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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.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

PublicacionesPor SEGCD Abril 1, 2009

Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P. Placenta. 2009 Jun;30(6):551-4. Epub 2009 Apr 21

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

PublicacionesPor SEGCD Marzo 1, 2009

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Hum Mutat. 2009 Mar;30(3):454-62

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

PublicacionesPor SEGCD Marzo 1, 2009

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Hum Mutat. 2009 Mar;30(3):E520-9

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models

PublicacionesPor SEGCD Marzo 1, 2009

Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI.Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

PublicacionesPor SEGCD Marzo 1, 2009

Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Am J Med Genet A. 2009 Mar;149A(3):343-8