Pérez-Jurado, Luis A. : rechercher sur Z-Library

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1

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC

Toma, Claudio, Hervás, Amaia, Balmaña, Noemí, Salgado, Marta, Maristany, Marta, Vilella, Elisabet, Aguilera, Francisco, Orejuela, Carmen, Cuscó, Ivon, Gallastegui, Fátima, Pérez-Jurado, Luis Alberto,

Journal:

The World Journal of Biological Psychiatry

Année:

2013

Langue:

english

Fichier:

PDF, 188 KB

english, 2013

2

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 404 KB

english, 2016

3

Provision of Genetic Services for Autism and its Impact on Spanish Families

Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara

Journal:

Journal of Autism and Developmental Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2017

4

bigSCale: an analytical framework for big-scale single-cell data

Iacono, Giovanni, Mereu, Elisabetta, Guillaumet-Adkins, Amy, Corominas, Roser, Cuscó, Ivon, Rodríguez-Esteban, Gustavo, Gut, Marta, Pérez-Jurado, Luis Alberto, Gut, Ivo, Heyn, Holger

Journal:

Genome Research

Année:

2018

Langue:

english

Fichier:

PDF, 20.39 MB

english, 2018

5

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.,

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 97 KB

english, 2018

6

scoreInvHap: Inversion genotyping for genome-wide association studies

Ruiz-Arenas, Carlos, Cáceres, Alejandro, López-Sánchez, Marcos, Tolosana, Ignacio, Pérez-Jurado, Luis, González, Juan R., Zhu, Xiaofeng

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2019

7

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

Olaya Villa, Miguel del Campo, Marta Salido, Blanca Gener, Laura Astier, Jesús del Valle, Fátima Gallastegui, Luis A. Pérez-Jurado, Francesc Solé

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 192 KB

english, 2007

8

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Gaëlle Marenne, Benjamín Rodríguez-Santiago, Montserrat García Closas, Luis Pérez-Jurado, Nathaniel Rothman, Daniel Rico, Guillermo Pita, David G. Pisano, Manolis Kogevinas, Debra T. Silverman, Alfons

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 242 KB

english, 2011

9

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

Juan R González, Benjamín Rodríguez-Santiago, Alejandro Cáceres, Roger Pique-Regi, Nathaniel Rothman, Stephen J Chanock, Lluís Armengol, Luis A Pérez-Jurado

Journal:

BMC Bioinformatics

Année:

2011

Langue:

english

Fichier:

PDF, 2.82 MB

english, 2011

10

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

Mireia Vilardell, Axel Rasche, Anja Thormann, Elisabeth Maschke-Dutz, Luis A Pérez-Jurado, Hans Lehrach, Ralf Herwig

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 3.23 MB

english, 2011

11

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

Vanesa Álvarez-Iglesias, Ana Mosquera-Miguel, Ivón Cuscó, Ángel Carracedo, Luis Alberto Pérez-Jurado, Antonio Salas

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 223 KB

english, 2011

12

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Ivon Cuscó, Miguel del Campo, Mireia Vilardell, Eva González, Blanca Gener, Enrique Galán, Laura Toledo, Luis A Pérez-Jurado

Journal:

BMC Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2008

13

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Stephen W. Scherer, Karen W. Gripp, Jaume Lucena, Linda Nicholson, Jean-Paul Bonnefont, Luis A. Pérez-Jurado, Lucy R. Osborne

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 317 KB

english, 2005

14

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Font-Llitjós, Mariona, Rodríguez-Santiago, Benjamín, Espino, Meritxell, Sillué, Ruth, Mañas, Sandra, Gómez, Laia, Pérez-Jurado, Luis A, Palacín, Manuel, Nunes, Virginia

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 462 KB

english, 2008

15

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 173 KB

english, 2011

16

De novo duplication and deletions at 7q in a three-generation family

Bertrand Isidor, Olaya Villa, Olivier Pichon, Annaig Briand, Damien Poulain, Pierre Boisseau, Luis Alberto Pérez-Jurado, Cédric Le Caignec

