Genetic Laboratories

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135 publications

In press | 2024 | 2023 | 2022 | 2021 | 2020 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2006 | 1999 | 1997 | 1996 | 1995 | 1994 | 1986 | 1984 | 1982 | 1981 | 1980 | 1979 | 1978 | 1976 |
In press
 
A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients
Bdier Amnah Yousuf, Al-Qahtani Faten Abdullah, Kumar Verma Prashant, Alshoaibi Naeem Abdulmoneem, Mohammed Alrayes Nuha, Shaik Noor Ahmad, Foo Roger Sik Yin, Bhuiyan Zahurul Alam, Al-Aama Jumana Y. Archives of Medical Science.
[DOI][serval:BIB_6E39D881387F]
2024
 
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S., McNulty S., Thaxton C., Elnagheeb M., Owens E., Flowers M., Nunnery T., Self A., Palus B., Gorokhova S. et al., 2024/09. Annals of clinical and translational neurology, 11 (9) pp. 2268-2276. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8E8769949B9B]
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
Coukos A., Saglietti C., Sempoux C., Haubitz M., Greuter T., Mittaz-Crettol L., Maurer F., Mdawar-Bailly E., Moradpour D., Alberio L. et al., 2024/08/01. Hepatology communications, 8 (8). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9145CDB2582B]
 
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Kraemer D., Terumalai D., Famiglietti M.L., Filges I., Joset P., Koller S., Maurer F., Meier S., Nouspikel T., Sanz J. et al., 2024/06/17. Journal of personalized medicine, 14 (6). Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1F13342C2B72]
 
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Mohan Shruthi, McNulty Shannon, Thaxton Courtney, Elnagheeb Marwa, Owens Emma, Flowers May, Nunnery Teagan, Self Autumn, Palus Brooke, Gorokhova Svetlana et al., 2024/05/06..
[DOI][Pmid][serval:BIB_86A134361C18]
2023
 
Single-center, observational study of AML/MDS-EB with IDH1/2 mutations: genetic profile, immunophenotypes, mutational kinetics and outcomes.
Papadopoulou V., Schoumans J., Basset V., Solly F., Pasquier J., Blum S., Spertini O., 2023/12. Hematology, 28 (1) p. 2180704. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E1AEFA186EFE]
 
Développements récents en hématologie, Partie 2
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/23. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_E9D38C229944]
 
Développements récents en hématologie, Teil 1
Duchosal Michel A., Alberio Lorenzo, Angelillo-Scherrer Anne, Arber Caroline, Balabanov Stefan, Blum Sabine, Bttcher Steffen, Buser Andreas, Cairoli Anne, Chalandon Yves et al., 2023/08/16. Forum Médical Suisse ‒ Swiss Medical Forum.
[DOI][serval:BIB_BEEE6D0FAED7]
 
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
Alrayes N., Mallah B.A., Issa N.M., Banaganapalli B., Ahmad Shaik N., Nasser K.K., Alshehri B.A., Bhuiyan Z.A., Bdier A.Y., Al-Aama J.Y., 2023/01/30. Gene, 851 p. 146909. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F1287CBEA2FB]
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman D.M., Hitti-Malin R.J., Holtes L.K., de Bruijn S.E., Reurink J., Boonen EGM, Khan M.I., Ali M., Andréasson S., De Baere E. et al., 2023. Frontiers in cell and developmental biology, 11 p. 1112270. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_09C3E6B613E5]
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Papadopoulou V., Schoumans J., Scarpelli I., Blum S., 2023. Acta haematologica, 146 (5) pp. 401-407. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4670AF426CC7]
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches.
Niarakis A., Ostaszewski M., Mazein A., Kuperstein I., Kutmon M., Gillespie M.E., Funahashi A., Acencio M.L., Hemedan A., Aichem M. et al., 2023. Frontiers in immunology, 14 p. 1282859. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_6275E3C6D1A9]
2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C., Pavlidou D.C., Bhuiyan Z., Porretta A.P., Monney P., Bedoni N., Maurer F., Sekarski N., Atallah I., Émeline D. et al., 2022/12. European journal of medical genetics, 65 (12) p. 104627. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_36267BDE9D6F]
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).
Puiggros A., Ramos-Campoy S., Kamaso J., de la Rosa M., Salido M., Melero C., Rodríguez-Rivera M., Bougeon S., Collado R., Gimeno E. et al., 2022/07/11. Cancers, 14 (14) p. 3376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_119F512686F7]
 
