New ocular findings in two sisters with Yunis-Varón syndrome and literature review
Corona-Rivera JR, Romo-Huerta CO, López-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC. Eur J Med Genet. 2010 Oct 14
Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Am J Med Genet A. 2010 Oct;152A(10):2670-80
Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations
Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C. Am J Med Genet A. 2010 Oct;152A(10):2661-3
Adaptive behaviour in Angelman syndrome: its profile and relationship to age
Gasca CB, Obiols JE, Bonillo A, Artigas J, Lorente I, Gabau E, Guitart M, Turk J. J Intellect Disabil Res. 2010 Nov;54(11):1024-9. doi: 10.1111/j.1365-2788.2010.01331.x. Epub 2010 Sep 20
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. BMC Med Genet. 2010 Sep 22;11:137
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)
Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Eur J Med Genet. 2010 Aug 10
The importance of rare diseases: from the gene to society
Dodge JA, Chigladze T, Donadieu J, Grossman Z, Ramos F, Serlicorni A, Siderius L, Stefanidis CJ, Tasic V, Valiulis A, Wierzba J. Arch Dis Child. 2010 Aug 12
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Hum Mutat. 2010 Aug;31(8):E1587-93
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser
Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano EF, Jiménez-Yuste V. Thromb Haemost. 2010 Oct;104(4):718-23. Epub 2010 Jul 20
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Am J Med Genet A. 2010 Jun;152A(6):1390-7
