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Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: megarbane a. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: megarbane a. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Among authors: megarbane a. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: megarbane a. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484
399 results