Publicaciones

Cornelia de Lange syndrome: extending the physical and psychological phenotype

Mayo 1, 2010

Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC. Am J Med Genet A. 2010 May;152A(5):1127-35.

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

Mayo 1, 2010

Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. Arch Dermatol Res. 2010 May;302(4):307-10.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Mayo 1, 2010

D’haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E. Hum Mutat. 2010 May;31(5):E1332-474

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

Mayo 1, 2010

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Am J Hum Genet. 2010 Jun 11;86(6):892-903. Epub 2010 May 20

Publicaciones

Orden según fecha de publicación:

Cornelia de Lange syndrome: extending the physical and psychological phenotype

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability