Výsledky vyhledávání - "P. van Hauwe"

Akademický článek

Rho GTPase Cdc42 is essential for human T-cell development

Autor: Kaatje Smits, Veronica Iannucci, Veronique Stove, Peter Van Hauwe, Evelien Naessens, Pieter J. Meuwissen, Kevin K. Ariën, Mostafa Bentahir, Jean Plum, Bruno Verhasselt

Publikováno v: Haematologica, Vol 95, Iss 3 (2010)

Background Rho GTPases are involved in the regulation of many cell functions, including some related to the actin cytoskeleton. Different Rho GTPases have been shown to be important for T-cell development in mice. However, their role in human T-cell

Externí odkaz: https://doaj.org/article/7cb738978d41463eb3312e01ad0ca006

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Akademický článek

An interlaboratory comparison of ITS2-PCR for the identification of yeasts, using the ABI Prism 310 and CEQ8000 capillary electrophoresis systems

Autor: Verschraegen Gerda, Boel An, De Beenhouwer Hans, Van Hauwe Peter, Van Keerberghen Anne, De Baere Thierry, Claeys Geert, Vaneechoutte Mario

Publikováno v: BMC Microbiology, Vol 5, Iss 1, p 14 (2005)

Abstract Background Currently, most laboratories identify yeasts routinely on the basis of morphology and biochemical reactivity. This approach has quite often limited discriminatory power and may require long incubation periods. Due to the increase

Externí odkaz: https://doaj.org/article/276d5e3c76de4b00af1b7946f34ded87

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A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

Autor: Paul Coucke, Patrick L. M. Huygen, P. van Hauwe, R.J.H. Ensink, C.W.R.J. Cremers, G. Van Camp

Publikováno v: European Archives of Oto-Rhino-Laryngology, 257, 62-67
European archives of oto-rhino-laryngology
European Archives of Oto-Rhino-Laryngology, 257, pp. 62-67

We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b12d0f82d9b967fcf5e1882941fe1d6
https://doi.org/10.1007/pl00007511

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Mutations in KCNQ4K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

Autor: G. Van Camp, Paul Coucke, P. van Hauwe, R.J.H. Ensink, Patrick L. M. Huygen, C.W.R.J. Cremers

Publikováno v: American Journal of Medical Genetics, 93, 184-187
American Journal of Medical Genetics, 93, 3, pp. 184-187
American journal of medical genetics

The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4. GJB3 is a member of the connexin gene family and KCNQ4 is a voltage-gated potassium chan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c689016737ed8b0b0317dcbffc07ddfe
https://doi.org/10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co

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Two frequent missense mutations in Pendred syndrome

Autor: S. Srisailapathy, Arabandi Ramesh, N.L. Dietrich, Eric D. Green, Agnete Parving, Carrie Ris-Stalpers, Lorraine A. Everett, C.H.H.M. Bolder, P. van Hauwe, M.L. Kraft, Barto J. Otten, G. Van Camp, Daryl A. Scott, C.W.R.J. Cremers, J. J. M. De Vijlder, Paul Coucke, P.H.G.M. Willems, Richard J.H. Smith

Publikováno v: Human Molecular Genetics, 7, pp. 1099-1104
Human molecular genetics
Human molecular genetics, 7(7), 1099-1104. Oxford University Press
Human Molecular Genetics, 7, 1099-1104

Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a8941345a7105b5b9af71835080121
https://doi.org/10.1093/hmg/7.7.1099

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Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene toa 1.25 Mb region on chromosome 1p

Autor: P. van Hauwe, Frank Declau, Richard J.H. Smith, Henri A. M. Marres, M. van Ewijk, G. Van Camp, Cor W. R. J. Cremers, P. Van de Heyning, D. van Velzen, Isabelle Schatteman, Paul Coucke, P.H.G.M. Willems, J. B. Kenyon, J. Meyers, Bulantrisna Djelantik, Shelley D. Smith, Henricus P. M. Kunst

Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 70-74
STARTPAGE=70;ENDPAGE=74;ISSN=0888-7543;TITLE=Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 1, pp. 70-83
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, pp. 70-74
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 70-83
Genomics: international journal of gene mapping and nucleotide sequencing

Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was orig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baea333ab9f83752d831374fc14fbdfd
https://hdl.handle.net/2066/142538

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CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal inter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e1aadffedff26e4faa31c77f72df424
https://europepmc.org/articles/PMC379159/

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Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

Autor: P, Van Hauwe, P J, Coucke, R J, Ensink, P, Huygen, C W, Cremers, G, Van Camp

Publikováno v: American journal of medical genetics. 93(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca5d81d9ee2e77799b4f25995c0d586b
https://pubmed.ncbi.nlm.nih.gov/10925378

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