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Results: 1-25/105
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
Authors: Bykhovskaya, Y Yang, HY Taylor, K Hang, T Tun, RYM Estivill, X Casano, RAMS Majamaa, K Shohat, M Fischel-Ghodsian, N
Citation: Y. Bykhovskaya et al., Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness, GENET MED, 3(3), 2001, pp. 177-180
Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees
Authors: Gomez-Zaera, M Strom, TM Rodriguez, B Estivill, X Meitinger, T Nunes, V
Citation: M. Gomez-zaera et al., Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees, MOL GEN MET, 72(1), 2001, pp. 72-81
Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
Authors: Pujana, MA Nadal, M Gratacos, M Peral, B Csiszar, K Gonzalez-Sarmiento, R Sumoy, L Estivill, X
Citation: Ma. Pujana et al., Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26, GENOME RES, 11(1), 2001, pp. 98-111
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (vol 28, pg 294, 2001)
Authors: Serra, E Rosenbaum, T Nadal, M Winner, U Ars, E Estivill, X Lazaro, C
Citation: E. Serra et al., Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (vol 28, pg 294, 2001), NAT GENET, 29(1), 2001, pp. 100-100
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas
Authors: Serra, E Rosenbaum, T Nadal, M Winner, U Ars, E Estivill, X Lazaro, C
Citation: E. Serra et al., Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas, NAT GENET, 28(3), 2001, pp. 294-296
Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein YmL30 gene
Authors: Carim-Todd, L Sumoy, L Andreu, N Estivill, X Escarceller, M
Citation: L. Carim-todd et al., Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein YmL30 gene, DNA SEQ, 12(2), 2001, pp. 91-96
Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24
Authors: Carim-Todd, L Sumoy, L Andreu, N Estivill, X Escarceller, M
Citation: L. Carim-todd et al., Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24, DNA SEQ, 12(1), 2001, pp. 67-69
CFTR and asthma in the French EGEA study
Authors: de Cid, R Chomel, JC Lazaro, C Sunyer, J Baudis, M Casals, T Le Moual, N Kitzis, A Feingold, J Anto, J Estivill, X Kauffmann, F
Citation: R. De Cid et al., CFTR and asthma in the French EGEA study, EUR J HUM G, 9(1), 2001, pp. 67-69
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
Authors: Lopez-Bigas, N Rabionet, R Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?, EUR J HUM G, 9(1), 2001, pp. 70-70
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
Authors: Lopez-Bigas, N Olive, M Rabionet, R Ben-David, O Martinez-Matos, JA Bravo, O Banchs, I Volpini, V Gasparini, P Avraham, KB Ferrer, I Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment, HUM MOL GEN, 10(9), 2001, pp. 947-952
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
Authors: Font, M Feliubadalo, L Estivill, X Nunes, V Golomb, E Kreiss, Y Pras, E Bisceglia, L d'Adamo, AP Zelante, L Gasparini, P Bassi, MT George, AL Manzoni, M Riboni, M Ballabio, A Borsani, G Reig, N Fernandez, E Zorzano, A Bertran, J Palacin, M
Citation: M. Font et al., Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria, HUM MOL GEN, 10(4), 2001, pp. 305-316
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
Authors: Altafaj, X Dierssen, M Baamonde, C Marti, E Visa, J Guimera, J Oset, M Gonzalez, JR Florez, J Fillat, C Estivill, X
Citation: X. Altafaj et al., Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome, HUM MOL GEN, 10(18), 2001, pp. 1915-1923
PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks
Authors: Benedit, P Paciucci, R Thomson, TM Valeri, M Nadal, M Caceres, C de Torres, I Estivill, X Lozano, JJ Morote, J Reventos, J
Citation: P. Benedit et al., PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks, ONCOGENE, 20(12), 2001, pp. 1455-1464
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
Authors: Mallolas, J Vilaseca, MA Pavia, C Lambruschini, N Cambra, FJ Campistol, J Gomez, D Carrio, A Estivill, X Mila, M
Citation: J. Mallolas et al., Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes, J MOL MED-J, 78(12), 2001, pp. 721-724
Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressedin the primitive ventricle of the heart and during neurogenesis
Authors: Casas, C Martinez, S Pritchard, MA Fuentes, JJ Nadal, M Guimera, J Arbones, M Florez, J Soriano, E Estivill, X Alcantara, S
Citation: C. Casas et al., Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressedin the primitive ventricle of the heart and during neurogenesis, MECH DEVEL, 101(1-2), 2001, pp. 289-292
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21
Authors: Andreu, N Escarceller, M Feather, S Devriendt, K Wolf, AS Estivill, X Sumoy, L
Citation: N. Andreu et al., PALML, a novel paralemmin-related gene mapping on human chromosome 1p21, GENE, 278(1-2), 2001, pp. 33-40
PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family
Authors: Sumoy, L Pluvinet, R Andreu, N Estivill, X Escarceller, M
Citation: L. Sumoy et al., PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family, GENE, 262(1-2), 2001, pp. 199-205
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24
Authors: Carim-Todd, L Sumoy, L Andreu, N Estivill, X Escarceller, M
Citation: L. Carim-todd et al., Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24, GENE, 262(1-2), 2001, pp. 275-281
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations
Authors: Serra, E Ars, E Ravella, A Sanchez, A Puig, S Rosenbaum, T Estivill, X Lazaro, C
Citation: E. Serra et al., Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations, HUM GENET, 108(5), 2001, pp. 416-429
Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes
Authors: Lazo, PA Nadal, M Ferrer, M Area, E Hernandez-Torres, J Nabokina, SM Mollinedo, F Estivill, X
Citation: Pa. Lazo et al., Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes, HUM GENET, 108(3), 2001, pp. 211-215
Functional genomics of Down syndrome: a multidisciplinary approach
Authors: Dierssen, M Marti, E Pucharcos, C Fotaki, V Altafaj, X Casas, K Solans, A Arbones, ML Fillat, C Estivill, X
Citation: M. Dierssen et al., Functional genomics of Down syndrome: a multidisciplinary approach, J NEUR TR-S, (61), 2001, pp. 131-148
The human intersectin genes and their spliced variants are differentially expressed
Authors: Pucharcos, C Casas, C Nadal, M Estivill, X de la Luna, S
Citation: C. Pucharcos et al., The human intersectin genes and their spliced variants are differentially expressed, BBA-GENE ST, 1521(1-3), 2001, pp. 1-11
Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31
Authors: Carim-Todd, L Escarceller, M Estivill, X Sumoy, L
Citation: L. Carim-todd et al., Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31, BBA-GENE ST, 1518(1-2), 2001, pp. 200-203
Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog
Authors: Carim-Todd, L Escarceller, M Estivill, X Sumoy, L
Citation: L. Carim-todd et al., Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog, BBA-GENE ST, 1517(2), 2001, pp. 298-301
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21
Authors: Badenas, C Castellvi-Bel, S Volpini, V Jimenez, D Sanchez, A Estivill, X Mila, M
Citation: C. Badenas et al., Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21, AM J MED G, 98(4), 2001, pp. 343-347
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