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M., Baynam G.S., Beckmann J.S., Beltran S., Buske O.J., Callahan T.J., Chute C.G., Courtot M., Danis D. et al., 2022/06. Nature biotechnology, 40 (6) pp. 817-820. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_33B45C21C858]
Venetoclax combined with FLAG-based chemotherapy induces an early and deep response in mixed-phenotype-acute leukemia.
Ségot A., Stalder G., de Leval L., Solly F., Schoumans J., Basset V., Blum S., Spertini O., 2022/03/01. American journal of hematology, 97 (3) pp. E91-E93. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_92714D3B5868]
Isolated skin infiltration by a blastic plasmacytoid dendritic cell neoplasm.
Stalder G., Milowich D., Blum S., Schoumans J., Bisig B., Spertini O., 2022/02. EJHaem, 3 (1) pp. 259-260. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EC0E8BADE124]
2021
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm H.L., Page AJH, Smith L., Adams J.B., Alterovitz G., Babb L.J., Barkley M.P., Baudis M., Beauvais MJS, Beck T. et al., 2021/11/10. Cell genomics, 1 (2) p. 100029. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_0C82FBDFD245]
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.
Ostaszewski M., Niarakis A., Mazein A., Kuperstein I., Phair R., Orta-Resendiz A., Singh V., Aghamiri S.S., Acencio M.L., Glaab E. et al., 2021/10. Molecular systems biology, 17 (10) pp. e10387. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_1A41D5739AA2]
Great future or greedy venture: Precision medicine needs philosophy.
Jiao F., Guo R., Beckmann J.S., Yan Z., Yang Y., Hu J., Wang X., Xie S., 2021/09. Health science reports, 4 (3) pp. e376. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_28C3E384BE78]
The noradrenergic profile of plasma metanephrine in neuroblastoma patients is reproduced in xenograft mice models and arise from PNMT downregulation.
Abid K., Popovic M.B., Bourloud K.B., Schoumans J., Grand-Guillaume J., Grouzmann E., Mühlethaler-Mottet A., 2021/01/05. Oncotarget, 12 (1) pp. 49-60. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_F6E0642966A2]
Genome-wide association study identifies 48 common genetic variants associated with handedness.
Cuellar-Partida G., Tung J.Y., Eriksson N., Albrecht E., Aliev F., Andreassen O.A., Barroso I., Beckmann J.S., Boks M.P., Boomsma D.I. et al., 2021/01. Nature human behaviour, 5 (1) pp. 59-70. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E7424914D13E]
2020
 
Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.
Flach J., Shumilov E., Joncourt R., Porret N., Tchinda J., Legros M., Scarpelli I., Hewer E., Novak U., Schoumans J. et al., 2020/04. Genes, chromosomes & cancer, 59 (4) pp. 268-274. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC558447CA4C]
2018
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Saprungruang A., Khongphatthanayothin A., Mauleekoonphairoj J., Wandee P., Kanjanauthai S., Bhuiyan Z.A., Wilde AAM, Poovorawan Y., 2018. Indian pacing and electrophysiology journal, 18 (5) pp. 165-171. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_9009FC661638]
2017
 
Cardiology in the Post-Genomic Era : Road to Personalized Medicine
Bhuiyan Zahurul A, 2017/10/10. Bangladesh Heart Journal, 32 (1) pp. 1-2. Peer-reviewed.
[DOI][serval:BIB_D9FBBD74949C]
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Bdier A.Y., Al-Ghamdi S., Verma P.K., Dagriri K., Alshehri B., Jiman O.A., Ahmed S.E., Wilde AAM, Bhuiyan Z.A., Al-Aama J.Y., 2017/09. Molecular genetics & genomic medicine, 5 (5) pp. 592-601. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_137B62B23653]
2016
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
Devalla H.D., Gélinas R., Aburawi E.H., Beqqali A., Goyette P., Freund C., Chaix M.A., Tadros R., Jiang H., Le Béchec A. et al., 2016/12. EMBO molecular medicine, 8 (12) pp. 1390-1408. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EB060DB2BDA6]
 
