Subtelomeric deletion of 12p: Description of a third case and review
Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML. Am J Med Genet A. 2010 Jun;152A(6):1561-6. Review
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA. J Med Genet. 2010 May;47(5):312-20
Cornelia de Lange syndrome: extending the physical and psychological phenotype
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
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
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
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
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E,…
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. Am J Med Genet A. 2010 Apr;152A(4):924-9
Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy
Febrer A, Rodriguez N, Alias L, Tizzano E. J Rehabil Med. 2010 Mar;42(3):228-31
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Hum…
