Theo dõi
Carmen Ayuso
Carmen Ayuso
Jefe de Servicio de Genetica Hospital Universitario Fundacion Jimenez Diaz
Email được xác minh tại fjd.es
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ...
Brain 131 (2), 338-351, 2008
5912008
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
4982009
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
A Martínez Mir, E Paloma, R Allikmets, C Ayuso, T Río, M Dean, ...
Nature Publishing Group, 1998
4801998
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
JD Eudy, MD Weston, SF Yao, DM Hoover, HL Rehm, M Ma-Edmonds, ...
Science 280 (5370), 1753-1757, 1998
4731998
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ...
Neurology 78 (10), 690-695, 2012
4552012
An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly, A Gimenez-Pardo, C Ayuso
Journal of ophthalmology 2011 (1), 417217, 2011
2612011
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ...
The American Journal of Human Genetics 71 (2), 262-275, 2002
2582002
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ...
The American Journal of Human Genetics 86 (2), 240-247, 2010
2522010
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
MC Gonzalez‐Gonzalez, M Garcia‐Hoyos, MJ Trujillo, ...
Prenatal diagnosis 22 (10), 946-948, 2002
2192002
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of …
A Kennan, A Aherne, A Palfi, M Humphries, A McKee, A Stitt, ...
Human molecular genetics 11 (5), 547-558, 2002
2142002
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
CM Louie, G Caridi, VS Lopes, F Brancati, A Kispert, MA Lancaster, ...
Nature genetics 42 (2), 175-180, 2010
2112010
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
P Amati‐Bonneau, A Guichet, A Olichon, A Chevrollier, F Viala, S Miot, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
2032005
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral …
ME Gallardo, J Lopez-Rios, I Fernaud-Espinosa, B Granadino, R Sanz, ...
Genomics 61 (1), 82-91, 1999
1881999
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
M Ferré, D Bonneau, D Milea, A Chevrollier, C Verny, H Dollfus, C Ayuso, ...
Human mutation 30 (7), E692-E705, 2009
1842009
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP
K Nikopoulos, H Venselaar, RWJ Collin, R Riveiro‐Alvarez, FN Boonstra, ...
Human mutation 31 (6), 656-666, 2010
1822010
Retinitis pigmentosa and allied conditions today: a paradigm of translational research
C Ayuso, JM Millan
Genome medicine 2, 1-11, 2010
1612010
Analysis of the ABCA4 genomic locus in Stargardt disease
J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ...
Human molecular genetics 23 (25), 6797-6806, 2014
1562014
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa
G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta
The American Journal of Human Genetics 88 (5), 643-649, 2011
1482011
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process
C Ayuso, JM Millán, M Mancheno, R Dal-Ré
European Journal of Human Genetics 21 (10), 1054-1059, 2013
1462013
Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR
MC Gonzalez‐Gonzalez, MJ Trujillo, M Rodriguez de Alba, ...
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003
1462003
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