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    1. Bykhovskaya, Y; Yang, HY; Taylor, K; Hang, T; Tun, RYM; Estivill, X; Casano, RAMS; Majamaa, K; Shohat, M; Fischel-Ghodsian, N
      Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

      GENETICS IN MEDICINE
    2. Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V
      Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees

      MOLECULAR GENETICS AND METABOLISM
    3. Pujana, MA; Nadal, M; Gratacos, M; Peral, B; Csiszar, K; Gonzalez-Sarmiento, R; Sumoy, L; Estivill, X
      Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

      GENOME RESEARCH
    4. Serra, E; Rosenbaum, T; Nadal, M; Winner, U; Ars, E; Estivill, X; Lazaro, C
      Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (vol 28, pg 294, 2001)

      NATURE GENETICS
    5. Serra, E; Rosenbaum, T; Nadal, M; Winner, U; Ars, E; Estivill, X; Lazaro, C
      Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

      NATURE GENETICS
    6. Carim-Todd, L; Sumoy, L; Andreu, N; Estivill, X; Escarceller, M
      Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein YmL30 gene

      DNA SEQUENCE
    7. Carim-Todd, L; Sumoy, L; Andreu, N; Estivill, X; Escarceller, M
      Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24

      DNA SEQUENCE
    8. 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
      CFTR and asthma in the French EGEA study

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Lopez-Bigas, N; Rabionet, R; Arbones, ML; Estivill, X
      R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. 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
      Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

      HUMAN MOLECULAR GENETICS
    11. 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
      Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

      HUMAN MOLECULAR GENETICS
    12. Altafaj, X; Dierssen, M; Baamonde, C; Marti, E; Visa, J; Guimera, J; Oset, M; Gonzalez, JR; Florez, J; Fillat, C; Estivill, X
      Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome

      HUMAN MOLECULAR GENETICS
    13. Benedit, P; Paciucci, R; Thomson, TM; Valeri, M; Nadal, M; Caceres, C; de Torres, I; Estivill, X; Lozano, JJ; Morote, J; Reventos, J
      PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks

      ONCOGENE
    14. Mallolas, J; Vilaseca, MA; Pavia, C; Lambruschini, N; Cambra, FJ; Campistol, J; Gomez, D; Carrio, A; Estivill, X; Mila, M
      Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

      JOURNAL OF MOLECULAR MEDICINE-JMM
    15. Casas, C; Martinez, S; Pritchard, MA; Fuentes, JJ; Nadal, M; Guimera, J; Arbones, M; Florez, J; Soriano, E; Estivill, X; Alcantara, S
      Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressedin the primitive ventricle of the heart and during neurogenesis

      MECHANISMS OF DEVELOPMENT
    16. Andreu, N; Escarceller, M; Feather, S; Devriendt, K; Wolf, AS; Estivill, X; Sumoy, L
      PALML, a novel paralemmin-related gene mapping on human chromosome 1p21

      GENE
    17. Sumoy, L; Pluvinet, R; Andreu, N; Estivill, X; Escarceller, M
      PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family

      GENE
    18. Carim-Todd, L; Sumoy, L; Andreu, N; Estivill, X; Escarceller, M
      Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24

      GENE
    19. Serra, E; Ars, E; Ravella, A; Sanchez, A; Puig, S; Rosenbaum, T; Estivill, X; Lazaro, C
      Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

      HUMAN GENETICS
    20. Lazo, PA; Nadal, M; Ferrer, M; Area, E; Hernandez-Torres, J; Nabokina, SM; Mollinedo, F; Estivill, X
      Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

      HUMAN GENETICS
    21. Dierssen, M; Marti, E; Pucharcos, C; Fotaki, V; Altafaj, X; Casas, K; Solans, A; Arbones, ML; Fillat, C; Estivill, X
      Functional genomics of Down syndrome: a multidisciplinary approach

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    22. Pucharcos, C; Casas, C; Nadal, M; Estivill, X; de la Luna, S
      The human intersectin genes and their spliced variants are differentially expressed

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    23. Carim-Todd, L; Escarceller, M; Estivill, X; Sumoy, L
      Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    24. Carim-Todd, L; Escarceller, M; Estivill, X; Sumoy, L
      Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    25. Badenas, C; Castellvi-Bel, S; Volpini, V; Jimenez, D; Sanchez, A; Estivill, X; Mila, M
      Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Fillat, C; Espanol, T; Oset, M; Ferrando, M; Estivill, X; Volpini, V
      Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Gratacos, M; Nadal, M; Martin-Santos, R; Pujana, MA; Gago, J; Peral, B; Armengol, L; Ponsa, I; Miro, R; Bulbena, A; Estivill, X
      A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders

