168658]
 
Survival and health in liveborn infants with transposition of great arteries--a population-based study.
Garne E., Loane M.A., Nelen V., Bakker M.K., Gener B., Abramsky L., Addor M.C., Queisser-Luft A., 2007. Congenital Heart Disease, 2 (3) pp. 165-169.
[DOI][Pmid][serval:BIB_98A7CEE21DDB]
 
Time-course of c-Jun N-terminal kinase activation after cerebral ischemia and effect of D-JNKI1 on c-Jun and caspase-3 activation.
Repici M., Centeno C., Tomasi S., Forloni G., Bonny C., Vercelli A., Borsello T., 2007. Neuroscience, 150 (1) pp. 40-49. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EA516AA27EEB]
 
Uncombable hair syndrome: a clinical report.
Rieubland C., de Viragh P.A., Addor M.C., 2007. European Journal of Medical Genetics, 50 (4) pp. 309-314. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0B8426EACAFA]
2006
 
Homogeneous and nonradioactive high-throughput screening platform for the characterization of kinase inhibitors in cell lysates
Guenat S., Rouleau N., Bielmann C., Bedard J., Maurer F., Allaman-Pillet N., Nicod P., Bielefeld-Sevigny M., Beckmann J. S., Bonny C. et al., 2006/12. Journal of Biomolecular Screening, 11 (8) pp. 1015-26. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_95855612ABCB]
Brief reoxygenation episodes during chronic hypoxia enhance posthypoxic recovery of LV function: role of mitogen-activated protein kinase signaling pathways
Morel S., Milano G., Ludunge K. M., Corno A. F., Samaja M., Fleury S., Bonny C., Kappenberger L., von Segesser L. K., Vassalli G., 2006/07. Basic Research in Cardiology, 101 (4) pp. 336-45.
[URN][DOI][WoS][Pmid][serval:BIB_E790C817037F]
 
D-JNKI-1 treatment prevents the progression of hearing loss in a model of cochlear implantation trauma
Eshraghi A. A., He J., Mou C. H., Polak M., Zine A., Bonny C., Balkany T. J., Van De Water T. R., 2006/06. Otology and Neurotology, 27 (4) pp. 504-11.
[DOI][WoS][Pmid][serval:BIB_E5354437574D]
 
Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia
Score J., Curtis C., Waghorn K., Stalder M., Jotterand M., Grand F. H., Cross N. C., 2006/05. Leukemia, 20 (5) pp. 827-32.
[DOI][WoS][Pmid][serval:BIB_0A89470D448A]
 
Molecular cytogenetic characterization of doxorubicin-resistant neuroblastoma cell lines: evidence that acquired multidrug resistance results from a unique large amplification of the 7q21 region
Flahaut M., Muhlethaler-Mottet A., Martinet D., Fattet S., Bourloud K. B., Auderset K., Meier R., Schmutz N. B., Delattre O., Joseph J. M. et al., 2006/05. Genes, Chromosomes and Cancer, 45 (5) pp. 495-508.
[DOI][WoS][Pmid][serval:BIB_D316B09D4233]
 
A peptide c-Jun N-terminal kinase (JNK) inhibitor blocks mechanical allodynia after spinal nerve ligation: respective roles of JNK activation in primary sensory neurons and spinal astrocytes for neuropathic pain development and maintenance
Zhuang Z. Y., Wen Y. R., Zhang D. R., Borsello T., Bonny C., Strichartz G. R., Decosterd I., Ji R. R., 2006/03. Journal of Neuroscience, 26 (13) pp. 3551-60.
[DOI][WoS][Pmid][serval:BIB_73E7157F5634]
MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene
Storlazzi C. T., Fioretos T., Surace C., Lonoce A., Mastrorilli A., Strombeck B., D'Addabbo P., Iacovelli F., Minervini C., Aventin A. et al., 2006/03. Human Molecular Genetics, 15 (6) pp. 933-42.
[URN][DOI][WoS][Pmid][serval:BIB_C17255B68355]
 
Combination of broad molecular screening and cytogenetic analysis for genetic risk assignment and diagnosis in patients with acute leukemia
Meyer-Monard S., Parlier V., Passweg J., Muhlematter D., Hess U., Bargetzi M., Kuhne T., Cabrol C., Gratwohl A., Jotterand M. et al., 2006/02. Leukemia, 20 (2) pp. 247-53.
[DOI][WoS][Pmid][serval:BIB_E906CEB73608]
 
A unique set of SH3-SH3 interactions controls IB1 homodimerization.
Kristensen O., Guenat S., Dar I., Allaman-Pillet N., Abderrahmani A., Ferdaoussi M., Roduit R., Maurer F., Beckmann J.S., Kastrup J.S. et al., 2006. EMBO Journal, 25 (4) pp. 785-797. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8020128E6107]
 
Blocking stress signaling pathways with cell permeable peptides
Bonny C., 2006. Advances in Experimental Medicine and Biology, 588 pp. 133-43.
[WoS][Pmid][serval:BIB_31A36E1480A5]
Fast generation of high producer cho cell lines by an iterative transfection process
Girod P.A., Grandjean M., Calabrese D., Martinet D., Beckmann J., Mermod N., 2006. pp. S41 dans 4th Recombinant Protein Production Meeting, Microbial Cell Factories. Peer-reviewed.
[URN][DOI][serval:BIB_B2EC90518D2B]
 
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Martinet D., Vial Y., Thonney F., Beckmann J.S., Meagher-Villemure K., Unger S., 2006. American Journal of Medical Genetics. Part A, 140 (7) pp. 769-774. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7E905F14CAE4]
 
Genetic characterization of CHO production host DG44 and derivative recombinant cell lines
Derouazi M., Martinet D., Besuchet Schmutz N., Flaction R., Wicht M., Bertschinger M., Hacker D. L., Beckmann J. S., Wurm F. M., 2006. Biochemical and Biophysical Research Communications, 340 (4) pp. 1069-77. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_591A760B0B33]
 
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella Raffaele, Schaefer Elke, LeMerrer Martine, Alanay Yasemin, Kandemir Nurgun, Eich Georg, Costa Teresa, Ballhausen Diana, Boltshauser Eugen, Bonafé Luisa et al., 2006. American Journal of Medical Genetics Part A, 140 (6) pp. 541-550.
[DOI][serval:BIB_DE90D4D024A9]
 
The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: a descriptive study.
Meijer W.M., Cornel M.C., Dolk H., de Walle H.E., Armstrong N.C., de Jong-van den Berg L.T., EUROCAT Working Group, 2006. Pharmacoepidemiology and Drug Safety, 15 (9) pp. 675-682. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_49DDBB1FA87C]
 
When to refer for neurogenetic assessment
Rieubland C., Jacquemont S., Addor M.C., Cina V., Beckmann J., Fellmann F., 2006. Schweizer Archiv für Neurologie und Psychiatrie = Archives Suisses de Neurologie et de Psychiatrie = Archivio Svizzero Di Neurologia E Psichiatria, 157 (8) pp. 346-354.
[serval:BIB_16657F0319B4]
2005
 
D-TAT transporter as an ocular peptide delivery system
Schorderet D. F., Manzi V., Canola K., Bonny C., Arsenijevic Y., Munier F. L., Maurer F., 2005/12. Clinical and Experimental Ophthalmology, 33 (6) pp. 628-35.
[DOI][WoS][Pmid][serval:BIB_6BF22C0030B2]
 
Extracellular signal-regulated kinase is essential for interleukin-1-induced and nuclear factor kappaB-mediated gene expression in insulin-producing INS-1E cells
Larsen L., Storling J., Darville M., Eizirik D. L., Bonny C., Billestrup N., Mandrup-Poulsen T., 2005/12. Diabetologia, 48 (12) pp. 2582-90.
[DOI][WoS][Pmid][serval:BIB_1DE751435368]
 
CBFB-SMMHC is correlated with increased calreticulin expression and suppresses the granulocytic differentiation factor CEBPA in AML with inv(16)
Helbling D., Mueller B. U., Timchenko N. A., Schardt J., Eyer M., Betts D. R., Jotterand M., Meyer-Monard S., Fey M. F., Pabst T., 2005/08. Blood, 106 (4) pp. 1369-75.
[DOI][WoS][Pmid][serval:BIB_613A30FECF6C]
 
Broad molecular screening of an unclassifiable myeloproliferative disorder reveals an unexpected ETV6/ABL1 fusion transcript
Meyer-Monard S., Muhlematter D., Streit A., Chase A. J., Gratwohl A., Cross N. C., Jotterand M., Tichelli A., 2005/06. Leukemia, 19 (6) pp. 1096-9.
[DOI][WoS][Pmid][serval:BIB_C8DF1B8D77A4]
 
Role des voies de signalisation intracellulaire dans le developpement du diabete du jeune. [Role of intracellular signalling pathways in the development of type 1 diabetes]
Bonny C., 2005/04. Revue Médicale Suisse, 1 (17) pp. 1153-6.
[Pmid][serval:BIB_BA7B6E962AFD]
 
Antitumorigenic effect of proteasome inhibitors on insulinoma cells.
Størling J., Allaman-Pillet N., Karlsen A.E., Billestrup N., Bonny C., Mandrup-Poulsen T., 2005. Endocrinology, 146 (4) pp. 1718-1726. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_32509]
 
Association Down syndrome-retinoblastoma: a new observation.
Satgè D., Schorderet D.F., Balmer A., Beck-Popovic M., Addor M.C., Beckmann J.S., Munier F.L., 2005. Ophthalmic Genetics, 26 (3) pp. 151-152. Peer-reviewed.
[DOI][Pmid][serval:BIB_32E6AF1C8EA9]
 
On ubiquitin ligases and cancer.
Beckmann J.S., Maurer F., Delorenzi M., Falquet L., 2005. Human mutation, 25 (6) pp. 507-12.
[DOI][WoS][Pmid][serval:BIB_2DFC14F39A8F]
 
Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases.
Beyer V., Mühlematter D., Parlier V., Cabrol C., Bougeon-Mamin S., Solenthaler M., Tobler A., Pugin P., Gregor M., Hitz F. et al., 2005. Cancer genetics and cytogenetics, 160 (2) pp. 97-119. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_07F6F80B0886]
 
Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries.
Wiesel A., Queisser-Luft A., Clementi M., Bianca S., Stoll C., EUROSCAN Study Group, 2005. European Journal of Medical Genetics, 48 (2) pp. 131-44. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AE54F423784D]
 
Prenatal diagnosis of severe structural congenital malformations in Europe.
Garne E., Loane M., Dolk H., De Vigan C., Scarano G., Tucker D., Stoll C., Gener B., Pierini A., Nelen V. et al., 2005. Ultrasound in Obstetrics & Gynecology, 25 (1) pp. 6-11. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DBD7F5749507]
 
Preventing neural tube defects in Europe: a missed opportunity.
Busby A., Abramsky L., Dolk H., Armstrong B., Addor M.C., Anneren G., Armstrong N., Baguette A., Barisic I., Berghold A. et al., 2005. Reproductive Toxicology, 20 (3) pp. 393-402. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E91185755292]
 
Preventing neural tube defects in Europe: population based study.
Busby A., Abramsky L., Dolk H., Armstrong B., Eurocat Folic Acid Working Group, 2005. BMJ, 330 (7491) pp. 574-575.
[DOI][WoS][Pmid][serval:BIB_79A1B9AD77D1]
 
Prévalence des cardiopathies congénitales dans le canton de Vaud et dans le réseau européen durant la période 1989-2003
Addor M.C., 2005. Paediatrica, 16 (5) p. 19.
[serval:BIB_66E292106C60]
 
Report on periconceptional folic acid supplemtation for Switzerland
Addor M.C., 2005. pp. 153-157 dans EUROCAT (eds.) Eurocat NTD Rates and Survey of Folic Acid Policy and Practice in European Countries chap. 2B, Newtownabbey.
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Risk of a Down syndrome live birth in women 45 years of age and older.
Morris J.K., De Vigan C., Mutton D.E., Alberman E., EUROCAT Working Group, 2005. Prenatal Diagnosis, 25 (4) pp. 275-278. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A906D0CBB71C]
 