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
Pipilas D.C., Johnson C.N., Webster G., Schlaepfer J., Fellmann F., Sekarski N., Wren L.M., Ogorodnik K.V., Chazin D.M., Chazin W.J. et al., 2016/10. Heart rhythm, 13 (10) pp. 2012-2019. Peer-reviewed.
[DOI][Pmid][serval:BIB_4D0474E4A1C5]
 
Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.
Singh A., Prasad R., Singh R., Kapoor S., Bhuiyan Z.A., Mishra O.P., 2016/09. Indian journal of pediatrics, 83 (9) pp. 1038-1039. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D563A42D6884]
Pheochromocytoma Masked by Mutation in the TH Gene.
Abid K., Afshar K., Fontana E., Ducry J., Rotman S., Stauffer E., Fellmann F., Tschopp O., Bhuiyan Z.A., Grouzmann E., 2016/07. Clinical chemistry, 62 (7) pp. 924-928. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_475789A533F9]
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Asadi M., Foo R., Bhuiyan Z.A., Samienasab M.R., Salehi A.R., Shahrzad S., Salehi R., 2016/03. Anatolian journal of cardiology, 16 (3) pp. 170-174. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4D79D6A819CA]
 
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Noël E.S., Momenah T.S., Al-Dagriri K., Al-Suwaid A., Al-Shahrani S., Jiang H., Willekers S., Oostveen Y.Y., Chocron S., Postma A.V. et al., 2016. Human Mutation, 37 (2) pp. 194-200. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A3FF6062D29]
Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.
Maurer F., Pradervand S., Guilleret I., Nanchen D., Maghraoui A., Chapatte L., Bojkowska K., Bhuiyan Z.A., Jacquemont N., Harshman K. et al., 2016. Swiss medical weekly, 146 pp. w14326. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_3496C46C20B6]
 
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Fellmann F., Angelini F., Wassenberg J., Perreau M., Arenas Ramirez N., Simon G., Boyman O., Demaria O., Christen-Zaech S., Hohl D. et al., 2016. Journal of Allergy and Clinical Immunology, 137 (4) pp. 1189-96.e1-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D933D1DD0E0F]
2015
Evolution of Genetic Techniques: Past, Present, and Beyond.
Durmaz A.A., Karaca E., Demkow U., Toruner G., Schoumans J., Cogulu O., 2015. Biomed Research International, 2015 p. 461524. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_B7C00E8C5FE4]
 
Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.
Sayeed M.Z., Salam M.A., Islam A.K., Bhuiyan Z.A., 2015. Clinical Genetics, 88 (5) pp. 502-504. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6B38F4FA68F3]
 
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., AlQarawi A., Jiman O.A., Al-Aama N., Al-Aata J., Wilde A.A., Bhuiyan Z.A., 2015. Clinical Genetics, 87 (1) pp. 74-79. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C6B12351CD0F]
Laboratory genetic testing in clinical practice 2014.
Cogulu O., Schoumans J., Toruner G., Demkow U., Karaca E., Durmaz A.A., 2015. Biomed Research International, 2015 p. 574798.
[URN][DOI][WoS][Pmid][serval:BIB_E37B11FCE119]
 
Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.
Aburawi E.H., Aburawi H.E., Bagnall K.M., Bhuiyan Z.A., 2015. Trends In Cardiovascular Medicine, 25 (4) pp. 291-301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30A7A78754B2]
 
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Suter M.R., Bhuiyan Z.A., Laedermann C.J., Kuntzer T., Schaller M., Stauffacher M.W., Roulet E., Abriel H., Decosterd I., Wider C., 2015. Anesthesiology, 122 (2) pp. 414-423. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3302716943FA]
Sudden cardiac death among general population and sport related population in forensic experience.
Chappex N., Schlaepfer J., Fellmann F., Bhuiyan Z.A., Wilhelm M., Michaud K., 2015. Journal of Forensic and Legal Medicine, 35 pp. 62-68. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9645DEF7D105]
Sudden cardiac death in forensic medicine - Swiss recommendations for a multidisciplinary approach.
Wilhelm M., Bolliger S.A., Bartsch C., Fokstuen S., Gräni C., Martos V., Medeiros Domingo A., Osculati A., Rieubland C., Sabatasso S. et al., 2015. Swiss Medical Weekly, 145 pp. w14129. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A473048EE872]
2014
 
