Výsledky vyhledávání - "Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6]"

Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

Autor: Margit Schraders, Mariet W. Elting, Tim M. Strom, Hanka Venselaar, Susanne Granneman, Patrick L. M. Huygen, Cor W. R. J. Cremers, Jaap Oostrik, N.J.D. Weegerink, Henricus P. M. Kunst, Lies H. Hoefsloot, Ronald J.C. Admiraal, Ronald J.E. Pennings, Hannie Kremer

Publikováno v: Journal of the Association for Research in Otolaryngology, 12, 753-66
Journal of the Association for Research in Otolaryngology, 12(6), 753-766. Springer New York
JARO: Journal of the Association for Research in Otolaryngology
J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
Journal of the Association for Research in Otolaryngology, 12, 6, pp. 753-66
Weegerink, N J D, Schraders, M, Oostrik, J, Huygen, P L M, Strom, T M, Granneman, S, Pennings, R J E, Venselaar, H, Hoefsloot, L H, Elting, M W, Cremers, C W R J, Admiraal, R J C, Kremer, H & Kunst, H P M 2011, ' Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations ', Journal of the Association for Research in Otolaryngology, vol. 12, no. 6, pp. 753-766 . https://doi.org/10.1007/s10162-011-0282-3

In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the mutation data. The compound heteroz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6facead5e8dfae3ebb839ae2802ebd37
https://hdl.handle.net/1871/34924

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Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

Autor: Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, N.J.D. Weegerink, Ronald J.E. Pennings, Henricus P. M. Kunst, Hannie Kremer, Vera M. Kalscheuer, Sriram Kannan, Stefan A. Haas, Ronald J.C. Admiraal, Lies H. Hoefsloot, Hao Hu

Publikováno v: American Journal of Human Genetics, 88, 5, pp. 628-34
American Journal of Human Genetics, 88, 628-34

Contains fulltext : 97159.pdf (Publisher’s version ) (Closed access) In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked by the markers DXS710

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7880e8b2735073f6f72e6dc292079f
https://hdl.handle.net/2066/97159

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Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

Autor: Cor W. R. J. Cremers, Jaap Oostrik, A.M. de Heer, Patrick L. M. Huygen, Margit Schraders, Lies H. Hoefsloot

Publikováno v: Annals of Otology, Rhinology and Laryngology, 120, 243-8
Annals of Otology, Rhinology and Laryngology, 120, 4, pp. 243-8

Objectives: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural hearing loss, genetic analysis can be successful when there is a match with a specific DFNA audioprofile. We also provide an update of relevant DFNA2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa0c80d9d73a2d2d352ee0afe60ccab
https://doi.org/10.1177/000348941112000405

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Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1

Autor: Heer, A.M. de, Collin, R.W.J., Huygen, P.L.M., Schraders, M., Oostrik, J., Rouwette, M., Kunst, H.P.M., Kremer, J.M.J., Cremers, C.W.R.J.

Publikováno v: Audiology and Neuro-Otology, 16, 93-105
Audiology and Neuro-Otology, 16, 2, pp. 93-105

Item does not contain fulltext In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5d0224f224c5d34a0cd4d8aff5ec5197
http://hdl.handle.net/2066/97261

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Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family

Autor: Henricus P. M. Kunst, Margit Schraders, N.J.D. Weegerink, Ronald J.E. Pennings, Hubertus P. H. Kremer, Patrick L. M. Huygen

Publikováno v: Hearing Research, 282, pp. 167-77
Hearing Research, 282, 167-77

Objective Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene. Patients and methods Sixty family members participated in this study and examination consisted of medical history, oto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d0c78a5a33d13be59159bb63e651a0
https://hdl.handle.net/2066/96509

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Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Autor: C. R. Srikumari Srisailapathy, Kausik Ray, Richard J.H. Smith, Konrad Noben-Trauth, Nikoletta Charizopoulou, Margit Schraders, Ronald J.C. Admiraal, Jeffrey R. Holt, Joseph R. Latoche, Arabandi Ramesh, Harold R. Neely, John K. Northup, Hannie Kremer, Andrea Lelli, Michael S. Hildebrand, Jaap Oostrik

Publikováno v: Nature Communications
Nature Communications, 2, 201-201
Nature Communications, 2, pp. 201-201

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-relate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2212602474ceea84e1c011aeb52dd8
http://europepmc.org/articles/PMC3105340

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