Výsledky vyhledávání - "P.H.G.M. Willems"

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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Cross-linking of Both Types of IgG Fc Receptors, FcgammayRI and FcgammayRII, Enhances Intracellular Free Ca2+ in the Monocytic Cell Line U937

Autor: Wil J.M. Tax, J. G. J. Van De Winkel, T.W.J. Huizinga, P.H.G.M. Willems, C. W. M. Jacobs

Publikováno v: Scandinavian Journal of Immunology. 31:315-325

We have studied the effects of Fc receptor triggering on the free cytosolic Ca2+ concentration, [Ca2+]i, in U937. These cells express two types of IgG Fc receptors, Fc gamma RI and Fc gamma RII. Binding of several anti-Fc gamma RI and anti-Fc gamma R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3122ca61be2acb3b000b046c7c5d03d
https://doi.org/10.1111/j.1365-3083.1990.tb02774.x

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Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families

Publikováno v: Human molecular genetics
Human Molecular Genetics, 8, 1321-1328
Human Molecular Genetics, 8, 7, pp. 1321-1328

We have previously found linkage to chromosome 1p34 in five large families with autosomal dominant non-syndromic hearing impairment (DFNA2). In all five families, the connexin31 gene ( GJB3 ), located at 1p34 and responsible for non-syndromic autosom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28aae8f4876312aa1aeb28222de0157
https://hdl.handle.net/10067/274180151162165141

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Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472

Autor: Kristien Verhoeven, H.J. ter Laak, Patrick L. M. Huygen, George W. Padberg, C.W.R.J. Cremers, G. Van Camp, P.H.G.M. Willems, R.J.H. Ensink, Henri A. M. Marres

Publikováno v: Archives of Otolaryngology--Head & Neck Surgery, 124, 8, pp. 886-891
Archives of Otolaryngology--Head & Neck Surgery, 124, pp. 886-891
Archives of Otolaryngology--Head & Neck Surgery, 124, 886-891
Archives of otolaryngology, head and neck surgery

Objectives To detect a mitochondrial mutation responsible for maternally transmitted hearing loss with late-onset neurologic features in a 3-generation Dutch family, and to describe the hearing loss, associated symptoms, and vestibular dysfunction. P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec674a9e1bc24c1f5baa7465b6d68f00
https://doi.org/10.1001/archotol.124.8.886

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Inherited nonsyndromic hearing loss: An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2

Autor: Henri A. M. Marres, G. Van Camp, M. van Ewijk, C.W.R.J. Cremers, Patrick L. M. Huygen, Henricus P. M. Kunst, Paul Coucke, P.H.G.M. Willems

Publikováno v: Archives of Otolaryngology--Head & Neck Surgery, 123, 573-577
Publons
Archives of Otolaryngology--Head & Neck Surgery, 123, 6, pp. 573-577
Archives of otolaryngology, head and neck surgery

Objective: To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred. Design: A 6-generation family with 194 family members was studied. Of the presumably affec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af06b4f44c8f7741e102eb1a9ad2af41
http://hdl.handle.net/2066/142533

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