A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence.
Marsman R.F., Barc J., Beekman L., Alders M., Dooijes D., van den Wijngaard A., Ratbi I., Sefiani A., Bhuiyan Z.A., Wilde A.A. et al., 2014. Journal of the American College of Cardiology, 63 (3) pp. 259-266.
[DOI][WoS][Pmid][serval:BIB_BD99F0200585]
 
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., Wilde A.A., Bhuiyan Z.A., 2014. Clinical Genetics, 86 (5) pp. 492-495.
[DOI][WoS][Pmid][serval:BIB_12C3E1B114D8]
 
Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.
Zachariadis V., Schoumans J., Ofverholm I., Barbany G., Halvardsson E., Forestier E., Johansson B., Nordenskjöld M., Nordgren A., 2014/01. Leukemia, 28 (1) pp. 196-198. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E08DBD6C9C67]
 
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.
Bhuiyan Z.A., Alswaid A., Belfiore M., Al-Ghamdi S.S., Liang J., Schlaepffer J., 2014. International Journal of Cardiology, 172 (1) pp. 276-277.
[DOI][WoS][Pmid][serval:BIB_2B45E57668C1]
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N., Yagihara N., Crotti L., Johnson C.N., Beckmann B.M., Roh M.S., Shigemizu D., Lichtner P., Ishikawa T., Aiba T. et al., 2014. Circulation. Cardiovascular Genetics, 7 (4) pp. 466-474. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9EDE87D756E5]
2013
 
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P., van Bon B.W., Steehouwer M., Rodríguez-Santiago B., Simpson M., Dias P., Anderlid B.M., Arts P., Bhat M., Augello B. et al., 2013/12. Clinical genetics, 84 (6) pp. 539-545. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F7CFC1017987]
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E., Du L., Visnes T., Björkman A., Lindgren E., Wincent J., Borck G., Colleaux L., Cormier-Daire V., van Gent D.C. et al., 2013/11/18. The Journal of experimental medicine, 210 (12) pp. 2503-2513. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D9ED1016C1ED]
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.
Zumhagen S., Veldkamp M.W., Stallmeyer B., Baartscheer A., Eckardt L., Paul M., Remme C.A., Bhuiyan Z.A., Bezzina C.R., Schulze-Bahr E., 2013. Plos One, 8 (6) pp. e67963.
[URN][DOI][WoS][Pmid][serval:BIB_9F7459C01C67]
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]
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]
 
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]
 
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F., Bruno D.L., Eriksson M., van Ravenswaaij-Arts C., Stark Z., Dijkhuizen T., Gerkes E., Gimelli S., Ganesamoorthy D., Thuresson A.C. et al., 2013. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 162 (4) pp. 388-403.
[DOI][WoS][Pmid][serval:BIB_476973923510]
 
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]
 
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]
2012
 
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]
 
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]
 
Genome-wide arrays in routine diagnostics of hematological malignancies.
Simons A., Sikkema-Raddatz B., de Leeuw N., Konrad N.C., Hastings R.J., Schoumans J., 2012. Human Mutation, 33 (6) pp. 941-948.
[DOI][WoS][Pmid][serval:BIB_99054AD77ECE]
 
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]
 
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.
Zachariadis V., Schoumans J., Barbany G., Heyman M., Forestier E., Johansson B., Nordenskjöld M., Nordgren A., 2012. British Journal of Haematology, 159 (4) pp. 488-491. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_68D45CF12203]
Presence of an oligodendroglioma-like component in newly diagnosed glioblastoma identifies a pathogenetically heterogeneous subgroup and lacks prognostic value: central pathology review of the EORTC_26981/NCIC_CE.3 trial.
Hegi M.E., Janzer R.C., Lambiv W.L., Gorlia T., Kouwenhoven M.C., Hartmann C., von Deimling A., Martinet D., Besuchet Schmutz N., Diserens A.C. et al., 2012. Acta Neuropathologica, 123 (6) pp. 841-852. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6613022C4BFB]
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]
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]
 