      CELL
    28. Dierssen, M; Fillat, C; Crnic, L; Arbones, M; Florez, J; Estivill, X
      Murine models for Down syndrome

      PHYSIOLOGY & BEHAVIOR
    29. de Cid, R; Volpini, V; Almasy, L; Otero, D; Estivill, X; Lazaro, C
      Analysis of the susceptibility regions to psoriasis in Spanish population:evidence of a major gene involved in psoriasis in 6p21

      MEDICINA CLINICA
    30. Amaral, MD; Pacheco, P; Beck, S; Farinha, CM; Penque, D; Nogueira, P; Barreto, C; Lopes, B; Casals, T; Dapena, J; Gartner, S; Vasquez, C; Perez-Frias, J; Olveira, C; Cabanas, R; Estivill, X; Tzetis, M; Kanavakis, E; Doudounakis, S; Dork, T; Tummler, B; Girodon-Boulandet, E; Cazeneuve, C; Goossens, M; Blayau, M; Verlingue, C; Vieira, I; Ferec, C; Claustres, M; des Georges, M; Clavel, C; Birembaut, P; Hubert, D; Bienvenu, T; Adoun, M; Chomel, JC; De Boeck, K; Cuppens, H; Lavinha, J
      Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study

      JOURNAL OF MEDICAL GENETICS
    31. Nadal, M; Vigo, CG; Melaragno, MI; Andrade, JAD; Alonso, LG; Brunini, D; Pritchard, M; Estivill, X
      Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1 -> qter duplication

      JOURNAL OF MEDICAL GENETICS
    32. Carrio, M; Mazo, A; Lopez-Iglesias, C; Estivill, X; Fillat, C
      Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy

      INTERNATIONAL JOURNAL OF CANCER
    33. Estivill, X; Casals, T; Malats, N; Porta, M; Guarner, L; Real, FX
      Evaluation of the role of CFTR in alcohol related pancreatic disease - Reply

      GUT
    34. Malats, N; Casals, T; Porta, M; Guarner, L; Estivill, X; Real, FX
      Cystic fibrosis transmembrane regulator (CFTR) Delta F508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer

      GUT
    35. Larriba, S; Bassas, L; Egozcue, S; Gimenez, J; Ramos, MD; Briceno, O; Estivill, X; Casals, T
      Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility

      BIOLOGY OF REPRODUCTION
    36. Melchionda, S; Ahituv, N; Bisceglia, L; Sobe, T; Glaser, F; Rabionet, R; Arbones, ML; Notarangelo, A; Di Iorio, E; Carella, M; Zelante, L; Estivill, X; Avraham, KB; Gasparini, P
      MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

      AMERICAN JOURNAL OF HUMAN GENETICS
    37. Chrast, R; Scott, HS; Papasavvas, MP; Rossier, C; Antonarakis, ES; Barras, C; Davisson, MT; Schmidt, C; Estivill, X; Dierssen, M; Pritchard, M; Antonarakis, SE
      The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

      GENOME RESEARCH
    38. Laitinen, T; Ollikainen, V; Lazaro, C; Kauppi, P; de Cid, R; Anto, JM; Estivill, X; Lokki, H; Mannila, H; Laitinen, LA; Kere, J
      Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    39. Rabionet, R; Gasparini, P; Estivill, X
      Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

      HUMAN MUTATION
    40. Espinosa-Parrilla, Y; Morell, M; Borrell, M; Souto, JC; Fontcuberta, J; Estivill, X; Sala, N
      Optimization of a simple and rapid single-strand conformation analysis fordetection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

      HUMAN MUTATION
    41. Escarceller, M; Pluvinet, R; Sumoy, L; Estivill, X
      Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene

      DNA SEQUENCE
    42. Gasparini, P; Rabionet, R; Barbujani, G; Melchionda, S; Petersen, M; Brondum-Nielsen, K; Metspalu, A; Oitmaa, E; Pisano, M; Fortina, P; Zelante, L; Estivill, X
      High carrier frequency of the 35delG deafness mutation in European populations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    43. Dequeker, E; Cuppens, H; Dodge, J; Estivill, X; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ
      Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    44. Serra, E; Rosenbaum, T; Winner, U; Aledo, R; Ars, E; Estivill, X; Lenard, HG; Lazaro, C
      Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

