Mayo 1, 2009

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.

Archivo diario: Mayo 1, 2009

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

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

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

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

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