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]
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]
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]
 
Antagonism of mGluR5 in Fragile X: A Randomized, Placebo-Controlled, Proof-of-Concept Study of AFQ056, a Novel, Sub-Type Selective mGluR5 Antagonist
Gomez-Mancilla B., Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K.i.m., He Y. et al., 2011. p. 25 dans 7th International Meeting on Metabotropic Glutamate Receptors, Current Neuropharmacology. Peer-reviewed.
[WoS][serval:BIB_A0E03400D098]
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]
 
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Bremer A., Giacobini M., Eriksson M., Gustavsson P., Nordin V., Fernell E., Gillberg C., Nordgren A., Uppströmer A., Anderlid B.M. et al., 2011. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 156 (2) pp. 115-124.
[DOI][WoS][Pmid][serval:BIB_706BED790797]
 
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]
 
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]
 
Extent and patterns of MGMT promoter methylation in glioblastoma- and respective glioblastoma-derived spheres.
Sciuscio D., Diserens A.C., van Dommelen K., Martinet D., Jones G., Janzer R.C., Pollo C., Hamou M.F., Kaina B., Stupp R. et al., 2011. Clinical Cancer Research, 17 (2) pp. 255-266.
[DOI][WoS][Pmid][serval:BIB_8D444B905B51]
 
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]
High-level transgene expression by homologous recombination-mediated gene transfer.
Grandjean M., Girod P.A., Calabrese D., Kostyrko K., Wicht M., Yerly F., Mazza C., Beckmann J.S., Martinet D., Mermod N., 2011. Nucleic Acids Research, 39 (15) pp. e104.
[URN][DOI][WoS][Pmid][serval:BIB_ADEE6654D99A]
 
Interpretation of array comparative genome hybridization data: a major challenge.
Gijsbers A.C., Schoumans J., Ruivenkamp C.A., 2011. Cytogenetic and Genome Research, 135 (3-4) pp. 222-227. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2FAB3C5D5A25]
 
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]
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]
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]
 
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]
 
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.
Zachariadis V., Gauffin F., Kuchinskaya E., Heyman M., Schoumans J., Blennow E., Gustafsson B., Barbany G., Golovleva I., Ehrencrona H. et al., 2011. Leukemia, 25 (4) pp. 622-628.
[DOI][WoS][Pmid][serval:BIB_CC2F8B06F270]
 
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]
2010
 
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]
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]
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 study on the clinical significance of the who aml subtype inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q chromosomal abnormalities in 6,819 aml cases
Lugthart S., Groeschel S., Beverloo H., Valk P., Schanz U., Bhola S., Vellenga E., Kayser S., Ossenkoppele G., Verhoef G. et al., 2010. p. 482 dans 15th Annual Meeting of the European Hematology Association, Haematologica. Peer-reviewed.
[WoS][serval:BIB_644527E87B99]
 
Acute myeloid leukemia with myeloid sarcoma and eosinophilia: prolonged remission and molecular response to imatinib.
Vedy Dana, Muehlematter Dominique, Rausch Thierry, Stalder Michele, Jotterand Martine, Spertini Olivier, 2010. Journal of Clinical Oncology, 28 (3) pp. e33-55.
[DOI][WoS][Pmid][serval:BIB_E51BF38E903E]
 
Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia.
Lugthart S., Gröschel S., Beverloo H.B., Kayser S., Valk P.J., van Zelderen-Bhola S.L., Jan Ossenkoppele G., Vellenga E., van den Berg-de Ruiter E., Schanz U. et al., 2010. Journal of Clinical Oncology, 28 (24) pp. 3890-3898.
[DOI][WoS][Pmid][serval:BIB_906C954AD411]
 
Clonal heterogeneity and chromosomal instability at disease presentation in high hyperdiploid acute lymphoblastic leukemia.
Talamo Anna, Chalandon Yves, Marazzi Alfio, Jotterand Martine, 2010. Cancer Genetics and Cytogenetics, 203 (2) pp. 209-214. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_1D57061DCBAF]
 