Season of birth in valvular heart disease.
Bosshardt D., Ajdacic-Gross V., Lang P., Bosshardt M., Bopp M., Addor M.C., Gutzwiller F., 2005. Paediatric and Perinatal Epidemiology, 19 (3) pp. 246-252. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_503AB9086B20]
 
Targeting the JNK pathway as a therapeutic protective strategy for nervous system diseases
Bonny C., Borsello T., Zine A., 2005. Reviews in the Neurosciences, 16 (1) pp. 57-67.
[WoS][Pmid][serval:BIB_1BFEF7DDACD8]
 
Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999.
Dolk H., Loane M., Garne E., De Walle H., Queisser-Luft A., De Vigan C., Addor M.C., Gener B., Haeusler M., Jordan H. et al., 2005. Revue d'Epidémiologie et de Santé Publique, 53 (Spec No 2) pp. 2S87-2S95. Peer-reviewed.
[WoS][Pmid][serval:BIB_AF4E0547F110]
2004
 
A RasGAP-derived cell permeable peptide potently enhances genotoxin-induced cytotoxicity in tumor cells
Michod D., Yang J. Y., Chen J., Bonny C., Widmann C., 2004/11. Oncogene, 23 (55) pp. 8971-8.
[DOI][WoS][Pmid][serval:BIB_455760477805]
 
Intracellular stress signaling pathways activated during human islet preparation and following acute cytokine exposure
Abdelli S., Ansite J., Roduit R., Borsello T., Matsumoto I., Sawada T., Allaman-Pillet N., Henry H., Beckmann J. S., Hering B. J. et al., 2004/11. Diabetes, 53 (11) pp. 2815-23. Peer-reviewed.
[WoS][Pmid][serval:BIB_A39BC6421470]
 
Circadian regulation of islet genes involved in insulin production and secretion
Allaman-Pillet N., Roduit R., Oberson A., Abdelli S., Ruiz J., Beckmann J. S., Schorderet D. F., Bonny C., 2004/10. Molecular and Cellular Endocrinology, 226 (1-2) pp. 59-66. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0132435CECDD]
 
Profiling treatment-specific post-translational modifications in a complex proteome with subtractive substrate phage display
Tenzer A., Hofstetter B., Sauser C., Bodis S., Schubiger A. P., Bonny C., Pruschy M., 2004/09. Proteomics, 4 (9) pp. 2796-804.
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The leukemic fusion gene AML1-MDS1-EVI1 suppresses CEBPA in acute myeloid leukemia by activation of Calreticulin
Helbling D., Mueller B. U., Timchenko N. A., Hagemeijer A., Jotterand M., Meyer-Monard S., Lister A., Rowley J. D., Huegli B., Fey M. F. et al., 2004/09. Proceedings of the National Academy of Sciences of the United States of America, 101 (36) pp. 13312-7.
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Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia
Escher R., Muhlematter D., Scott H. S., Jotterand M., Tobler A., 2004/08. Haematologica, 89 (8) pp. ECR26.
[Pmid][serval:BIB_F289A97F2B8F]
 
Ubiquitin ligases as cancer genes
Beckmann J.S., Maurer F., Delorenzi M., Falquet L., 2004/08. Nature Reviews Cancer, 4 pp. Online Correspondence.
[DOI][serval:BIB_A52378921B36]
 
D-JNKI1, a cell-penetrating c-Jun-N-terminal kinase inhibitor, protects against cell death in severe cerebral ischemia
Hirt L., Badaut J., Thevenet J., Granziera C., Regli L., Maurer F., Bonny C., Bogousslavsky J., 2004/07. Stroke, 35 (7) pp. 1738-43. Peer-reviewed.
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Systematic screening at diagnosis of -5/del(5)(q31), -7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics
Beyer V., Castagne C., Muhlematter D., Parlier V., Gmur J., Hess U., Kovacsovics T., Meyer-Monard S., Tichelli A., Tobler A. et al., 2004/07. Cancer Genetics and Cytogenetics, 152 (1) pp. 29-41.
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Use of cell-permeable peptides to prevent neuronal degeneration
Borsello T., Bonny C., 2004/05. Trends in Molecular Medicine, 10 (5) pp. 239-44.
[DOI][WoS][Pmid][serval:BIB_D0CF6B69D18C]
 
A review of environmental risk factors for congenital anomalies : special report
EUROCAT Working Group, 2004. 104, EUROCAT Central Registry, University of Ulster.
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Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers.
Wellesley D., De Vigan C., Baena N., Cariati E., Stoll C., Boyd P.A., Clementi M., EUROSCAN Study Group, 2004. Annales de Génétique, 47 (4) pp. 373-380. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_92F0D8EB3233]
 
Epidemiology of cleft palate in Europe: implications for genetic research.
Calzolari E., Bianchi F., Rubini M., Ritvanen A., Neville A.J., EUROCAT Working group, 2004. Cleft Palate-Craniofacial Journal, 41 (3) pp. 244-249. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D4EA43963085]
 
Genomic profiling of interpopulation diversity guides prioritization of candidate-genes for autoimmunity.
Grossman I, Avidan N, Singer C, Paperna T, Lancet D, Beckmann JS, Miller A, 2004. Genes Immun, 5 pp. 493-504.
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On the applicability of a haplotype map to un-assayed populations.Hum Genet114(2): 214-7.
Pe'er I, Beckmann JS, 2004. Human Genet, 114 pp. 214-217.
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Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.
Garne E., Loane M., de Vigan C., Scarano G., de Walle H., Gillerot Y., Stoll C., Addor M.C., Stone D., Gener B. et al., 2004. Prenatal Diagnosis, 24 (11) pp. 908-912. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_96CC99DCF6D6]
 
Proteomic signatures: amino acid and oligopeptide compositions differentiate among phyla.
Pe'er I, Felder CE, Man O, Silman I, Sussman JL, Beckmann JS, 2004. Proteins, 54 pp. 20-40.
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Recovering frequencies of known haplotype blocks from single-nucleotide polymorphism allele frequencies.
Pe'er I, Beckmann JS, 2004. Genetics, 166 pp. 3001-2006.
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Skelettdysplasien mit Mutationen im Sulfat Transporter Gen – das DTDST Spektrum.
Zankl Andreas, Bonafé Luisa, Superti-Furga Andrea, 2004. Medizinischegenetik, 16 (1) pp. 32--38.
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Toward the effective surveillance of hypospadias.
Dolk H., Vrijheid M., Scott J.E., Addor M.C., Botting B., de Vigan C., de Walle H., Garne E., Loane M., Pierini A. et al., 2004. Environmental Health Perspectives, 112 (3) pp. 398-402. Peer-reviewed.
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Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.
Baena N., De Vigan C., Cariati E., Clementi M., Stoll C., Caballín M.R., Guitart M., EUROSCAN Working group, 2004. American Journal of Medical Genetics. Part A, 129A (1) pp. 16-20. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3BE3F7129561]
2003
 
Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1.
Allaman-Pillet N., Størling J., Oberson A., Roduit R., Negri S., Sauser C., Nicod P., Beckmann J.S., Schorderet D.F., Mandrup-Poulsen T. et al., 2003/12. Journal of Biological Chemistry, 278 (49) pp. 48720-48726. Peer-reviewed.
[DOI][Pmid][serval:BIB_68939E882CF2]
 
Determination of cutoff values to detect small aneuploid clones by interphase fluorescence in situ hybridization: the Poisson model is a more appropriate approach. Should single-cell trisomy 8 be considered a clonal defect?
Castagne C., Muhlematter D., Beyer V., Parlier V., van Melle G., Jotterand M., 2003/12. Cancer Genetics and Cytogenetics, 147 (2) pp. 99-109.
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CATSPER2, a human autosomal nonsyndromic male infertility gene
Avidan N., Tamary H., Dgany O., Cattan D., Pariente A., Thulliez M., Borot N., Moati L., Barthelme A., Shalmon L. et al., 2003/07. European Journal of Human Genetics, 11 (7) pp. 497-502.
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Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3
Morand S., Buchillier V., Maurer F., Bonny C., Arsenijevic Y., Munier F. L., Schorderet D. F., 2003/07. Investigative Ophthalmology and Visual Science, 44 (7) pp. 2973-9.
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Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe.
Stoll C., Clementi M., Euroscan study group, 2003/06. Ultrasound in obstetrics & gynecology, 21 (6) pp. 543-551. Peer-reviewed.
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson S.P., Twigg S.R., Sutherland-Smith A.J., Biancalana V., Gorlin R.J., Horn D., Kenwrick S.J., Kim C.A., Morava E., Newbury-Ecob R. et al., 2003/04. Nature genetics, 33 (4) pp. 487-491. Peer-reviewed.
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Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.
Jamieson R.V., Munier F., Balmer A., Farrar N., Perveen R., Black G.C., 2003/04. The British Journal of Ophthalmology, 87 (4) pp. 411-412. Peer-reviewed.
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Management of microphthalmos and anophthalmos: prosthetic experience.
Oberhansli C., Charles-Messance D., Munier F., Spahn B., 2003/03. Klinische Monatsblätter für Augenheilkunde, 220 (3) pp. 134-137. Peer-reviewed.
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Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy
Kuntzer T., Dunand M., Schorderet D. F., Vallat J. M., Hahn A. F., Bogousslavsky J., 2003/03. Journal of the Neurological Sciences, 207 (1-2) pp. 77-86. Peer-reviewed.
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100e anniversaire du premier traitement d'un rétinoblastome par irradiation (Hilgartner, 1903) [Centenary of the first radiotherapy treatment of retinoblastoma (Hilgartner, 1903)]
Balmer A., Munier F., Zografos L., 2003. Journal Français d'Ophtalmologie, 26 (10) pp. 1089-1096. Peer-reviewed.
[WoS][Pmid][serval:BIB_9FB5608A5ADC]
 
