Výsledky vyhledávání - "Antiñolo Guillermo"

Akademický článek

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

Autor: Fernández Raquel Ma, Bleda Marta, Núñez-Torres Rocío, Medina Ignacio, Luzón-Toro Berta, García-Alonso Luz, Torroglosa Ana, Marbà Martina, Enguix-Riego Ma Valle, Montaner David, Antiñolo Guillermo, Dopazo Joaquín, Borrego Salud

Publikováno v: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 103 (2012)

Abstract Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for

Externí odkaz: https://doaj.org/article/d840fcdeae1f4bfab9b968bd22187a6c

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Akademický článek

Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

Autor: García-Díaz Lutgardo, Carreto Práxedes, Costa-Pereira Susana, Antiñolo Guillermo

Publikováno v: BMC Pregnancy and Childbirth, Vol 12, Iss 1, p 72 (2012)

Abstract Background Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation We report a case of giant chorioangioma with fetal hydrops, additionally complicated b

Externí odkaz: https://doaj.org/article/19306da30e27420c9eca647228a292c7

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Akademický článek

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Autor: Castaño Luis, Carlos de Agustín Juan, Marbá Martina, Enguix-Riego Maria del Valle, Acosta Manuel, Fernández Raquel M, Núñez-Torres Rocio, Antiñolo Guillermo, Borrego Salud

Publikováno v: BMC Medical Genetics, Vol 12, Iss 1, p 138 (2011)

Abstract Background RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have p

Externí odkaz: https://doaj.org/article/455ff56db5a0428aad8794bb27be7346

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Akademický článek

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Autor: Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 137 (2010)

Abstract Background Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately

Externí odkaz: https://doaj.org/article/b51817bd2cf947798869227b919d174b

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Akademický článek

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

Autor: Antiñolo Guillermo, Fernández Raquel M, Núñez-Torres Rocio, Sánchez-Mejías Avencia, Borrego Salud

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 71 (2010)

Abstract Background Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations in severa

Externí odkaz: https://doaj.org/article/7e33c795aeed455abe95c81b071aab94

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Akademický článek

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

Autor: Antiñolo Guillermo, López-Alonso Manuel, Fernández Raquel M, Núñez-Torres Rocío, Borrego Salud

Publikováno v: BMC Medical Genetics, Vol 10, Iss 1, p 119 (2009)

Abstract Background Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, main

Externí odkaz: https://doaj.org/article/7921c856aac249219f86e26c213c7389

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Akademický článek

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

Autor: Antiñolo Guillermo, Ayuso Carmen, García-Sandoval Blanca, Maseras Miquel, Martínez-Gimeno María, Hernan Imma, Gamundi María, Baiget Montserrat, Carballo Miguel

Publikováno v: BMC Medical Genetics, Vol 7, Iss 1, p 35 (2006)

Abstract Background Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-spe

Externí odkaz: https://doaj.org/article/0942d952335847d1bef02909f91b0b23

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