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51

A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS)

Francesc Castro-Giner, Mariona Bustamante, Juan Ramon González, Manolis Kogevinas, Deborah Jarvis, Joachim Heinrich, Josep-Maria Antó, Matthias Wjst, Xavier Estivill, Rafael de Cid

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.12 MB

english, 2009

52

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Anna Brunet, Lluís Armengol, Damià Heine, Jordi Rosell, Manel García-Aragonés, Elisabeth Gabau, Xavier Estivill, Miriam Guitart

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.00 MB

english, 2009

53

MRPS18CP2alleles andDEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Ester Ballana, Josep Maria Mercader, Nathan Fischel-Ghodsian, Xavier Estivill

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.05 MB

english, 2007

54

Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Helena Kruyer, Merce Miranda, Victor Volpini, Xavier Estivill

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 549 KB

english, 1994

55

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Conxi Lazaro, Antonia Gaona, Anna Ravella, Victor Volpini, Dr. Xavier Estivill

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 540 KB

english, 1995

56

Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples

Sergi Castellví-Bel, Dr Montserrat Milà, Anna Soler, Ana Carrió, Aurora Sánchez, Margarita Villa, M Dolores Jiménez, Xavier Estivill

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 1.11 MB

english, 1995

57

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency

Maurizio Ferrari, Mariano Antonelli, Fiorenza Bellini, Graziella Borgo, Ornella Castiglione, Lauretta Curcio, Bruno Dallapiccola, Marcella Devoto, Xavier Estivill, Paolo Gasparini, Annamaria Giunta, L

Journal:

Year:

1990

Language:

english

File:

PDF, 447 KB

english, 1990

58

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

Miguel Chillón, Teresa Casals, Javier Giménez, M. Dolores Ramos, Ana Palacio, Nuria Morral, Xavier Estivill, Virginia Nunes

Journal:

Year:

1994

Language:

english

File:

PDF, 518 KB

english, 1994

59

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1

Xavier Estivill, Conxi Lázaro, Teresa Casals, Anna Ravella

Journal:

Year:

1991

Language:

english

File:

PDF, 421 KB

english, 1991

60

A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene

José Manuel Soria, Marta Morell, Xavier Estivill, Núria Sala

Journal:

Year:

1995

Language:

english

File:

PDF, 201 KB

english, 1995

61

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

Maria Julia Calonge, Marga Nadal, Savino Calvano, Xavier Testar, Leopoldo Zelante, Antonio Zorzano, Xavier Estivill, Paolo Gasparini, Manuel Palacín, Virginia Nunes

Journal:

Year:

1995

Language:

english

File:

PDF, 1.45 MB

english, 1995

62

Cystic fibrosis in a low-incidence population: two major mutations in Finland

Juha Kere, Xavier Estivill, Miguel Chillón, Núria Morral, Virginia Numes, Reijo Norio, Erkki Savilahti, Albert Chapelle

Journal:

Year:

1994

Language:

english

File:

PDF, 406 KB

english, 1994

63

Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21

Assumpció Bosch, Stefan Wiemann, Wilhelm Ansorge, David Patterson, Xavier Estivill

Journal:

Year:

1994

Language:

english

File:

PDF, 308 KB

english, 1994

64

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene

Conxi Lázaro, Antonia Gaona, Xavier Estivill

Journal:

Year:

1994

Language:

english

File:

PDF, 297 KB

english, 1994

65

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

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

Journal:

Year:

1993

Language:

english

File:

PDF, 344 KB

english, 1993

66

Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1

Assumpció Bosch, Jordi Guimerà, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 217 KB

english, 1995

67

Five new microsatellite polymorphisms at the q21 region of human chromosome 21

Assumpció Bosch, Stefan Wiemann, Jordi Guimerá, Wilhelm Ansorge, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 263 KB

english, 1995

68

Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3

Assumpció Bosch, Jordi Guimerà, Stefan Wiemann, Wilhelm Ansorge, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 334 KB

english, 1995

69

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

Teresa Casals, Virginia Nunes, Ana Palacio, Javier Giménez, Antonia Gaona, Núria Ibáñez, Núria Morral, Xavier Estivill

Journal:

Year:

1993

Language:

english

File:

PDF, 482 KB

english, 1993

70

Cystic fibrosis in Finland: a molecular and genealogical study

Juha Kere, Reijo Norio, Erkki Savilahti, Xavier Estivill, Albert Chapelle

Journal:

Year:

1989

Language:

english

File:

PDF, 547 KB

english, 1989

71

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

Maria Julia Calonge, Marga Nadal, Savino Calvano, Xavier Testar, Leopoldo Zelante, Antonio Zorzano, Xavier Estivill, Paolo Gasparini, Manuel Palacín, Virginia Nunes

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 113 KB

english, 1996

72

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

Conxi Lázaro, Antonia Gaona, Ganfeng Xu, Robert Weiss, Xavier Estivill

Journal:

Year:

1993

Language:

english

File:

PDF, 182 KB

english, 1993

73

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

Juan-José Fuentes, Isabel Banchs, Victor Volpini, Xavier Estivill

Journal:

International Journal of Legal Medicine

Year:

1993

Language:

english

File:

PDF, 1.04 MB

english, 1993

74

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

Philip Stanier, Xavier Estivill, Nicholas Lench, Robert Williamson

Journal:

Year:

1988

Language:

english

File:

PDF, 171 KB

english, 1988

75

Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate

Juha Kere, Erkki Savilahti, Reijo Norio, Xavier Estivill, Albert de la Chapelle

Journal:

Year:

1990

Language:

english

File:

PDF, 287 KB

english, 1990

76

Large de novo deletion in chromosome 12 affecting thePAH,IGF1,ASCL1, andTRA1genes

Judith Mallolas, M. Antònia Vilaseca, Carlos Pavia, Nilo Lambruschini, Francisco José Cambra, Jaume Campistol, David Gómez, Ana Carrió, Xavier Estivill, Montserrat Milà

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

77

Cloning of S4D-SRCRB, a new soluble member of the group

Olga Padilla, Miguel Pujana, Agustí López-de la Iglesia, Idoia Gimferrer, Mònica Arman, Josep Vilà, Lourdes Places, Jordi Vives, Xavier Estivill, Francisco Lozano

Journal:

Year:

2002

Language:

english

File:

PDF, 784 KB

english, 2002

78

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Eva Thönnissen, Raquel Rabionet, Maria Arbonès, Xavier Estivill, Klaus Willecke, Thomas Ott

Journal:

Year:

2002

Language:

english

File:

PDF, 188 KB

english, 2002

79

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p

ChristineJ. Shaw, Pawel Stankiewicz, Gabriel Bien-Willner, ScottC. Bello, ChadA. Shaw, Marta Carrera, Luis Perez Jurado, Xavier Estivill, JamesR. Lupski

Journal:

Year:

2004

Language:

english

File:

PDF, 200 KB

english, 2004

80

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization

Violaine Goidts, Lluis Armengol, Werner Schempp, Jeffrey Conroy, Norma Nowak, Stefan Müller, David N. Cooper, Xavier Estivill, Wolfgang Enard, Justyna M. Szamalek, Horst Hameister, Hildegard Kehrer-Sa

Journal:

Year:

2006

Language:

english

File:

PDF, 390 KB

english, 2006

81

Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback

Xavier Estivill

Journal:

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

82

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

Violaine Goidts, David N. Cooper, Lluis Armengol, Werner Schempp, Jeffrey Conroy, Xavier Estivill, Norma Nowak, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Year:

2006

Language:

english

File:

PDF, 605 KB

english, 2006

83

CFTRhaplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

M. Claustres, Marie Desgeorges, Philippe Moine, Núria Morral, Xavier Estivill

Journal:

Year:

1996

Language:

english

File:

PDF, 73 KB

english, 1996

84

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

M. Milà, Sergi Castellví-Bel, Ramon Giné, Carlos Vazquez, Cèlia Badenas, Aurora Sánchez, Xavier Estivill

Journal:

Year:

1996

Language:

english

File:

PDF, 109 KB

english, 1996

85

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

Luigi Bisceglia, Maria Julia Calonge, Luca Dello Strologo, Gianfranco Rizzoni, Luisa de Sanctis, Michele Gallucci, Ercole Beccia, Xavier Testar, Antonio Zorzano, Xavier Estivill, Leopoldo Zelante, Man

Journal:

Year:

1996

Language:

english

File:

PDF, 49 KB

english, 1996

86

Sex differences in mutational rate and mutational mechanism in theNF1gene in neurofibromatosis type 1 patients

C. Lázaro, Antonia Gaona, Peter Ainsworth, Romano Tenconi, Dominique Vidaud, Helena Kruyer, Elisabet Ars, Víctor Volpini, Xavier Estivill

Journal:

Year:

1996

Language:

english

File:

PDF, 41 KB

english, 1996

87

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

M. Milà, Aurora Sànchez, Cèlia Badenas, Carme Brun, Dolores Jiménez, M. Paula Villa, Sergi Castellví-Bel, Xavier Estivill

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

88

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

Miguel Angel Pujana, Jordi Corral, Mònica Gratacòs, Onofre Combarros, José Berciano, David Genís, Isabel Banchs, Xavier Estivill, Víctor Volpini, The Ataxia Study Group

Journal:

Year:

1999

Language:

english

File:

PDF, 185 KB

english, 1999

89

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the humansynaptosome-associated protein-23gene implicated in vesicle-membrane fusion processes

Pedro Lazo, Marga Nadal, Milagros Ferrer, Estela Area, Javier Hernández-Torres, Svetlana Nabokina, Faustino Mollinedo, Xavier Estivill

Journal:

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001

90

Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases

Miguel Pujana, Jordi Corral, Mònica Gratacòs, Onofre Combarros, José Berciano, David Genís, Isabel Banchs, Xavier Estivill, Víctor Volpini, The Ataxia Study Group

Journal:

Year:

1999

File:

PDF, 12 KB

1999

91

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome

Nuria Andreu, Carmen Carreras, Félix Prieto, Xavier Estivill, Victor Volpini, Cristina Fillat

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

92

Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis

Elaine S. Mansfield, Marina Vainer, Dennis W. Harris, Paolo Gasparini, Xavier Estivill, Saul Surrey, Paolo Fortina

Journal:

Journal of Chromatography A

Year:

1997

Language:

english

File:

PDF, 768 KB

english, 1997

93

LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex

Laura Carim-Todd, Mònica Escarceller, Xavier Estivill, Lauro Sumoy

Journal:

European Journal of Neuroscience

Year:

2003

Language:

english

File:

PDF, 876 KB

english, 2003

94

A patient with autistic disorder and a 20/22 chromosomal translocation

Francisco Carratalá, Francisco Galán, Manuel Moya, Xavier Estivill, Melanie A Pritchard, Roser Llevadot, Marga Nadal, Monica Gratacòs

Journal:

Developmental Medicine & Child Neurology

Year:

1998

Language:

english

File:

PDF, 408 KB

english, 1998

95

Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility

Virginia Soria, Èrika Martínez-Amorós, Geòrgia Escaramís, Joaquín Valero, José M. Crespo, Alfonso Gutiérrez-Zotes, Mònica Bayés, Lourdes Martorell, Elisabet Vilella, Xavier Estivill, José M. Menchón,

Journal:

Journal of Pineal Research

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

96

10.1038/12652

Palacín, Manuel, Feliubadaló, Lídia, Font, Mariona, Purroy, Jesús, Rousaud, Ferran, Estivill, Xavier, Nunes, Virginia, Golomb, Eliahu, Centola, Michael, Aksentijevich, Ivona, Kreiss, Yitshak, Goldman,

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 361 KB

english, 1999

97

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Estivill, Xavier, Farrall, Martin, Scambler, Peter J., Bell, Gillian M., Hawley, Kim M. F., Lench, Nicholas J., Bates, Gillian P., Kruyer, Helena C., Frederick, Patience A., Stanier, Philip

Journal:

Year:

1987

File:

PDF, 711 KB

1987

98

Cancer: When catastrophe strikes a cell

Tubio, Jose M. C., Estivill, Xavier

Journal:

Year:

2011

Language:

english

File:

PDF, 628 KB

english, 2011

99

10.1038/90170

Serra, Eduard, Rosenbaum, Thorsten, Nadal, Marga, Winner, Ursula, Ars, Elisabet, Estivill, Xavier, Lázaro, Conxi

Journal:

Nature Biotechnology

Year:

2001

Language:

english

File:

PDF, 49 KB

english, 2001

100

10.1038/90148

Serra, Eduard, Rosenbaum, Thorsten, Nadal, Marga, Winner, Ursula, Ars, Elisabet, Estivill, Xavier, Lázaro, Conxi

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 5.25 MB

english, 2001