      HUMAN MOLECULAR GENETICS
    45. Ars, E; Serra, E; Garcia, J; Kruyer, H; Gaona, A; Lazaro, C; Estivill, X
      Mutations affecting mRNA splicing are the most common molecular defects inpatients with neurofibromatosis type 1

      HUMAN MOLECULAR GENETICS
    46. Fuentes, JJ; Genesca, L; Kingsbury, TJ; Cunningham, KW; Perez-Riba, M; Estivill, X; de la Luna, S
      DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

      HUMAN MOLECULAR GENETICS
    47. Puig, S; Castro, J; Ventura, PJ; Ruiz, A; Ascaso, C; Melvehy, J; Estivill, X; Mascaro, JM; Lecha, M; Castel, T
      Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases

      MELANOMA RESEARCH
    48. Mila, M; Castellvi-Bel, S; Sanchez, A; Barcelo, A; Badenas, C; Mallolas, J; Estivill, X
      Rare variants in the promoter of the fragile X syndrome gene (FMR1)

      MOLECULAR AND CELLULAR PROBES
    49. Soriano, JB; de Cid, R; Estivill, X; Anto, JM; Sunyer, J; Otero, D; Roca, J; Rodriguez-Roisin, R; Morell, F; Rodrigo, MJ; Ercilla, G; Beaty, TH; Lazaro, C
      Association study of proposed candidate genes/regions in a population of Spanish asthmatics

      EUROPEAN JOURNAL OF EPIDEMIOLOGY
    50. Dork, T; Macek, M; Mekus, F; Tummler, B; Tzountzouris, J; Casals, T; Krebsova, A; Koudova, M; Sakmaryova, I; Macek, M; Vavrova, V; Zemkova, D; Ginter, E; Petrova, NV; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zekanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, HH; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadasi, L; Ravnik-Glavac, M; Glavac, D; Komel, R; Vouk, K; Kucinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, GD; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, ZQ; Friedman, KJ; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Ferec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, PF; Sangiuolo, F; Jordanova, A; Kusic, J; Radojkovic, D; Sertic, J; Richter, D; Rukavina, AS; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, LC; Zielenski, J
      Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

      HUMAN GENETICS
    51. Bombieri, C; Giorgi, S; Carles, S; de Cid, R; Belpinati, F; Tandoi, C; Pallares-Ruiz, N; Lazaro, C; Ciminelli, BM; Romey, MC; Casals, T; Pompei, F; Gandini, G; Claustres, M; Estivill, X; Pignatti, PF; Modiano, G
      A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

      HUMAN GENETICS
    52. Rabionet, R; Zelante, L; Lopez-Bigas, N; D'Agruma, L; Melchionda, S; Restagno, G; Arbones, ML; Gasparini, P; Estivill, X
      Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene

      HUMAN GENETICS
    53. Espinosa-Parrilla, Y; Navarro, G; Morell, M; Abella, E; Estivill, X; Sala, N
      Homozygosity for the protein S Heerlen allele is associated with type IPS deficiency in a thrombophilic pedigree with multiple risk factors

      THROMBOSIS AND HAEMOSTASIS
    54. Ars, E; Serra, E; de la Luna, S; Estivill, X; Lazaro, C
      Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

      NUCLEIC ACIDS RESEARCH
    55. Carim-Todd, L; Escarceller, M; Estivill, X; Sumoy, L
      Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes be tween human chromosomes 15q24 -> q26 and 19p13.3 -> p12

      CYTOGENETICS AND CELL GENETICS
    56. Solans, A; Estivill, X; de la Luna, S
      A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase

      CYTOGENETICS AND CELL GENETICS
    57. Carim, L; Sumoy, L; Andreu, N; Estivill, X; Escarceller, M
      Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vbs33b

      CYTOGENETICS AND CELL GENETICS
    58. Carim, L; Sumoy, L; Andreu, N; Estivill, X; Escarceller, M
      Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1 -> q21.2

      CYTOGENETICS AND CELL GENETICS
    59. Solans, A; Estivill, X; de la Luna, S
      Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency

      CYTOGENETICS AND CELL GENETICS
    60. Sumoy, L; Carim, L; Escarceller, M; Nadal, M; Gratacos, M; Pujana, MA; Estivill, X; Peral, B
      HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression

      CYTOGENETICS AND CELL GENETICS
    61. Casals, T; Bassas, L; Egozcue, S; Ramos, MD; Gimenez, J; Segura, A; Garcia, F; Carrera, M; Larriba, S; Sarquella, J; Estivill, X
      Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

      HUMAN REPRODUCTION
    62. Torra, R; Badenas, C; Perez-Oller, L; San Millan, JL; Telleria, D; Estivill, X; Darnell, A
      Mutational analysis of PKD1 and PKD2 genes (autosomal dominant polycystic disease type 1 and 2)

      NEFROLOGIA
    63. Ruiz, A; Pujana, MA; Estivill, X
      Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    64. Real, FX; Bertranpetit, J; Estivill, X
      Genes as causes: scientific fact or simplistic thinking?

      JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
    65. Nadal, M; Valiente, A; Domenech, A; Pritchard, M; Estivill, X; Ramos-Arroyo, MA
      Hereditary neuropathy with liability to pressure palsies: two cases with areciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene

      JOURNAL OF MEDICAL GENETICS
    66. Kilinc, MO; Ninis, VN; Tolun, A; Estivill, X; Casals, T; Savov, A; Dagli, E; Karakoc, F; Demirkol, M; Huner, G; Ozkinay, F; Demir, E; Seculi, JL; Pena, J; Bousono, C; Ferrer-Calvete, J; Calvo, C; Glover, G; Kremenski, I
      Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA -> G shows a severe phenotype

      JOURNAL OF MEDICAL GENETICS
    67. Pucharcos, C; Estivill, X; de la Luna, S
      Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis

      FEBS LETTERS
    68. Bykhovskaya, Y; Estivill, X; Taylor, K; Hang, T; Hamon, M; Casano, RAMS; Yang, HY; Rotter, JI; Shohat, M; Fischel-Ghodsian, N
      Candidate locus for a nuclear modifier gene for maternally inherited deafness

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Lopez-Bigas, N; Rabionet, R; Martinez, E; Bravo, O; Girons, J; Borragan, A; Pellicer, M; Arbones, ML; Estivill, X
      Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26)gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    70. Gasparini, P; Estivill, X; Fortina, P
      Vestibular and hearing loss in genetic and metabolic disorders

      CURRENT OPINION IN NEUROLOGY
    71. Wang, SY; Cruts, M; Del-Favero, J; Zhang, Y; Tissir, F; Potier, MC; Patterson, D; Nizetic, D; Bosch, A; Chen, HM; Bennett, L; Estivill, X; Kessling, A; Antonarakis, SE; van Broeckhoven, C
      A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

      GENOME RESEARCH
    72. Grifa, A; Wagner, CA; D'Ambrosio, L; Melchionda, S; Bernardi, F; Lopez-Bigas, N; Rabionet, R; Arbones, M; Della Monica, M; Estivill, X; Zelante, L; Lang, F; Gasparini, P
      Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

      NATURE GENETICS
    73. Feliubadalo, L; Font, M; Purroy, J; Rousaud, F; Estivill, X; Nunes, V; Golomb, E; Centola, M; Aksentijevich, I; Kreiss, Y; Goldman, B; Pras, M; Kastner, DL; Pras, E; Gasparini, P; Bisceglia, L; Beccia, E; Gallucci, M; de Sanctis, L; Ponzone, A; Rizzoni, GF; Zelante, L; Bassi, MT; George, AL; Manzoni, M; De Grandi, A; Riboni, M; Endsley, JK; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Estevez, R; Pineda, M; Torrents, D; Camps, M; Lloberas, J; Zorzano, A; Palacin, M
      Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

      NATURE GENETICS
    74. Zielenski, J; Corey, M; Rozmahel, R; Markiewicz, D; Aznarez, I; Casals, T; Larriba, S; Mercier, B; Cutting, GR; Krebsova, A; Macek, M; Langfelder-Schwind, E; Marshall, BC; DeCelie-Germana, J; Claustres, M; Palacio, A; Bal, J; Nowakowska, A; Ferec, C; Estivill, X; Durie, P; Tsui, LC
      Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

      NATURE GENETICS
    75. Lazaro, C; de Cid, R; Sunyer, J; Soriano, J; Gimenez, J; Alvarez, M; Casals, T; Anto, JM; Estivill, X
      Missense mutations in the cystic fibrosis gene in adult patients with asthma

      HUMAN MUTATION
    76. Lopez-Bigas, N; Rabionet, R; de Cid, R; Govea, N; Gasparini, P; Zelante, L; Arbones, ML; Estivill, X
      Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

      HUMAN MUTATION
    77. Correa, CL; Brems, H; Lazaro, C; Estivill, X; Clementi, M; Mason, S; Rutkowski, JL; Marynen, P; Legius, E
      Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

      HUMAN MUTATION
    78. Espinosa-Parrilla, Y; Morell, M; Souto, JC; Tirado, I; Fontcuberta, J; Estivill, X; Sala, N
      Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type IIIPS deficiency