Expression of pSTAT5 predicts FLT3 internal tandem duplications in acute myeloid leukemia.
Obermann Ellen Christina, Arber Caroline, Jotterand Martine, Tichelli Andre, Hirschmann Petra, Tzankov Alexandar, 2010. Annals of Hematology, 89 (7) pp. 663-669.
[DOI][WoS][Pmid][serval:BIB_0C70C2A6D0DA]
 
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]
 
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]
Treatment of 5q-syndrome with lenalidomide in an HIV-positive patient under cART.
Blum Sabine, Cavassini Matthias, Lambert Jean-Francois, Fayet Aurelie, Schapira Marc, Jotterand Martine, 2010. Annals of Hematology, 89 (4) pp. 425-426.
[URN][DOI][WoS][Pmid][serval:BIB_6513BEF5AFEB]
2009
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]
 
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]
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
[DOI][WoS][Pmid][serval:BIB_5E5E949BD2E0]
2008
 
Leukemic cluster growth in culture is an independent risk factor for acute myeloid leukemia and short survival in patients with myelodysplastic syndrome.
Bernimoulin M., Stern M., Tichelli A., Jotterand M., Gratwohl A., Nissen C., 2008. Acta Haematologica, 119 (4) pp. 226-235.
[DOI][WoS][Pmid][serval:BIB_37ADE470A676]
 
Upregulation of MEL1 and FLJ42875 genes by position effect resulting from a t(1;2)(p36;p21) occurring during evolution of chronic myelomonocytic leukemia.
Storlazzi C.T., Albano F., Guastadisegni M.C., Impera L., Mühlematter D., Meyer-Monard S., Wuillemin W., Rocchi M., Jotterand M., 2008. Blood Cells, Molecules and Diseases, 40 (3) pp. 452-455.
[DOI][WoS][Pmid][serval:BIB_510A8ED211DE]
2006
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]
1999
 
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
van der Reijden B.A., Dauwerse H.G., Giles R.H., Jagmohan-Changur S., Wijmenga C., Liu P.P., Smit B., Wessels H.W., Beverstock G.C., Jotterand-Bellomo M. et al., 1999/01/14. Oncogene, 18 (2) pp. 543-550. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_48523476B3B4]
1997
 
Effect of conditioned media, nutritive elements, and mitotic synchronization on the accuracy of the cytogenetic analysis in acute nonlymphocytic leukemia patients presenting with inv(16)/t(16;16) or t(15;17).
Castagné C., Mühlematter D., van Melle G., Gachoud V., Jotterand Bellomo M., 1997/04. Cancer genetics and cytogenetics, 94 (2) pp. 106-112. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2720]
 
Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16).
Giles R.H., Dauwerse J.G., Higgins C., Petrij F., Wessels J.W., Beverstock G.C., Döhner H., Jotterand-Bellomo M., Falkenburg J.H., Slater R.M. et al., 1997. Leukemia, 11 (12) pp. 2087-2096.
[WoS][Pmid][serval:BIB_B7836B63020B]
1996
 
Simple method for detection of MYH11 DNA rearrangements in patients with inv(16)(p13q22) and acute myeloid leukemia.
van der Reijden B.A., Martinet D., Dauwerse J.G., Giles R.H., Wessels J.W., Beverstock G.C., Smit B., Mühlematter D., Jotterand Bellomo M., Gabert J. et al., 1996/09. Leukemia, 10 (9) pp. 1459-1462. Peer-reviewed.
[WoS][Pmid][serval:BIB_7898ADC0B96B]
 
Frequent clonal loss of heterozygosity but scarcity of microsatellite instability at chromosomal breakpoint cluster regions in adult leukemias.
Pabst T., Schwaller J., Bellomo M.J., Oestreicher M., Mühlematter D., Tichelli A., Tobler A., Fey M.F., 1996. Blood, 88 (3) pp. 1026-1034.
[WoS][Pmid][serval:BIB_6DCED4AEBA6C]
 
Tetrasomy 8 in a patient with acute nonlymphocytic leukemia: a metaphase and interphase study with fluorescence in situ hybridization.
Mühlematter D., Castagné C., Bruzzese O., Clément F., Schmidt P.M., Bellomo M.J., 1996. Cancer Genetics and Cytogenetics, 89 (1) pp. 44-48. Peer-reviewed.
[WoS][Pmid][serval:BIB_5469]
1995
 
