Publicaciones

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

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

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

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

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

Publicaciones

Orden según fecha de publicación:

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

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

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

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