      HUMAN MUTATION
    79. Pucharcos, C; Fuentes, JJ; Casas, C; de la Luna, S; Alcantara, S; Arbones, ML; Soriano, E; Estivill, X; Pritchard, M
      Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    80. Feliubadalo, L; Bisceglia, L; Font, M; Dello Strologo, L; Beccia, E; Arslan-Kirchner, M; Steinmann, B; Zelante, L; Estivill, X; Zorzano, A; Palacin, M; Gasparini, P; Nunes, V
      Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1

      GENOMICS
    81. Guimera, J; Casas, C; Estivill, X; Pritchard, M
      Human minibrain homologue (MNBH/DYRK1): Characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome

      GENOMICS
    82. Manzano, A; Perez, JX; Nadal, M; Estivill, X; Lange, A; Bartrons, R
      Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene

      GENE
    83. Mallolas, J; Vilaseca, MA; Campistol, J; Lambruschini, N; Cambra, FJ; Estivill, X; Mila, M
      Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

      HUMAN GENETICS
    84. Pujana, MA; Corral, J; Gratacos, M; Combarros, O; Berciano, J; Genis, D; Banchs, I; Estivill, X; Volpini, V
      Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases (vol 104, pg 516, 1999)

      HUMAN GENETICS
    85. Pujana, MA; Corral, J; Gratacos, M; Combarros, O; Berciano, J; Genis, D; Banchs, I; Estivill, X; Volpini, V
      Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

      HUMAN GENETICS
    86. Fuentes, JJ; Dierssen, M; Pucharcos, C; Fillat, C; Casas, C; Estivill, X; Pritchard, M
      Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    87. Cruz, C; Nadal, M; Ventura, F; Bartrons, R; Estivill, X; Rosa, JL
      The human HERC3 gene maps to chromosome 4q21 by fluorescence in situ hybridization

      CYTOGENETICS AND CELL GENETICS
    88. Carim, L; Sumoy, L; Nadal, M; Estivill, X; Escarceller, M
      Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52

      CYTOGENETICS AND CELL GENETICS
    89. Ars, E; Kruyer, H; Gaona, A; Serra, E; Lazaro, C; Estivill, X
      Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

      PRENATAL DIAGNOSIS
    90. Martorell, L; Pujana, MA; Valero, J; Joven, J; Volpini, V; Labad, A; Estivill, X; Vilella, E
      Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    91. Castellvi-Bel, S; Sanchez, A; Badenas, C; Mallolas, J; Barcelo, A; Jimenez, D; Villa, M; Estivill, X; Mila, M
      Single-strand conformation polymorphism analysis in the FMR1 gene

      AMERICAN JOURNAL OF MEDICAL GENETICS
    92. Badenas, C; Torra, R; San Millan, JL; Lucero, L; Mila, M; Estivill, X; Darnell, A
      Mutational analysis within the 3 ' region of the PKD1 gene

      KIDNEY INTERNATIONAL
    93. Aran, JM; Fillat, C; Estivill, X
      Genetic engineering approaches for organ transplantation

      TRANSPLANTATION PROCEEDINGS
    94. Fillat, C; Aran, JM; Estivill, X
      Tools of gene transfer in organ transplantation

      TRANSPLANTATION PROCEEDINGS
    95. Mila, M; Carrio, A; Sanchez, A; Gomez, D; Jimenez, D; Estivill, X; Ballesta, F
      Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome

      MEDICINA CLINICA
    96. Zaera, MG; Barrientos, A; Arias, L; Rojas, I; Arruga, J; Estivill, X; Casademont, J; Nunes, V
      Leber's hereditary optic neuropathy mutations in 31 Spanish individuals affected by optic atrophy; segregation studies in 5 families

      MEDICINA CLINICA
    97. Ruiz, A; Puig, S; Malvehy, J; Lazaro, C; Lynch, M; Gimenez-Arnau, AM; Puig, L; Sanchez-Conejo, J; Estivill, X; Tel, TC
      CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia

      JOURNAL OF MEDICAL GENETICS
    98. Rabionet, R; Estivill, X
      Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene

      JOURNAL OF MEDICAL GENETICS
    99. Antoniadi, T; Rabionet, R; Kroupis, C; Aperis, GA; Economides, J; Petmezakis, J; Economou-Petersen, E; Estivill, X; Petersen, MB
      High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

      CLINICAL GENETICS
    100. Leder, S; Weber, Y; Altafaj, X; Estivill, X; Joost, HG; Becker, W
      Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 04:50:00