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51

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

Xavier Estivill, Consol Bancells, Cristina Ramos

Journal:

Year:

1997

Language:

english

File:

PDF, 1.31 MB

english, 1997

52

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Antoni Barrientos, Jordi Casademont, David Genís, Francesc Cardellach, José Manuel Fernández-Real, José María Grau, Alvaro Urbano-Márquez, Xavier Estivill, Virginia Nunes

Journal:

Year:

1997

Language:

english

File:

PDF, 166 KB

english, 1997

53

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations

Lourdes Martorell, Miguel Angel Pujana, Victor Volpini, Aurora Sanchez, Jorge Joven, Elisabet Vilella, Xavier Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 138 KB

english, 1997

54

Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria

Judith Mallolas, Jaume Campistol, Nilo Lambruschini, Maria Antònia Vilaseca, F. José Cambra, Xavier Estivill, Montserrat Milà

Journal:

Year:

1998

Language:

english

File:

PDF, 88 KB

english, 1998

55

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

Yolanda Espinosa-Parrilla, Marta Morell, Joan Carles Souto, Isabel Tirado, Jordi Fontcuberta, Xavier Estivill, Núria Sala

Journal:

Year:

1999

Language:

english

File:

PDF, 324 KB

english, 1999

56

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

Catalina López Correa, Hilde Brems, Conxi Lázaro, Xavier Estivill, Maurizio Clementi, Silvia Mason, J. Lynn Rutkowski, Peter Marynen, Eric Legius

Journal:

Year:

1999

Language:

english

File:

PDF, 291 KB

english, 1999

57

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

Núria López-Bigas, Raquel Rabionet, Rafael de Cid, Nancy Govea, Paolo Gasparini, Leopoldo Zelante, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

1999

Language:

english

File:

PDF, 333 KB

english, 1999

58

Missense mutations in the cystic fibrosis gene in adult patients with asthma

Conxi Lázaro, Rafael de Cid, Jordi Sunyer, Joan Soriano, Javier Giménez, Mónica Álvarez, Teresa Casals, Josep M. Antó, Xavier Estivill

Journal:

Year:

1999

Language:

english

File:

PDF, 293 KB

english, 1999

59

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

Yolanda Espinosa-Parrilla, Marta Morell, Montserrat Borrell, Joan Carles Souto, Jordi Fontcuberta, Xavier Estivill, Núria Sala

Journal:

Year:

2000

Language:

english

File:

PDF, 448 KB

english, 2000

60

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Núria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Víctor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

61

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E

Cristina Fillat, Teresa Español, Marta Oset, Mirta Cavieres, Patricia dal Borgo, Xavier Estivill, Victor Volpini

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

62

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13–q21

Celia Badenas, Sergi Castellví-Bel, Victor Volpini, Dolores Jiménez, Aurora Sánchez, Xavier Estivill, Montserrat Milà

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 115 KB

english, 2001

63

Analysis and quantification of the secretory products of the subcommissural organ by use of monoclonal antibodies

Pedro Fernández-Llebrez, Elena Miranda, Guillermo Estivill-Torrús, Manuel Cifuentes, Jesus M. Grondona, Maria D. López-ávalos, Margarita Pérez-Martín, Juan Pérez

Journal:

Microscopy Research and Technique

Year:

2001

Language:

english

File:

PDF, 477 KB

english, 2001

64

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Raquel Rabionet, Paolo Gasparini, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 449 KB

english, 2000

65

Radiation field optimization in photocatalytic monolith reactors for air treatment

Maniraj Singh, Ignasi Salvadó-Estivill, Gianluca Li Puma

Journal:

Year:

2007

Language:

english

File:

PDF, 405 KB

english, 2007

66

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

Cristina Fillat, Teresa Español, Marta Oset, Montse Ferrando, Xavier Estivill, Victor Volpini

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

67

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy

L. Rodriguez-Revenga, I. Madrigal, L.S. Alkhalidi, L. Armengol, E. González, C. Badenas, X. Estivill, M. Milà

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 171 KB

english, 2007

68

Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder

K. Domschke, G. Kuhlenbäumer, A. Schirmacher, C. Lorenzi, L. Armengol, D. DiBella, M. Gratacos, H.S. Garritsen, M.M. Nöthen, P. Franke, P. Sand, J. Fritze, G. Perez, W. Maier, W. Sibrowski, X. Estivil

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2003

Language:

english

File:

PDF, 199 KB

english, 2003

69

Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa

M. Gabrovsek, M. Brecelj-Anderluh, L. Bellodi, E. Cellini, D. Di Bella, X. Estivill, F. Fernandez-Aranda, B. Freeman, F. Geller, M. Gratacos, R. Haigh, J. Hebebrand, A. Hinney, J. Holliday, X. Hu, A.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 72 KB

english, 2004

70

Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness

Vincente Pedraza, Jose A. Gomez-Capilla, Georgia Escaramis, Carolina Gomez, Pablo Torné, Jose M. Rivera, Angel Gil, Patricia Araque, Nicolas Olea, Xavier Estivill, M. Esther Fárez-Vidal