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 424 KB

english, 2012

17

Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes

Joanna M. Tarr, Ning Ding, Kirti Kaul, Anna Antonell, Luis A. Pérez-Jurado, Rakesh Chibber

Journal:

Cellular Signalling

Année:

2012

Langue:

english

Fichier:

PDF, 640 KB

english, 2012

18

Genetic and genomic analysis modeling of germlinec-MYCoverexpression and cancer susceptibility

Xavier Solé, Pilar Hernández, Miguel López de Heredia, Lluís Armengol, Benjamín Rodríguez-Santiago, Laia Gómez, Christopher A Maxwell, Fernando Aguiló, Enric Condom, Jesús Abril, Luis Pérez-Jurado, Xa

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2008

19

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

Castelo-Branco, Miguel, Mendes, Mafalda, Sebastião, Ana Raquel, Reis, Aldina, Soares, Mário, Saraiva, Jorge, Bernardes, Rui, Flores, Raquel, Pérez-Jurado, Luis, Silva, Eduardo

Journal:

Journal of Clinical Investigation

Année:

2007

Langue:

english

Fichier:

PDF, 1000 KB

english, 2007

20

A Mouse Single-Copy Gene,Gtf2i,the Homolog of HumanGTF2I,That Is Duplicated in the Williams–Beuren Syndrome Deletion Region

Yu-Ker Wang, Luis A. Pérez-Jurado, Uta Francke

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 1.22 MB

english, 1998

21

P6: Detection of pathologic and polymorphic cryptic chromosomal imbalances by array-CGH using a BAC-array targeting regions between segmental duplications

Eva González, Ivon Cuscó, Olaya Villa, Mireia Vilardell, Benjamí Rodríguez, Juanjo Lozano, Luis Pérez-Jurado, Xavier Estivill, Lauro Sumoy

Journal:

European Journal of Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 44 KB

english, 2005

22

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

Risa Peoples, Yvonne Franke, Yu-Ker Wang, Luis Pérez-Jurado, Tamar Paperna, Michael Cisco, Uta Francke

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2000

23

Genome-wide CNV analysis replicates the association betweenGSTM1deletion and bladder cancer: a support for using continuous measurement from SNP-array data

Marenne, Gaëlle, Real, Francisco X, Rothman, Nathaniel, Rodríguez-Santiago, Benjamin, Pérez-Jurado, Luis, Kogevinas, Manolis, García-Closas, Montse, Silverman, Debra T, Chanock, Stephen J, Génin, Emma

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 277 KB

english, 2012

24

TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif

Segura-Puimedon, Maria, Borralleras, Cristina, Pérez-Jurado, Luis A., Campuzano, Victoria

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 952 KB

english, 2013

25

DNA methylation abnormalities in congenital heart disease

Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2015

26

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3

Tachibana, Masayoshl, Perez-Jurado, Luis A., Nakayama, Atsuo, Hodgkinson, Colin A., Li, Xu, Schneider, Mark, Miki, Toru, Fex, Jo¨ren, Francke, Uta, Amheiter, Heinz

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.89 MB

english, 1994

27

Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene

Pérez-Jurado, Luis A., Francke, Uta

Journal:

Human Molecular Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 96 KB

english, 1993

28

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

Somerville, Martin J., Mervis, Carolyn B., Young, Edwin J., Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A., Morris, Colleen A.,

Journal:

Boston Medical and Surgical Journal

Année:

2005

Langue:

english

Fichier:

PDF, 198 KB

english, 2005

29

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Borralleras, Cristina, Sahun, Ignasi, Pérez-Jurado, Luis A, Campuzano, Victoria

Journal:

Molecular Therapy

Année:

2015

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2015

30

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

Hernandez-Ferrer, Carles, Quintela Garcia, Ines, Danielski, Katharina, Carracedo, Ángel, Pérez-Jurado, Luis A., González, Juan R.

