Lut Van laer: шукати на сайті Z-Library

Рік:

2006

Мова:

english

Файл:

PDF, 255 KB

english, 2006

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns-Lê, Lut Van Laer, Anne De Paepe

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 402 KB

english, 2010

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Machteld Baetens, Lut Van Laer, Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Hendrik Van De Voorde, Marjolijn Renard, Hal Dietz, Ronald V. Lacro, Björn Menten, Wim Van Criekinge, Julie De Back

Журнал:

Journal of Medical Virology

Рік:

2011

Мова:

english

Файл:

PDF, 294 KB

english, 2011

Evaluation of host genetic and viral factors as surrogate markers for HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian HTLV-1-infected patients

Michael Talledo, Giovanni López, Jeroen R. Huyghe, Kristien Verdonck, Vanessa Adaui, Elsa González, Iván Best, Daniel Clark, Guido Vanham, Eduardo Gotuzzo, Guy Van Camp, Lut Van Laer

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 125 KB

english, 2010

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV-1

Michael Talledo, Giovanni López, Jeroen R. Huyghe, Kristien Verdonck, Elsa González, Daniel Clark, Guido Vanham, Eduardo Gotuzzo, Guy Van Camp, Lut Van Laer

Журнал:

Journal of Medical Virology

Рік:

2012

Мова:

english

Файл:

PDF, 154 KB

english, 2012

HLA-G 14 bp insertion/deletion polymorphism is not associated to proviral load levels and presence of HAM/TSP in Peruvian HTLV-1 infected individuals

Sandra Morales, Jason Rosado, Giovanni López, Jeroen Huyghe, Kristien Verdonck, Elsa González, Martin Tipismana, Daniel Clark, Guido Vanham, Eduardo Gotuzzo, Guy Van Camp, Lut Van laer, Michael Talled

Журнал:

Retrovirology

Рік:

2011

Мова:

english

Файл:

PDF, 128 KB

english, 2011

Host genetic factors associated to proviral load in Peruvian HTLV-1 infected

Michael Talledo, Giovanni López, Jeroen R Huyghe, Kristien Verdonck, Elsa González, Martin Tipismana, Daniel Clark, Guido Vanham, Eduardo Gotuzzo, Guy Van Camp, Lut Van Laer

Журнал:

Retrovirology

Рік:

2011

Мова:

english

Файл:

PDF, 128 KB

english, 2011

GJB2deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

Akihiro Ohtsuka, Isamu Yuge, Shinobu Kimura, Atsushi Namba, Satoko Abe, Lut Van Laer, Guy Van Camp, Shin-ichi Usami

Журнал:

Karen Vrijens, Lut Van Laer, Guy Van Camp

Рік:

2003

Мова:

english

Файл:

PDF, 243 KB

english, 2003

Human hereditary hearing impairment: mouse models can help to solve the puzzle

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 1.01 MB

english, 2008

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

Delfien Syx, Fransiska Malfait, Lut Van Laer, Jan Hellemans, Trinh Hermanns-Lê, Andy Willaert, Abdelmajid Benmansour, Anne De Paepe, Alain Verloes

Журнал:

Lut Van Laer, Guy Van Camp, Eric D. Green, Egbert H. Huizing, Patrick J. Willems

Рік:

2010

Мова:

english

Файл:

PDF, 574 KB

english, 2010

Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15

Журнал:

Journal of Human Genetics

Рік:

1997

Мова:

english

Файл:

PDF, 51 KB

english, 1997

A novelDFNA5mutation does not cause hearing loss in an Iranian family

Lut Van Laer, Nicole C. Meyer, Mahdi Malekpour, Yasser Riazalhosseini, Mahdi Moghannibashi, Kimia Kahrizi, Ann Vandevelde, Fatemeh Alasti, Hossein Najmabadi, Guy Van Camp, Richard J. H. Smith

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 223 KB

english, 2007

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study

Erik Fransen, Vedat Topsakal, Jan-Jaap Hendrickx, Lut Van Laer, Jeroen R. Huyghe, Els Van Eyken, Nele Lemkens, Samuli Hannula, Elina Mäki-Torkko, Mona Jensen, Kelly Demeester, Anke Tropitzsch, Amanda

Журнал:

Journal of the Association for Research in Otolaryngology

Рік:

2008

Мова:

english

Файл:

PDF, 211 KB

english, 2008

Analysis of Gene Polymorphisms Associated with K+ Ion Circulation in the Inner Ear of Patients Susceptible and Resistant to Noise-induced Hearing Loss