Journal:

Year:

2010

Language:

english

File:

PDF, 360 KB

english, 2010

71

Photomodulation of the Magnetisation of Co Nanocrystals Decorated with Rhodamine B

Dr. Miguel Comesaña-Hermo, Robert Estivill, Dr. Diana Ciuculescu, Prof. Catherine Amiens, Prof. Michael Farle, Pinar Batat, Dr. Gediminas Jonusauskas, Dr. Nathan D. McClenaghan, Dr. Pierre Lecante, Dr

Journal:

Year:

2011

Language:

english

File:

PDF, 598 KB

english, 2011

72

Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: Interaction of its intracellular domain with Myt1l

Franc Llorens, Vanesa Gil, Susana Iraola, Laura Carim-Todd, Eulàlia Martí, Xavier Estivill, Eduardo Soriano, José Antonio del Rio, Lauro Sumoy

Journal:

Developmental Neurobiology

Year:

2008

Language:

english

File:

PDF, 730 KB

english, 2008

73

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas

P. Mérel, K. Hoang-Xuan, M. Sanson, A. Moreau-Aubry, E. K. Bijlsma, C. Lazaro, J. P. Moisan, F. Resche, I. Nishisho, X. Estivill, J. Y. Delattre, M. Poisson, C. Theillet, T. Hulsebos, O. Delattre, G.

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 469 KB

english, 1995

74

Maximizing association statistics over genetic models

Juan R. González, Josep L. Carrasco, Frank Dudbridge, Lluís Armengol, Xavier Estivill, Victor Moreno

Journal:

Genetic Epidemiology

Year:

2008

Language:

english

File:

PDF, 221 KB

english, 2008

75

The molecular basis of glutamate formiminotransferase deficiency

John F. Hilton, Karen E. Christensen, David Watkins, Benjamin A. Raby, Yannick Renaud, Susanna de la Luna, Xavier Estivill, Robert E. MacKenzie, Thomas J. Hudson, David S. Rosenblatt

Journal:

Year:

2003

Language:

english

File:

PDF, 213 KB

english, 2003

76

The molecular basis of glutamate formiminotransferase deficiency

John F. Hilton, Karen E. Christensen, David Watkins, Benjamin A. Raby, Yannick Renaud, Susanna de la Luna, Xavier Estivill, Robert E. MacKenzie, Thomas J. Hudson, David S. Rosenblatt

Journal:

Year:

2003

Language:

english

File:

PDF, 58 KB

english, 2003

77

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2001

Language:

english

File:

PDF, 23 KB

english, 2001

78

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

Miguel Chillón, Ana Palacio, Virginia Nunes, Teresa Casals, Javier Giménez, Xavier Estivill

Journal:

Year:

1992

Language:

english

File:

PDF, 156 KB

english, 1992

79

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

José Manuel Soria, Jordi Fontcuberta, Montserrat Borrell, Xavier Estivill, Núria Sala

Journal:

Year:

1992

Language:

english

File:

PDF, 337 KB

english, 1992

80

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

Miguel Chillón, Teresa Casals, Javier Giménez, Virginia Nunes, Xavier Estivill

Journal:

Year:

1994

Language:

english

File:

PDF, 599 KB

english, 1994

81

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

I. Banchs, A. Bosch, J. Guimerà, C. Lázaro, A. Puig, X. Estivill

Journal:

Year:

1994

Language:

english

File:

PDF, 1.00 MB

english, 1994

82

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

Teresa Casals, Maria D. Ramos, Javier Giménez, Marga Nadal, Virginia Nunes, Xavier Estivill

Journal:

Year:

1998

Language:

english

File:

PDF, 317 KB

english, 1998

83

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Dr. Roser Torra, Cèlia Badenas, Belén Peral, Alejandro Darnell, Eduard Serra, Vicki Gamble, Alberto E. Turco, Peter C. Harris, Xavier Estivill

Journal:

Year:

1998

Language:

english

File:

PDF, 431 KB

english, 1998

84

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Marie Wattenhofer, Alexandre Reymond, Véronique Falciola, Anne Charollais, Dorothée Caille, Christelle Borel, Robert Lyle, Xavier Estivill, Michael B. Petersen, Paolo Meda, Stylianos E. Antonarakis

Journal:

Year:

2005

Language:

english

File:

PDF, 416 KB

english, 2005

85

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness

Juan R. González, Wenyi Wang, Ester Ballana, Xavier Estivill

Journal:

Year:

2006

Language:

english

File:

PDF, 204 KB

english, 2006

86

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

Margarita Muiños-Gimeno, Monica Guidi, Birgit Kagerbauer, Rocío Martín-Santos, Ricard Navinés, Pino Alonso, José M. Menchón, Mònica Gratacòs, Xavier Estivill, Yolanda Espinosa-Parrilla

Journal:

Year:

2009

Language:

english

File:

PDF, 334 KB

english, 2009

87

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

Núria López-Bigas, Salvatore Melchionda, Paolo Gasparini, Alfonso Borragán, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2002

Language:

english

File:

PDF, 402 KB

english, 2002

88

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

89

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

Meritxell Carrió, Adela Mazo, Carmen López-Iglesias, Xavier Estivill, Cristina Fillat

Journal:

International Journal of Cancer

Year:

2001

Language:

english

File:

PDF, 394 KB

english, 2001

90

Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system

Meritxell Carrió, Joana Visa, Anna Cascante, Xavier Estivill, Cristina Fillat

Journal:

The Journal of Gene Medicine

Year:

2002

Language:

english

File:

PDF, 198 KB

english, 2002

91

Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells

David de Semir, Jordi Petriz, Anna Avinyó, Sara Larriba, Virginia Nunes, Teresa Casals, Xavier Estivill, Josep M. Aran

Journal:

The Journal of Gene Medicine

Year:

2002

Language:

english

File:

PDF, 602 KB

english, 2002

92

Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells

David de Semir, Marga Nadal, Juan R. González, Sara Larriba, Anna Avinyó, Virginia Nunes, Teresa Casals, Xavier Estivill, Josep M. Aran

Journal:

The Journal of Gene Medicine

Year:

2003

Language:

english

File:

PDF, 494 KB

english, 2003

93

Simultaneous On-line DNA Sequencing on Both Strands with Two Fluorescent Dyes

S. Wiemann, J. Stegemann, D. Grothues, A. Bosch, X. Estivill, C. Schwager, J. Zimmermann, H. Voss, W. Ansorge

Journal:

Analytical Biochemistry

Year:

1995

File:

PDF, 486 KB

1995

94

Right invariant metrics and measures of presortedness

Vladimir Estivill-Castro, Heikki Mannila, Derick Wood

Journal:

Discrete Applied Mathematics

Year:

1993

Language:

english

File:

PDF, 1011 KB

english, 1993

95

Feature extraction and gating techniques for ultrasonic shaft signal classification

Kyungmi Lee, Vladimir Estivill-Castro

Journal:

Applied Soft Computing

Year:

2007

Language:

english

File:

PDF, 868 KB

english, 2007

96

Clustering with obstacles for Geographical Data Mining

Vladimir Estivill-Castro, Ickjai Lee

Journal:

ISPRS Journal of Photogrammetry and Remote Sensing

Year:

2004

Language:

english

File:

PDF, 381 KB

english, 2004

97

A sensitive method to analyse the effect of putative regulatory ligands on the release of glycoprotein from primary cultures of dispersed bovine subcommissural organ cells

F.J. Bermúdez-Silva, J. Pérez, M. Cifuentes, M. Pérez-Martín, J.M. Grondona, M.D. López-Ávalos, G. Estivill-Torrús, P. Fernández-Llebrez

Journal:

Journal of Neuroscience Methods

Year:

2010

Language:

english

File:

PDF, 394 KB

english, 2010

98

Microsatellite instability may involve the pentanucleotide repeat of the PIG3 promoter in bcr/abl acute lymphoblastic leukemia

Josep F. Nomdedéu, Granada Perea, Camino Estivill, Isabel Badell, Adriana Lasa, Anna Aventín

Journal:

Leukemia Research

Year:

2008

Language:

english

File:

PDF, 283 KB

english, 2008

99

WT1 monitoring in core binding factor AML: Comparison with specific chimeric products

Adriana Lasa, Maite Carricondo, Camino Estivill, Elena Bussaglia, Ignasi Gich, Salut Brunet, Anna Aventin, Jorge Sierra, Josep F. Nomdedéu

Journal:

Leukemia Research

Year:

2009

Language:

english

File:

PDF, 695 KB

english, 2009

100

Immunophenotype of acute myeloid leukemia with NPM mutations: Prognostic impact of the leukemic compartment size

J. Nomdedeu, E. Bussaglia, N. Villamor, C. Martinez, J. Esteve, M. Tormo, C. Estivill, M.P. Queipo, R. Guardia, M. Carricondo, M. Hoyos, A. Llorente, J. Juncà, M. Gallart, A. Domingo, J. Bargay, M. Ma

Journal:

Leukemia Research

Year:

2011

Language:

english

File:

PDF, 474 KB

english, 2011