Journal:

BMC Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 3.51 MB

english, 2015

31

Targeting Tryptophan and Tyrosine Metabolism by Liquid Chromatography Tandem Mass Spectrometry.

Marcos, Josep, Renau, Nuria, Valverde, Olga, Aznar-Laín, Gemma, Gracia-Rubio, Irene, Gonzalez-Sepulveda, Marta, Pérez-Jurado, Luis Alberto, Ventura, Rosa, Segura, Jordi, Pozo, Oscar J.

Journal:

Journal of Chromatography A

Année:

2016

Langue:

english

Fichier:

PDF, 296 KB

english, 2016

32

A view on clinical genetics and genomics in Spain: of challenges and opportunities

Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo-Salellas, Ignasi, Pérez-Jurado, Luis A., Pujol, Aurora

Journal:

Molecular Genetics & Genomic Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 1.48 MB

english, 2016

33

Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences

Pérez-García, Débora, Brun-Gasca, Carme, Pérez-Jurado, Luis A., Mervis, Carolyn B.

Journal:

American Journal on Intellectual and Developmental Disabilities

Année:

2017

Langue:

english

Fichier:

PDF, 186 KB

english, 2017

34

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.,

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 649 KB

english, 2017

35

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency

Hawkins-Carranza, Federico G., Muñoz-Calvo, María T., Martos-Moreno, Gabriel Á., Allo-Miguel, Gonzalo, Del Río, Luis, Pozo, Jesús, Chowen, Julie A., Pérez-Jurado, Luis A., Argente, Jesús

Journal:

Hormone Research in Paediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 111 KB

english, 2018

36

Genetic causes of proportionate short stature

Argente, Jesús, Pérez-Jurado, Luis A.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 21.21 MB

english, 2018

37

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Bou de Pieri, Francesc, Flores, Raquel, González, Juan R., Rodríguez-Santiago, Benjamín, Argente, Jesús, Pérez-Jurado, Luis A., Estivill, Xavier

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2017

38

New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Óscar, Pérez-Jurado, Luis, Carracedo, Ángel, Sa

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 512 KB

english, 2009

39

A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding

Granell, Susana, Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Díaz, Francisca, Pérez-Jurado, Luis A., Baldini, Giulia, Argente, Jesús, Tena-Sempere, Manuel

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 409 KB

english, 2012

40

A genomic cause of cerebral palsy should not change the clinical classification

MacLennan, Alastair, Gecz, Jozef, Pérez-Jurado, Luis

Journal:

Annals of Clinical and Translational Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 48 KB

english, 2018

41

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Bou de Pieri, Francesc, Flores, Raquel, Chowen, Julie A., Pérez-Jurado, Luis A., Argente, Jesús

Journal:

International Journal of Obesity

Année:

2019

Langue:

english

Fichier:

PDF, 943 KB

english, 2019

42

Análisis de la comunicación intra-familiar de los resultados genéticos diagnósticos en cáncer hereditario

Del Barrio, Cristina, Del Campo, Miguel, Pérez-Jurado, Luis, Teulé, Alexandre, Iglesias, Sílvia, Salinas, Mònica, Blanco, Ignacio

Journal:

Psicooncología

Année:

2017

Fichier:

PDF, 455 KB

2017

43

scoreInvHap: Inversion genotyping for genome-wide association studies

Ruiz-Arenas, Carlos, Cáceres, Alejandro, López-Sánchez, Marcos, Tolosana, Ignacio, Pérez-Jurado, Luis, González, Juan R., Zhu, Xiaofeng

Journal:

Année:

2019

Fichier:

PDF, 1.40 MB

2019

44

Extreme down-regulation of chromosome Y and cancer risk in men

Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R

Journal:

JNCI Journal of the National Cancer Institute

Année:

2020

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2020

45

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rac

Journal:

Nature Communications

Année:

2020

Fichier:

PDF, 825 KB

2020