A mouse model of human congenital cataract due to mutation in the bZIP transciption factor MAF.
Lyon MF, Jamieson RV, Perveen R, Glenister PH, Griffiths R, Boyd Y, Glimcher LH, Favor J, Munier FL, Black GCM, 2003. Hum. Mol. Genet., 12 pp. 585-594.
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A peptide inhibitor of c-Jun N-terminal kinase protects against both aminoglycoside and acoustic trauma-induced auditory hair cell death and hearing loss.
Wang J., Van De Water T.R., Bonny C., de Ribaupierre F., Puel J.L., Zine A., 2003. Journal of Neuroscience, 23 (24) pp. 8596-8607.
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A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia.
Borsello T., Clarke P.G.H., Hirt L., Vercelli A., Repici M., Schorderet D.F., Bogousslavsky J., Bonny C., 2003. Nature Medicine, 9 (9) pp. 1180-1186. Peer-reviewed.
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Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina.
Kostic C., Chiodini F., Salmon P., Wiznerowicz M., Deglon N., Hornfeld D., Trono D., Aebischer P., Schorderet D.F., Munier F.L. et al., 2003. Gene Therapy, 10 (9) pp. 818-821.
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An Assessment and Analysis of Surveillance Data on Hypospadias in Europe : special report
EUROCAT Working Group, 2003. 86, EUROCAT Central Registry, University of Ulster.
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Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ, 2003. Muscle Nerve., 28(4) pp. 472-483.
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Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen. Inv Vis Sci Ophthalmol : .
Gerber D, Munier FL, Niemeyer G, 2003. Inv. Vis. Sci. Ophthalmol., 44 pp. 493-496.
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Crystallization and preliminary crystallographic characterization of an SH3 domain from the IB1 scaffold protein.
Dar I., Bonny C., Pedersen J.T., Gajhede M., Kristensen O., 2003. Acta crystallographica. Section D, Biological crystallography, 59 (Pt 12) pp. 2300-2. Peer-reviewed.
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Cytogénétique des hémopathies malignes
Jotterand M., 2003. Labmed Suisse, 30 pp. 321-326.
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Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35.
Jiao X, Munier FL, Schorderet DF, Zografos L, Smith J, Rubin B, Hejtmancik JF, 2003. Hum Genet., 112(5-6) pp. 593-599.
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La perception du génie génétique sous l'angle des rapports sociaux de sexes Science and technology : gender matters.
Sommer N., Jotterand M, 2003. Commission nationale Suisse pour l'UNESCO pp. 209-224.
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Non-neural regions of the adult human eye: a potential source of neurons?
Arsenijevic Y., Taverney N., Kostic C., Tekaya M., Riva F., Zografos L., Schorderet D., Munier F., 2003. Investigative Ophthalmology and Visual Science, 44 (2) pp. 799-807. Peer-reviewed.
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Prenatal detection of rare chromosomal autosomal abnormalities in Europe.
Baena N., De Vigan C., Cariati E., Clementi M., Stoll C., Caballin M.R., Guitart M., EUROCAT Working group, 2003. American Journal of Medical Genetics. Part A, 118A (4) pp. 319-327. Peer-reviewed.
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Prevention of neural tube defects by periconceptional folic acid supplementation in Europe : special report
EUROCAT Working Group, 2003. 54, EUROCAT Central Registry, University of Ulster.
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Resolution of Haplotypes and Haplotype Frequencies from SNP Genotypes of Pooled Samples.
Pe'er I, Beckmann JS, 2003. RECOMB. pp. 237-246.
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The JNK binding domain of islet-brain 1 inhibits IL-1 induced JNK activity and apoptosis but not the transcription of key proapoptotic or protective genes in insulin-secreting cell lines.
Nikulina M.A., Sandhu N., Shamim Z., Andersen N.A., Oberson A., Dupraz P., Thorens B., Karlsen A.E., Bonny C., Mandrup-Poulsen T., 2003. Cytokine, 24 (1-2) pp. 13-24.
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Toriello-Carey syndrome: delineation and review.
Toriello H.V., Carey J.C., Addor M.C., Allen W., Burke L., Chun N., Dobyns W., Elias E., Gallagher R., Hordijk R. et al., 2003. American Journal of Medical Genetics. Part A, 123A (1) pp. 84-90. Peer-reviewed.
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2002
 
TGFBI gene transcript is transforming growth factor-beta1-responsive and cell density-dependent in a human corneal epithelial cell line.
Wang M., Munier F., Araki-Saski K., Schorderet D., 2002/12. Ophthalmic Genetics, 23 (4) pp. 237-245. Peer-reviewed.
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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
Marmorstein L. Y., Munier F. L., Arsenijevic Y., Schorderet D. F., McLaughlin P. J., Chung D., Traboulsi E., Marmorstein A. D., 2002/10. Proceedings of the National Academy of Sciences of the United States of America, 99 (20) pp. 13067-72.
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A high-resolution allelotype of B-cell chronic lymphocytic leukemia (B-CLL)
Novak U., Oppliger Leibundgut E., Hager J., Muhlematter D., Jotterand M., Besse C., Leupin N., Ratschiller D., Papp J., Kearsey G. et al., 2002/09. Blood, 100 (5) pp. 1787-94.
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Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
Salvi R., Gomez F., Fiaux M., Schorderet D., Jameson J.L., Achermann J.C., Gaillard R.C., Pralong F.P., 2002/09. The Journal of Clinical Endocrinology and Metabolism, 87 (9) pp. 4094-4100. Peer-reviewed.
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Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Marchant D., Gogat K., Dureau P., Sainton K., Sternberg C., Gadin S., Dollfus H., Brasseur G., Hache J.C., Dumur V. et al., 2002/09. Ophthalmic Genetics, 23 (3) pp. 167-174. Peer-reviewed.
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Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
Ren Z., Lin P.Y., Klintworth G.K., Iwata F., Munier F.L., Schorderet D.F., El Matri L., Theendakara V., Basti S., Reddy M. et al., 2002/06. Human genetics, 110 (6) pp. 568-577. Peer-reviewed.
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Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.
Grötzsch H., Pizzolato G.P., Ghika J., Schorderet D., Vingerhoets F.J., Landis T., Burkhard P.R., 2002/06. Neurology, 58 (12) pp. 1839-1842. Peer-reviewed.
[WoS][Pmid][serval:BIB_77A5B40D8546]
 
Role of protein and peptide regulators of the c-Jun N-terminal kinase (JNK) pathway in the apoptosis of insulin-secreting cells.
Bonny C., 2002/06. pp. 287-305 dans Recent Research Developments in Biological Chemistry, Research Signpost.
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DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).
Bonafé L., Blanton S.H., Scott A., Broussard S., Wise C.A., Superti-Furga A., Hecht J.T., 2002/04. Journal of medical genetics, 39 (4) pp. e20. Peer-reviewed.
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An assessment and analysis of existing surveillance data on hypospadias in UK and Europe : special report
EUROCAT Working Group, London School of Hygiene, Tropical Medicine, 2002. 83, University of Ulster, London School of Hygiene and Tropical Medicine.
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Anorectal anomalies associated with or as part of other anomalies.
Cuschieri A., EUROSCAN Working Group, 2002. American Journal of Medical Genetics, 110 (2) pp. 122-30. Peer-reviewed.
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Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions.
Garne E., Haeusler M., Barisic I., Gjergja R., Stoll C., Clementi M., EUROSCAN study group, 2002. Ultrasound in Obstetrics & Gynecology, 19 (4) pp. 329-333. Peer-reviewed.
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Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe.
De Vigan C., Baena N., Cariati E., Clementi M., Stoll C., EUROSCAN Working Group, 2002. Annales de Génétique, 44 (4) pp. 209-217. Peer-reviewed.
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Cytogénétique des hémopathies malignes
Jotterand M., 2002. Médecine et Hygiène, 60 (2389) pp. 838-842.
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Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.
Perrin Y., Addor M.C., Sekarski N., Gaide A.C., Schorderet D.F., 2002. Annales de Génétique, 45 (4) pp. 173-175. Peer-reviewed.
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EUROCAT and orofacial clefts : the epidemiology of orofacial clefts in 30 european regions : special report
EUROCAT Working Group, University of Ulster, University of Ferrara, CNR Institute of Clinical Physiology Pisa, 2002. 14 p., EUROCAT Central Registry, University of Ulster,University of Ferrara, CNR Institute of Clinical Physiology Pisa.
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Folic Acid Supplementation in Europe : A EUROCAT Report : 68
Abramsky L., Addor M.C., Armstrong N., Barisic I., Berghold A., Braz P., Calzolari E., Christiansen M., Cocchi G., Daltveit A. et al., 2002. pp. 435-436 dans 30th Conference of the European Teratology Society, Reproductive Toxicology. Peer-reviewed.
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Partial trisomy 20q in a newborn with dextrocardia.
Addor M.C., Castagne C., Micheli J.L., Schorderet D.F., 2002. Genetic Counseling, 13 (4) pp. 433-440. Peer-reviewed.
[WoS][Pmid][serval:BIB_B780763B4BF3]
 
Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries.
Haeusler M.C., Berghold A., Stoll C., Barisic I., Clementi M., EUROSCAN study group, 2002. Prenatal Diagnosis, 22 (7) pp. 616-623. Peer-reviewed.
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Surveillance of Congenital Anomalies in Europe 1980-1999 : Eurocat Report 8
EUROCAT Working Group, 2002., EUROCAT Central Registry, University of Ulster.
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Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
Schorderet D.F., Addor M.C., Maeder P., Roulet E., Junier L., 2002. Genetic Counseling, 13 (4) pp. 441-447. Peer-reviewed.
[WoS][Pmid][serval:BIB_24700]
2001
 
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland
Mataftsi A., Achache F., Heon E., Mermoud A., Cousin P., Metthez G., Schorderet D. F., Munier F. L., 2001/12. Ophthalmic Genetics, 22 (4) pp. 225-31.
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Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma
Opial D., Boehnke M., Tadesse S., Lietz-Partzsch A., Flammer J., Munier F., Mermoud A., Hirano M., Fluckiger F., Mojon D. S., 2001/07. Graefe's Archive for Clinical and Experimental Ophthalmology, 239 (6) pp. 437-40.
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Chromosom-5q31-abhängige Hornhautdystrophien: Entwurf einer neuen Klassifizierung [Chromosome 5q31 linked corneal dystrophies: outline for a new classification]
Munier F.L., Schorderet D.F., 2001/03. Klinische Monatsblätter für Augenheilkunde, 218 (3) pp. 136-139. Peer-reviewed.
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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Marchant D., Gogat K., Boutboul S., Péquignot M., Sternberg C., Dureau P., Roche O., Uteza Y., Hache J.C., Puech B. et al., 2001/03. Human mutation, 17 (3) p. 235. Peer-reviewed.
[DOI][Pmid][serval:BIB_C02F7DE0E5F2]
 
Molecular characterization of the deletion in retinoblastoma patients with 13q14 cytogenetic anomalies
Lavanchy L., Munier F. L., Cousin P., Gaide A. C., Thonney F., Schorderet D. F., 2001/03. Ophthalmic Genetics, 22 (1) pp. 1-10.
[Pmid][serval:BIB_A12922FB3702]
 
A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.
Zankl A., Addor M.C., Maeder-Ingvar M.M., Schorderet D.F., 2001. European Journal of Pediatrics, 160 (2) pp. 123-127. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F271DBF251E0]
 
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
Héon E., Paterson A.D., Fraser M., Billingsley G., Priston M., Balmer A., Schorderet D.F., Verner A., Hudson T.J., Munier F.L., 2001. American journal of human genetics, 68 (3) pp. 772-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_21057]
 
Cell-permeable peptide inhibitors of JNK: novel blockers of beta-cell death
Bonny C., Oberson A., Negri S., Sauser C., Schorderet D. F., 2001/01. Diabetes, 50 (1) pp. 77-82.
[DOI][WoS][Pmid][serval:BIB_D459D3A48292]
 
Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.
Cuschieri A., EUROCAT Working group, 2001. American Journal of Medical Genetics, 103 (3) pp. 207-215. Peer-reviewed.
[WoS][Pmid][serval:BIB_8E783C8DAF87]
 
Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe.
Stoll C., Tenconi R., Clementi M., EUROSCAN study group, 2001. Community genetics, 4 (4) pp. 225-232.
[DOI][Pmid][serval:BIB_2E15DEB6A213]
 
Diagnostic et traitement des tumeurs intra-oculaires chez l'enfant [Diagnosis and treatment of intraocular tumors in the child]
Balmer A., Munier F., 2001. Klinische Monatsblätter für Augenheilkunde, 218 (5) pp. 292-7. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CFD8234DC496]
 
Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.
Stoll C., Garne E., Clementi M., EUROSCAN study group, 2001. Prenatal Diagnosis, 21 (4) pp. 243-52. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F7F4978D0295]
 
Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries.
Garne E., Stoll C., Clementi M., EUROSCAN Study Group, 2001. Ultrasound in Obstetrics & Gynecology, 17 (5) pp. 386-391. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9A2E84BD893A]
 
Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries.
Barisic I., Clementi M., Häusler M., Gjergja R., Kern J., Stoll C., EUROCAT Study Group, 2001. Ultrasound in Obstetrics & Gynecology, 18 (4) pp. 309-316. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0AFBB45E2E61]
 
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.
Zankl A., Addor M.C., Cousin P., Gaide A.C., Gudinchet F., Schorderet D.F., 2001. European Journal of Pediatrics, 160 (5) pp. 296-299.
[DOI][WoS][Pmid][serval:BIB_ABE4579D86A5]
 
Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.
Bojinova R.I., Schorderet D.F., Addor M.C., Gaide A.C., Thonney F., Pescia G., Nenadov-Beck M., Balmer A., Munier F.L., 2001. Ophthalmic Genetics, 22 (1) pp. 11-18. Peer-reviewed.
[Pmid][serval:BIB_E2C7896DD812]
 
Le diagnostic prénatal: l'approche moléculaire.
Schorderet DF, 2001. Le Fait Médical, 48 pp. 4-5.
[serval:BIB_21066]
 
Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen cause two forms of corneal endothelial dystrophy.
Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C et al., 2001. Hum Mol Genet, 10 pp. 2415-2423.
[serval:BIB_21068]
 
Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.
Hutter P, Rey-Berthod C, Chappuis PO, Couturier A, Membrez V, Murphy A, Joris F, Schorderet DF, Delozier-Blanchet C, Soravia C, 2001. Human Mutation, 18 p. 550.
[serval:BIB_21067]
Screening for foetal malformations: performance of routine ultrasonography in the population of the Swiss Canton of Vaud.
Vial Y., Tran C., Addor M.C., Hohlfeld P., 2001. Swiss Medical Weekly, 131 (33-34) pp. 490-494. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_8632C6F5B661]
 
The Euroscan study.
Clementi M., Stoll C., 2001. Ultrasound in Obstetrics & Gynecology, 18 (4) pp. 297-300. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_915616941B4E]
 
The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1).
Abderrahmani A., Steinmann M., Plaisance V., Niederhauser G., Haefliger J.A., Mooser V., Bonny C., Nicod P., Waeber G., 2001. Molecular and cellular biology, 21 (21) pp. 7256-67. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_54A98A734031]
 
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Guymer RH, Heon E, Lotery AJ, Munier FL, Schorderet DF, Baird PN, McNeil RJ, Haines H, Sheffield VC, Stone EM, 2001. Arch Ophthalmol, 119 pp. 745-751.
[serval:BIB_21064]
2000
 
The c-Jun amino-terminal kinase pathway is preferentially activated by interleukin-1 and controls apoptosis in differentiating pancreatic beta-cells
Ammendrup A., Maillard A., Nielsen K., Aabenhus Andersen N., Serup P., Dragsbaek Madsen O., Mandrup-Poulsen T., Bonny C., 2000/09. Diabetes, 49 (9) pp. 1468-76.
[DOI][WoS][Pmid][serval:BIB_8D44E3D36666]
 
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene
Schorderet D. F., Menasche M., Morand S., Bonnel S., Buchillier V., Marchant D., Auderset K., Bonny C., Abitbol M., Munier F. L., 2000/08. Biochemical and Biophysical Research Communications, 274 (2) pp. 267-74.
[DOI][WoS][Pmid][serval:BIB_5BDCB3B57885]
 
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes
Eliez S., Palacio-Espasa F., Spira A., Lacroix M., Pont C., Luthi F., Robert-Tissot C., Feinstein C., Schorderet D. F., Antonarakis S. E. et al., 2000/06. European Child and Adolescent Psychiatry, 9 (2) pp. 109-14.
[DOI][WoS][Pmid][serval:BIB_87C8F32DF771]
 
Diabete et genetique: importance des voies de signalisation intracellulaire. [Diabetes and genetics: significance of intracellular signaling pathways]
Bonny C., Oberson A., Negri S., Sauser C., Schorderet D. F., 2000/05. Revue Médicale de la Suisse Romande, 120 (5) pp. 409-13.
[Pmid][serval:BIB_D6430DF2585F]
 
Hybridation in situ fluorescente (FISH), un complement a l'analyse cytogenetique des hemopathies malignes. [Fluorescent in situ hybridization (FISH), cytogenetic analytical complement for the diagnosis of malignant blood diseases]
Muhlematter D., Castagne C., Beyer V., Martinet D., Parlier V., Jotterand M., 2000/05. Revue Médicale de la Suisse Romande, 120 (5) pp. 393-400.
[Pmid][serval:BIB_A9165EAD2779]
 
L'inactivation du chromosome X chez les mammiferes femelles. [Inactivation of the X-chromosome in female mammals]
Allaman-Pillet N., Kaltenrieder V., Mathieu S., Bonny C., Schorderet D. F., 2000/05. Revue Médicale de la Suisse Romande, 120 (5) pp. 431-4.
[Pmid][serval:BIB_9032A0D2D49E]
 
CD34/QBEND10 immunostaining in bone marrow biopsies: an additional parameter for the diagnosis and classification of myelodysplastic syndromes.
Baur A.S., Meugé-Moraw C., Schmidt P.M., Parlier V., Jotterand M., Delacrétaz F., 2000/02. European Journal of Haematology, 64 (2) pp. 71-79. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_932A16D1E926]
 
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Lotery A.J., Munier F.L., Fishman G.A., Weleber R.G., Jacobson S.G., Affatigato L.M., Nichols B.E., Schorderet D.F., Sheffield V.C., Stone E.M., 2000. Investigative ophthalmology & visual science, 41 (6) pp. 1291-6. Peer-reviewed.
[WoS][Pmid][serval:BIB_3F4467809AF3]
 
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein.
Korvatska E., Henry H., Mashima Y., Yamada M., Bachmann C., Munier F.L., Schorderet D.F., 2000. The Journal of biological chemistry, 275 (15) pp. 11465-9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7A63A4B0481A]
 
An uncommon G375C substitution in a newborn with achondroplasia.
Addor M.C., Gudinchet F., Truttmann A., Schorderet D.F., 2000. Genetic Counseling, 11 (2) pp. 169-174. Peer-reviewed.
[WoS][Pmid][serval:BIB_35B5831B89F7]
 
cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein.
Negri S., Oberson A., Steinmann M., Sauser C., Nicod P., Waeber G., Schorderet D.F., Bonny C., 2000. Genomics, 64 (3) pp. 324-30. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C282A470EB26]
 
Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.
Zankl A., Addor M.C., Gaide A.C., Thonney F., Cousin P., Schorderet D.F., Gudinchet F., Nenadov-Beck M., 2000. American Journal of Medical Genetics, 95 (5) pp. 510-512.
[DOI][WoS][Pmid][serval:BIB_6DBE546CD6CE]
 
Consultation multidisciplinaire d'oncologie prédictive: expérience lausannoise.
Perey L, Schorderet DF, 2000. Revue Médicale Suisse, 120 pp. 415-418.
[serval:BIB_15284]
 
Der Anteil pränatal erfasster Fälle von ausgewählten Fehlbildungen in der EUROCAT-Studie. Ergebnisse im Kanton Zürich von 1988 bis 1997 [Data on selected prenatal malformations in the EUROCAT study. Results of Zurich Canton from 1988 to 1997]
Achermann S., Addor M.C., Schinzel A., 2000. Schweizerische Medizinische Wochenschrift, 130 (38) pp. 1326-1331. Peer-reviewed.
[WoS][Pmid][serval:BIB_7DA43009EF53]
 
Diagnostic, traitement et prise en charge familiale du rétinoblastome.
Munier FL, Balmer A, Schorderet DF, 2000. Revue Médicale Suisse, 120 pp. 443-447.
[serval:BIB_15287]
 
Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group.
Clementi M., Tenconi R., Bianchi F., Stoll C., EUROSCAN study group, 2000. Prenatal Diagnosis, 20 (11) pp. 870-875. Peer-reviewed.
[WoS][Pmid][serval:BIB_0A0E4F6650BB]
 
Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group.
Stoll C., Wiesel A., Queisser-Luft A., Froster U., Bianca S., Clementi M., EUROSCAN study group, 2000. Prenatal Diagnosis, 20 (10) pp. 811-818. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4ADAD6F1C572]
 
Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
Gill D., Klose R., Munier F.L., McFadden M., Priston M., Billingsley G., Ducrey N., Schorderet D.F., Héon E., 2000. Investigative ophthalmology & visual science, 41 (1) pp. 159-65. Peer-reviewed.
[WoS][Pmid][serval:BIB_78C9D008D9B4]
 
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.
Jiao X., Munier F.L., Iwata F., Hayakawa M., Kanai A., Lee J., Schorderet D.F., Chen M.S., Kaiser-Kupfer M., Hejtmancik J.F., 2000. American journal of human genetics, 67 (5) pp. 1309-13. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_15268]
 
IB1 reduces cytokine-induced apoptosis of insulin-secreting cells.
Bonny C., Oberson A., Steinmann M., Schorderet D.F., Nicod P., Waeber G., 2000. Journal of Biological Chemistry, 275 (22) pp. 16466-16472. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E50D7CCD42ED]
 
L'enfant dysmorphique: quelques définitions [The abnormal child: several definitions]
Addor M.C., Schorderet D.F., 2000. Revue Médicale de la Suisse Romande, 120 (5) pp. 419-24.
[Pmid][serval:BIB_17C3E642B337]
 
L'hybridation fluorescente in situ (FISH). Une aide diagnostique dans certaines anomalies chromosomiques [Fluorescent in situ hybridization (FISH). Diagnostic aide in certain chromosomal anomalies]
Zankl A., Addor M.C., Thonney F., Gaide A.C., Schorderet D.F., 2000. Revue Médicale de la Suisse Romande, 120 (5) pp. 389-392.
[Pmid][serval:BIB_C7B6414CC0AD]
 
L'intéret d'enregistrements systèmatique de donnés médiales [Concern with systematic registration of medical data]
Ayme S., Addor M.C., 2000. Schweizerische Medizinische Wochenschrift, 130 (38) pp. 1317-8. Peer-reviewed.
[WoS][Pmid][serval:BIB_22E3B0E94EBB]
 
La trisomie 21 et son dépistage prénatal dans le canton de Vaud (1980-1996) [Trisomy 21 and its prenatal detection in the Canton of Vaud (1980-1996)]
Pescia G., Addor M.C., 2000. Schweizerische Medizinische Wochenschrift, 130 (38) pp. 1332-1338. Peer-reviewed.
[WoS][Pmid][serval:BIB_1F52BC7DAFC4]
 
Le syndrome de Turner [Turner syndrome]
Monney C., Pescia G., Addor M.C., 2000. Schweizerische Medizinische Wochenschrift, 130 (38) pp. 1339-1343. Peer-reviewed.
[WoS][Pmid][serval:BIB_EEB37DEC41A6]
 
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F., Landau M., Cousin P., Mevorah B., Brenner S., Panizzon R., Schorderet D.F., Hohl D., Huber M., 2000. American journal of human genetics, 67 (5) pp. 1296-301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_15267]
 
Principes médico-éthiques concernant les xénotransplantations.
Genton N, Baertschi B, Dermange F, Hartmann Y, Geannet M, Rothlin M, Schaad B, Schorderet DF, Stratenwerth G, Thomann P, 2000. Bulletin des Médecins Suisses, 31 pp. 1724-1730.
[serval:BIB_15292]
 
Recours au diagnostic prénatal rapide par l'analyse FISH des cellules du liquide amniotique non cultivées.
Marguerat P, Gaide AC, Thonney G, Schorderet D, 2000. Revue Médicale Suisse, 120 pp. 401-407.
[serval:BIB_15282]
 
Registration of congenital anomalies in Switzerland by EUROCAT.
Addor M.C., Pescia G., Schorderet D.F., 2000. Schweizerische Medizinische Wochenschrift, 130 (38) pp. 1319-1325. Peer-reviewed.
[WoS][Pmid][serval:BIB_8C10FECA563C]
 
Spatial, temporal and subcellular localization of islet-brain 1 (IB1), a homologue of JIP-1, in mouse brain.
Pellet J.B., Haefliger J.A., Staple J.K., Widmann C., Welker E., Hirling H., Bonny C., Nicod P., Catsicas S., Waeber G. et al., 2000. European Journal of Neuroscience, 12 (2) pp. 621-632. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9B6454A8FA23]
 
The 5' repeat elements of the mouse Xist gene inhibit the transcription of X-linked genes
Allaman-Pillet N., Djemai A., Bonny C., Schorderet D. F., 2000. Gene Expression, 9 (3) pp. 93-101.
[WoS][Pmid][serval:BIB_198D8378FDA7]
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