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Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome

PublicacionesPor SEGCD Agosto 1, 2009

Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695

Unusual four-generation chromosome-22 rearrangement: when “normality” masks abnormality

PublicacionesPor SEGCD Julio 1, 2009

Nevado J, de Torres ML, Fernández L, Mori MA, Villa A, Palomares M, García-Santiago F, Mansilla E, García-Miñaur S, Delicado A, Lapunzina P. Am J Med Genet A. 2009 Jul;149A(7):1561-4. No abstract available

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

PublicacionesPor SEGCD Junio 1, 2009

Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H. Eur J Neurol. 2010 Jan;17(1):160-2. Epub 2009 Jun 15

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

PublicacionesPor SEGCD Junio 1, 2009

Rodríguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R, Armengol L, Vilella E, Gabau E, Guitart M, Guillamat R, Martorell L, Valero J, Gutiérrez-Zotes A, Labad A, Carracedo A, Estivill X, Pérez-Jurado LA. Mol Psychiatry. 2010 Oct;15(10):1023-33. Epub 2009 Jun 16

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

PublicacionesPor SEGCD Junio 1, 2009

Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. BMC Med Genet. 2009 Jun 2;10:48. Review

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

PublicacionesPor SEGCD Mayo 1, 2009

Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group, Zamora I, López-Hellin J,…

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

PublicacionesPor SEGCD Mayo 1, 2009

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG. Neuromuscul Disord. 2009 Jun;19(6):418-22. Epub 2009 May

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation

PublicacionesPor SEGCD Mayo 1, 2009

Martínez-Hernández R, Soler-Botija C, Also E, Alias L, Caselles L, Gich I, Bernal S, Tizzano EF. J Neuropathol Exp Neurol. 2009 May;68(5):474-81

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome

PublicacionesPor SEGCD Mayo 1, 2009

Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Am J Med Genet A. 2009 May;149A(5):837-43.

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient

PublicacionesPor SEGCD Mayo 1, 2009

Rodríguez L, Martínez-Fernández ML, Aceña MI, López Mendoza S, Martín Fumero L, Rodríguez de Alba M, Gallego-Merlo J, Martínez-Frías ML. Am J Med Genet A. 2009 May;149A(5):1058-61.