AAAAAA
Results: 1-25/26
Authors:
Miano, MG
Testa, F
Filippini, F
Trujillo, M
Conte, I
Lanzara, C
Millan, JM
De Bernardo, C
Grammatico, B
Mangino, M
Torrente, I
Carrozzo, R
Simonelli, F
Rinaldi, E
Ventruto, V
D'Urso, M
Ayuso, C
Ciccodicola, A
Citation: Mg. Miano et al., Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains, HUM MUTAT, 18(2), 2001, pp. 109-119
Authors:
Lorda-Sanchez, I
Tejedor, C
Sanz, R
De Alba, MR
De la Fuente, A
Fernandez, E
Ayuso, C
Ramos, C
Citation: I. Lorda-sanchez et al., A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers, GEN COUNSEL, 12(1), 2001, pp. 95-100
Authors:
Sanz, R
Lorda-Sanchez, I
Fernandez-Moya, JM
Cifuentes-Sulzberger, S
de Alba, MR
Gonzalez-Gonzalez, MC
Ibanez, MA
Robledo, M
Ayuso, C
Ramos, C
Citation: R. Sanz et al., Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations, FETAL DIAGN, 16(2), 2001, pp. 95-97
Authors:
de Alba, MR
Palomino, P
Gonzalez-Gonzalez, C
Lorda-Sanchez, I
Ibanez, MA
Sanz, R
Fernandez-Moya, JM
Ayuso, C
Diaz-Recasens, J
Ramos, C
Citation: Mr. De Alba et al., Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters, PRENAT DIAG, 21(3), 2001, pp. 165-170
Authors:
Semonin, O
Fontaine, K
Daviaud, C
Ayuso, C
Lucotte, G
Citation: O. Semonin et al., Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva, AM J MED G, 102(4), 2001, pp. 314-317
Authors:
Marcos, I
Ruiz, A
Borrego, S
Ayuso, C
Baiget, M
Antinolo, G
Citation: I. Marcos et al., Molecular analysis of the RPE65 gene in 72 Spanish families with autosomalrecessive retinitis pigmentosa, MED CLIN, 117(4), 2001, pp. 121-123
Authors:
Lorda-Sanchez, I
Garcia-Ruiz, PJ
De Alba, MR
Montoya, J
Playan, A
Sarasa, JL
Trujillo, MJ
Sanz, R
Ramos, C
Ayuso, C
Citation: I. Lorda-sanchez et al., A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient, GEN COUNSEL, 11(3), 2000, pp. 261-265
Authors:
Fernandez-Moya, JM
Sanz, R
de Alba, MR
Ibanez, MA
Ayuso, C
Diaz-Recasens, J
Robledo, M
Ramos, C
Citation: Jm. Fernandez-moya et al., Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosedin the second trimester, FETAL DIAGN, 15(2), 2000, pp. 97-101
Authors:
Sanz, R
del Arco, A
Ayuso, C
Ramos, C
Satrustegui, J
Citation: R. Sanz et al., Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridiration, CYTOG C GEN, 89(3-4), 2000, pp. 143-144
Authors:
Llovet, JM
Sala, M
Castells, L
Suarez, Y
Vilana, R
Bianchi, L
Ayuso, C
Vargas, V
Rodes, J
Bruix, J
Citation: Jm. Llovet et al., Randomized controlled trial of interferon treatment for advanced hepatocellular carcinoma, HEPATOLOGY, 31(1), 2000, pp. 54-58
Authors:
Sanz, R
Anabitarte, MA
Querejeta, ME
Lorda-Sanchez, I
Ibanez, MA
de Alba, MR
Ayuso, C
Ramos, C
Citation: R. Sanz et al., Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid, PRENAT DIAG, 20(1), 2000, pp. 63-65
Authors:
Lorda-Sanchez, I
Lopez-Pajares, I
Roche, MC
Sanz, R
de Alba, MR
Gonzalez-Gonzalez, MC
Ibanez, A
Ramos, C
Ayuso, C
Citation: I. Lorda-sanchez et al., Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child, AM J MED G, 95(4), 2000, pp. 336-338
Authors:
Lorda-Sanchez, I
Ayuso, C
Ibanez, A
Citation: I. Lorda-sanchez et al., Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome, AM J MED G, 90(1), 2000, pp. 80-81