A non-random chromosome abnormality found in precursor-B lineage acute lymphoblastic leukaemia: dic(9;20)(p1?3;q11).
Slater R., Smit E., Kroes W., Bellomo M.J., Mühlematter D., Harbott J., Behrendt H., Hählen K., Veerman A.J., Hagemeijer A., 1995. Leukemia, 9 (10) pp. 1613-1619.
[WoS][Pmid][serval:BIB_9F4F7FB32DF1]
 
Prediction of 18-month survival in patients with primary myelodysplastic syndrome. A regression model and scoring system based on the combination of chromosome findings and the Bournemouth score.
Parlier V., Van Melle G., Beris P., Schmidt P.M., Tobler A., Haller E., Bellomo M.J., 1995. Cancer genetics and cytogenetics, 81 (2) pp. 158-165. Peer-reviewed.
[WoS][Pmid][serval:BIB_87D55863F772]
 
RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts.
van der Reijden B.A., Lombardo M., Dauwerse H.G., Giles R.H., Mühlematter D., Bellomo M.J., Wessels H.W., Beverstock G.C., van Ommen G.J., Hagemeijer A. et al., 1995. Blood, 86 (1) pp. 277-282.
[WoS][Pmid][serval:BIB_33FEDFA2FAE3]
1994
 
Importance clinique du caryotype en hématologie. [Clinical importance of karyotype in hematology.]
Jotterand Bellomo M., 1994. Schweizerische medizinische Wochenschrift, 124 (1-2) pp. 26-36.
[WoS][Pmid][serval:BIB_648641F61A60]
1986
aIr-1, a newly found locus on mouse chromosome 16 encoding a trans-acting activator factor for MHC class II gene expression.
Accolla R.S., Jotterand-Bellomo M., Scarpellino L., Maffei A., Carra G., Guardiola J., 1986. Journal of Experimental Medicine, 164 (1) pp. 369-374.
[URN][DOI][WoS][Pmid][serval:BIB_B21AFEA3420E]
1984
 
Les sites fragiles autosomiques. [[Autosomal fragile sites].
Jotterand-Bellomo M., 1984. Journal de Génétique Humaine, 32 (3) pp. 155-166.
[WoS][Pmid][serval:BIB_B5F40C38082F]
1982
 
Hommage au Professeur Robert Matthey. [Dedication to Professor Robert Matthey.]
Jotterand-Bellomo M., 1982. Cytogenetics and Cell Genetics, 34 (1-2) pp. 5-9.
[Pmid][serval:BIB_A648059B00EE]
 
Monosomie/trisomie 4q12 leads to q13 en mosaïque chez une enfant arriérée et dysmorphique. [Monosomy/trisomy 4q12 to q13 mosaicism in a retarded and dysmorphic girl.]
Pescia G., Tonella A., Jotterand-Bellomo M., 1982. Annales de Génétique, 25 (2) pp. 110-112.
[WoS][Pmid][serval:BIB_7102C5DF0058]
1981
 
Achalasie avec dolicho-méga-oesophage associée à une surdité de perception et à une translocation balancée 4:9 familiale. [Achalasia with dolichomegaesophagus associated with perceptual deafness of perception and familial 4:9 balanced translocation.]
Pescia G., Jotterand-Bellomo M., Vecerina S., Lanao C., 1981. Revue Médicale de la Suisse Romande, 101 (4) pp. 263-268.
[Pmid][serval:BIB_D3122FCEDAFD]
 
Aspects cliniques et génétiques des translocations balancées: à propos de 7 observations. [Clinical and genetic aspects of balanced translocations: apropos of 7 cases.]
Pescia G., Gaide A.C., Jotterand-Bellomo M., Carrel C.F., 1981. Revue Médicale de la Suisse Romande, 101 (4) pp. 295-301.
[Pmid][serval:BIB_6A84274A7177]
 
Extra microchromosome mosaicism in amniotic cells confirmed in fetal tissues.
Pescia G., Jotterand-Bellomo M., Flury R., 1981. Journal de Génétique Humaine, 28 (5) pp. 175-183.
[WoS][Pmid][serval:BIB_70D4FB307D2A]
 
Hommage au professeur Robert Matthey. [Homage to Professor Robert Matthey.]
Jotterand-Bellomo M., 1981. Revue Médicale de la Suisse Romande, 101 (4) pp. 253-262.
[Pmid][serval:BIB_9853CE444783]
 
Is it always the same NOR that is more active in a pair of acrocentrics with distinct AG-stainings?
Jotterand-Bellomo M., van Melle G., 1981. Human Genetics, 59 (2) p. 185.
[WoS][Pmid][serval:BIB_E2493500641F]
 
Le diagnostic anténatal à Lausanne: à propos de 1500 observations. [Prenatal diagnosis in Lausanne: apropos of 1500 cases.]
Pescia G., Nguyen-The H., Jotterand-Bellomo M., Gaide A.C., 1981. Revue Médicale de la Suisse Romande, 101 (4) pp. 285-288.
[Pmid][serval:BIB_5031C1EE48FE]
 
Un cas de trisomie 22 incomplète due à la malségrégation méiotique d'une translocation familiale 11:12. [Incomplete trisomy 22 due to meiotic malsegregation of a familial 11:12 translocation.]
Pescia G., Jotterand-Bellomo M., Gaide A.C., 1981. Revue Médicale de la Suisse Romande, 101 (4) pp. 325-359.
[Pmid][serval:BIB_2D61C86FED77]
 
Variability of the nucleolar organizer activity in human lymphocytes via Ag-staining.
Jotterand-Bellomo M., van Melle G., 1981. Human Genetics, 59 (2) pp. 141-147.
[WoS][Pmid][serval:BIB_F892403A81C3]
1980
 
Fusion telomérique de deux chromosomes X par leurs bras courts chez une patiente présentant un syndrome de Turner atypique. [Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome.]
Pescia G., Jotterand-Bellomo M., Nguyen T.H., Scholberg-Hermann B., 1980. Journal de Génétique Humaine, 28 (4) pp. 131-140.
[WoS][Pmid][serval:BIB_4F5BE79B3681]
1979
 
Diagnostic prénatal des maladies gététiques. A propos de 500 observations. [Prenatal diagnosis of genetic illnesses. 500 cases.]
Pescia G., Nguyen The H., Vajda D., Tolck P., Cruz J., Jotterand-Bellomo M., 1979. Revue Médicale de la Suisse Romande, 99 (9) pp. 637-642.
[Pmid][serval:BIB_5E632F8D36E1]
 
Phénotype de la trisomie 9q distale chez un enfant présentant un chromosome surnuméraire remanié [t(X;9)]. [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl).]
Pescia G., Jotterand-Bellomo M., de Crousaz H., Payot M., Martin D., 1979. Annales de Génétique, 22 (3) pp. 158-62.
[WoS][Pmid][serval:BIB_3E08BDB39F2D]
1978
 
Les chromosomes humains: matériel et méthodes. [Human chromosomes: material and methods.]
Jotterand-Bellomo M., 1978. Revue Médicale de la Suisse Romande, 98 (1) pp. 3-16.
[Pmid][serval:BIB_6DD0AD5654C8]
 
Les nouvelles méthodes d'analyses chromosomiques en cytogénétique humaine. [New methods for human chromosome analysis (author's transl).]
Jotterand-Bellomo M., 1978. Schweizerische Rundschau für Medizin Praxis = Revue suisse de médecine Praxis, 67 (30) pp. 1093-1102.
[WoS][Pmid][serval:BIB_5CADB1B9DB2B]
 
One case of a Ph1 chromosome resulting from translocation of the distal end 22q onto the short arm of chromosome 15.
Jotterand-Bellomo M., 1978. Cytogenetics and Cell Genetics, 21 (3) pp. 168-169.
[WoS][Pmid][serval:BIB_773E825C767B]
1976
 
Trisomie 22. [Trisomy 22.]
Jotterand-Bellomo M., 1976. Archiv für Genetik, 49-50 (2-3) pp. 134-166.
[Pmid][serval:BIB_B333E17FF445]
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