Malgorzata Pawelczyk, Lut Van Laer, Erik Fransen, Elzbieta Rajkowska, Annelies Konings, Per-Inge Carlsson, Erik Borg, Guy Van Camp, Mariola Sliwinska-Kowalska

Журнал:

Annals of Human Genetics

Рік:

2009

Мова:

english

Файл:

PDF, 294 KB

english, 2009

10.1038/2503

Laer, Lut Van, Huizing, Egbert H., Verstreken, Margriet, Zuijlen, Diederick van, Wauters, Jan G., Bossuyt, Paul J., Van de Heyning, Paul, McGuirt, Wyman T., Smith, Richard J.H., Willems, Patrick J., L

Журнал:

Nature Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 139 KB

english, 1998

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

Van Laer, Lut, Michel, Sophie, Pawelczyk, Malgorzata, Carlsson, Per-Inge, Bondeson, Marie-Louise, Rajkowska, Elzbieta, Dudarewicz, Adam, Vandevelde, Ann, Fransen, Erik, Konings, Annelies

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 139 KB

english, 2008

A genome-wide association study for age-related hearing impairment in the Saami

Van Laer, Lut, Huyghe, Jeroen R, Hannula, Samuli, Van Eyken, Els, Stephan, Dietrich A, Mäki-Torkko, Elina, Aikio, Pekka, Fransen, Erik, Lysholm-Bernacchi, Alana, Sorri, Martti

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 398 KB

english, 2010

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Huyghe, Jeroen R, Fransen, Erik, Hannula, Samuli, Van Laer, Lut, Van Eyken, Els, Mäki-Torkko, Elina, Aikio, Pekka, Sorri, Martti, Huentelman, Matthew J, Camp, Guy Van

Журнал:

de Beeck, Ken Op, Van Camp, Guy, Thys, Sofie, Cools, Nathalie, Callebaut, Isabelle, Vrijens, Karen, Van Nassauw, Luc, Van Tendeloo, Viggo FI, Timmermans, Jean Pierre, Van Laer, Lut

Рік:

2010

Мова:

english

Файл:

PDF, 476 KB

english, 2010

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

Журнал:

Verhoeven, Kristien, Ensink, Robbert JH, Tiranti, Valeria, Huygen, Patrick LM, Johnson, David F, Schatteman, Isabelle, Van Laer, Lut, Verstreken, Margriet, Van de Heyning, Paul, Fischel-Ghodsian, Nath

Рік:

2011

Мова:

english

Файл:

PDF, 738 KB

english, 2011

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Verhoeven, Kristien, Laer, Lut Van, Kirschhofer, Karin, Legan, P. Kevin, Hughes, David C., Schatteman, Isabelle, Verstreken, Margriet, Hauwe, Peter Van, Coucke, Paul, Chen, Achih

Журнал:

Nature Genetics

Рік:

1998

Файл:

PDF, 585 KB

1998

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Delmaghani, Sedigheh, del Castillo, Francisco J, Michel, Vincent, Leibovici, Michel, Aghaie, Asadollah, Ron, Uri, Van Laer, Lut, Ben-Tal, Nir, Van Camp, Guy, Weil, Dominique

Журнал:

Nature Genetics

Рік:

2006

Мова:

english

Файл:

PDF, 638 KB

english, 2006

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

Журнал:

Рік:

1999

Мова:

english

Файл:

PDF, 145 KB

english, 1999

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Van Laer, Lut, DeStefano, Anita L, Myers, Richard H, Flothmann, Kris, Thys, Sofie, Fransen, Erik, Gates, George A, Van Camp, Guy, Baldwin, Clinton T

Журнал:

Kim Cryns,Sofie Thys,Lut Van Laer,Yoshitomo Oka…

Рік:

2002

Мова:

english

Файл:

PDF, 84 KB

english, 2002

TheWFS1gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

Журнал:

Histochemistry and Cell Biology

Рік:

2003

Мова:

english

Файл:

PDF, 532 KB

english, 2003

Genome-wide SNP-Based Linkage Scan Identifies a Locus on 8q24 for an Age-Related Hearing Impairment Trait

Jeroen R. Huyghe, Lut Van Laer, Jan-Jaap Hendrickx, Erik Fransen, Kelly Demeester, Vedat Topsakal, Sylvia Kunst, Minna Manninen, Mona Jensen, Amanda Bonaconsa, Manuela Mazzoli, Manuela Baur, Samuli Ha

Журнал:

The American Journal of Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 495 KB

english, 2008

Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome

Karen Vrijens, Sofie Thys, Marcel T. De Jeu, Andrei A. Postnov, Markus Pfister, Luk Cox, An Zwijsen, Viviane Van Hoof, Marcus Mueller, Nora M. De Clerck, Chris I. De Zeeuw, Guy Van Camp, Lut Van Laer