Authors:
Paloma, E
Hjelmqvist, L
Bayes, M
Garcia-Sandoval, B
Ayuso, C
Balcells, S
Gonzalez-Duarte, R
Citation: E. Paloma et al., Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa, INV OPHTH V, 41(3), 2000, pp. 656-659
Authors:
Gimeno, MM
Trujillo, MJ
Sandoval, BG
del Rio, T
Maseras, M
Ayuso, C
Carballo, M
Citation: Mm. Gimeno et al., Asp-190-Tyr mutation in the rodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis, MED CLIN, 115(18), 2000, pp. 699-703
Authors:
Astuto, LM
Weston, MD
Carney, CA
Hoover, DM
Cremers, CWRJ
Wagenaar, M
Moller, C
Smith, RJH
Pieke-Dahl, S
Greenberg, J
Ramesar, R
Jacobson, SG
Ayuso, C
Heckenlively, JR
Tamayo, M
Gorin, MB
Reardon, W
Kimerling, WJ
Citation: Lm. Astuto et al., Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I, AM J HU GEN, 67(6), 2000, pp. 1569-1574
Authors:
Miano, MG
Testa, F
Strazzullo, M
Trujillo, M
De Bernardo, C
Grammatico, B
Simonelli, F
Mangino, M
Torrente, I
Ruberto, G
Beneyto, M
Antinolo, G
Rinaldi, E
Danesino, C
Ventruto, V
D'Urso, M
Ayuso, C
Baiget, M
Ciccodicola, A
Citation: Mg. Miano et al., Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa, EUR J HUM G, 7(6), 1999, pp. 687-694
Authors:
Ayuso, JR
Garcia-Criado, A
Caralt, TM
Ayuso, C
Torras, A
Ribalta, T
Citation: Jr. Ayuso et al., Atypical retroperitoneal fibrosis: MRI findings, EUR RADIOL, 9(5), 1999, pp. 937-939
Authors:
Gallardo, ME
Lopez-Rios, J
Fernaud-Espinosa, I
Granadino, B
Sanz, R
Ramos, C
Ayuso, C
Seller, MJ
Brunner, HG
Bovolenta, P
de Cordoba, SR
Citation: Me. Gallardo et al., Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygositywith bilateral anophthalmia and pituitary anomalies, GENOMICS, 61(1), 1999, pp. 82-91
Authors:
Granadino, B
Gallardo, ME
Lopez-Rios, J
Sanz, R
Ramos, C
Ayuso, C
Bovolenta, P
de Cordoba, SR
Citation: B. Granadino et al., Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene, GENOMICS, 55(1), 1999, pp. 100-105
Authors:
de Caralt, TM
Ayuso, JR
Ayuso, C
Schorlemmer, WC
Citation: Tm. De Caralt et al., Distortion of subcapsular hepatic hemangioma by hepatic cirrhosis, CAN ASSOC R, 50(2), 1999, pp. 137-138
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
Authors:
de Alba, MR
Sanz, R
Lorda-Sanchez, I
Fernandez-Moya, JM
Ayuso, C
Diaz-Recasens, J
Ramos, C
Citation: Mr. De Alba et al., Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation, PRENAT DIAG, 19(9), 1999, pp. 884-886
Authors:
de Alba, MR
Palomino, P
Jurado, A
Sanz, R
Ibanez, MA
Fernandez-Moya, JM
Ayuso, C
Diaz-Recasens, J
Lahoz, C
Ramos, C
Citation: Mr. De Alba et al., Prenatal diagnosis on fetal cells obtained from maternal peripheral blood:Report of 66 cases, PRENAT DIAG, 19(10), 1999, pp. 934-940
Authors:
Satre, V
Monnier, N
Berthoin, F
Ayuso, C
Joannard, A
Jouk, PS
Lopez-Pajares, I
Megabarne, A
Philippe, HJ
Plauchu, H
Torres, ML
Lunardi, J
Citation: V. Satre et al., Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene, AM J HU GEN, 65(1), 1999, pp. 68-76
Authors:
Cuevas, JM
Espinos, C
Millan, JM
Sanchez, F
Trujillo, MJ
Garcia-Sandoval, B
Ayuso, C
Najera, C
Beneyto, M
Citation: Jm. Cuevas et al., Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib, MOL CELL PR, 12(6), 1998, pp. 417-420