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Andre Megarbane
Andre Megarbane
Lebanese American University, School of Medicine
Adresse e-mail validée de lau.edu.lb
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Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
J Magré, M Delépine, E Khallouf, T Gedde-Dahl, L Van Maldergem, ...
Nature genetics 28 (4), 365-370, 2001
8562001
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ...
Science 319 (5864), 816-819, 2008
4642008
Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report
H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ...
Genetics in Medicine 13 (9), 841-847, 2011
4262011
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome
A Mégarbané, A Ravel, C Mircher, F Sturtz, Y Grattau, MO Rethoré, ...
Genetics in Medicine 11 (9), 611-616, 2009
3602009
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia–absent radius syndrome
E Klopocki, H Schulze, G Strauß, CE Ott, J Hall, F Trotier, S Fleischhauer, ...
The American Journal of Human Genetics 80 (2), 232-240, 2007
3592007
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ...
Nature genetics 38 (5), 521-524, 2006
3462006
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
N Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ...
The American Journal of Human Genetics 75 (5), 801-806, 2004
3312004
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
L Van Maldergem, J Magre, TE Khallouf, T Gedde-Dahl, M Delepine, ...
Journal of medical genetics 39 (10), 722-733, 2002
3252002
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
SL Masters, V Lagou, I Jéru, PJ Baker, L Van Eyck, DA Parry, D Lawless, ...
Science translational medicine 8 (332), 332ra45-332ra45, 2016
3112016
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
A Brehm, Y Liu, A Sheikh, B Marrero, E Omoyinmi, Q Zhou, ...
The Journal of clinical investigation 125 (11), 4196-4211, 2015
3072015
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
L Adaimy, E Chouery, H Mégarbané, S Mroueh, V Delague, E Nicolas, ...
The American Journal of Human Genetics 81 (4), 821-828, 2007
3052007
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ...
The American Journal of Human Genetics 89 (3), 415-423, 2011
2672011
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
L McGregor, V Makela, SM Darling, S Vrontou, G Chalepakis, C Roberts, ...
Nature genetics 34 (2), 203-208, 2003
2662003
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease
A Guilbot, A Williams, N Ravisé, C Verny, A Brice, DL Sherman, ...
Human molecular genetics 10 (4), 415-422, 2001
2602001
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ...
Nature genetics 37 (3), 221-224, 2005
2532005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
L Van Maldergem, HA Siitonen, N Jalkh, E Chouery, M De Roy, ...
Journal of medical genetics 43 (2), 148-152, 2006
2482006
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ...
The American Journal of Human Genetics 89 (1), 7-14, 2011
2442011
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ...
Brain 133 (6), 1810-1822, 2010
2412010
Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease
H Liu, L El Zein, M Kruse, R Guinamard, A Beckmann, A Bozio, G Kurtbay, ...
Circulation: Cardiovascular Genetics 3 (4), 374-385, 2010
2312010
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
C Lefèvre, B Bouadjar, V Ferrand, G Tadini, A Mégarbané, M Lathrop, ...
Human Molecular Genetics 15 (5), 767-776, 2006
2282006
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