Журнал:

Neurobiology of Disease

Рік:

2006

Мова:

english

Файл:

PDF, 927 KB

english, 2006

Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects

Erik Fransen, Nele Lemkens, Lut Van Laer, Guy Van Camp

Журнал:

Experimental Gerontology

Рік:

2003

Мова:

english

Файл:

PDF, 241 KB

english, 2003

Identification of a new connexin gene GJA11 (Cx59) using degenerate PCR primers

Paul J. Coucke, Lut Van Laer, Johan Meyers, Peter Van Hauwe, Natacha Ottschytsch, Jan G. Wauters, Philip Kelley, Patrick J. Willems, Guy Van Camp

Журнал:

GeneScreen

Рік:

2000

Мова:

english

Файл:

PDF, 553 KB

english, 2000

Characterization of the murine Dfna5 promoter and regulatory regions

Karen Vrijens, Guy Van Camp, Lut Van Laer

Журнал:

Gene

Рік:

2009

Мова:

english

Файл:

PDF, 987 KB

english, 2009

The influence of genetic variation in oxidative stress genes on human noise susceptibility

Per-Inge Carlsson, Lut Van Laer, Erik Borg, Marie-Louise Bondeson, Melissa Thys, Erik Fransen, Guy Van Camp

Журнал:

Hearing Research

Рік:

2005

Мова:

english

Файл:

PDF, 312 KB

english, 2005

Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population

Kelly Demeester, Astrid van Wieringen, Jan-jaap Hendrickx, Vedat Topsakal, Jeroen Huyghe, Erik Fransen, Lut Van Laer, Guy Van Camp, Paul Van de Heyning

Журнал:

Hearing Research

Рік:

2010

Мова:

english

Файл:

PDF, 517 KB

english, 2010

Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen–C group in susceptibility to human T-lymphotropic virus 1–associated myelopathy/tropical spastic paraparesis in Peru

Michael Talledo, Giovanni López, Jeroen R. Huyghe, Kristien Verdonck, Elsa González, Daniel Clark, David Senitzer, Guido Vanham, Eduardo Gotuzzo, Guy Van Camp, Lut Van Laer

Журнал:

Human Immunology

Рік:

2010

Мова:

english

Файл:

PDF, 247 KB

english, 2010

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells

Lut Van Laer, Markus Pfister, Sofie Thys, Karen Vrijens, Marcus Mueller, Lieve Umans, Lutgarde Serneels, Luc Van Nassauw, Frank Kooy, Richard J.H. Smith, Jean-Pierre Timmermans, Fred Van Leuven, Guy V

Журнал:

Neurobiology of Disease

Рік:

2005

Мова:

english

Файл:

PDF, 704 KB

english, 2005

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment

Juraj Gregan, Lut Van Laer, Louis D. Lieto, Guy Van Camp, Stephen E. Kearsey

Журнал:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Рік:

2003

Мова:

english

Файл:

PDF, 854 KB

english, 2003

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami

Huyghe, Jeroen R, Fransen, Erik, Hannula, Samuli, Van Laer, Lut, Van Eyken, Els, Mäki-Torkko, Elina, Lysholm-Bernacchi, Alana, Aikio, Pekka, Stephan, Dietrich A, Sorri, Martti, Huentelman, Matthew J,

Журнал:

American Journal of Medical Genetics Part A

Рік:

2010

Мова:

english

Файл:

PDF, 513 KB

english, 2010

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype

Wischmeijer, Anita, Van Laer, Lut, Tortora, Giada, Bolar, Nikhita Ajit, Van Camp, Guy, Fransen, Erik, Peeters, Nils, di Bartolomeo, Roberto, Pacini, Davide, Gargiulo, Gaetano, Turci, Simone, Bonvicini

Журнал:

Рік:

2013

Мова:

english

Файл:

PDF, 2.63 MB

english, 2013

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement

Rukavina, Iva, Mortier, Geert, Van Laer, Lut, Frković, Marijan, Đapić, Tomislav, Jelušić, Marija

Журнал:

Seminars in Arthritis and Rheumatism

Рік:

2014

Мова:

english

Файл:

PDF, 614 KB

english, 2014

An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Gillis, Elisabeth, Kempers, Marlies, Salemink, Simone, Timmermans, Janneke, Cheriex, Emile C., Bekkers, Sebastiaan C.A.M., Fransen, Erik, De Die-Smulders, Christine E.M., Loeys, Bart L., Laer, Lut Van

Журнал: