Carmen Ayuso
Carmen Ayuso
Jefe de Servicio de Genetica Hospital Universitario Fundacion Jimenez Diaz
Verified email at fjd.es
Title
Cited by
Cited by
Year
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
4502008
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
4021998
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
3791998
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
3542009
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
2742012
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
2152010
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
2072002
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
1892002
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, 2011
1782011
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
1692002
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
1681999
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
1672010
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
1632005
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
1432009
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
SA Jordan, GJ Farrar, P Kenna, MM Humphries, DM Sheils, ...
Nature genetics 4 (1), 54-58, 1993
1421993
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
1272003
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
1262010
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
1172013
C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration
E Gómez-Tortosa, J Gallego, R Guerrero-López, A Marcos, E Gil-Neciga, ...
Neurology 80 (4), 366-370, 2013
1072013
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
P Bakrania, DO Robinson, DJ Bunyan, A Salt, A Martin, JA Crolla, A Wyatt, ...
British Journal of Ophthalmology 91 (11), 1471-1476, 2007
1072007
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