Zobrazeno 1 - 10
of 215
pro vyhledávání: '"Patrick L. M. Huygen"'
Autor:
Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Publikováno v:
Biomolecules, Vol 12, Iss 2, p 220 (2022)
Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype corr
Externí odkaz:
https://doaj.org/article/76007738f70f47bb8d879ea1a1a1ea33
Autor:
Sybren M M, Robijn, Jeroen J, Smits, Kadriye, Sezer, Patrick L M, Huygen, Andy J, Beynon, Erwin, van Wijk, Hannie, Kremer, Erik, de Vrieze, Cornelis P, Lanting, Ronald J E, Pennings
Publikováno v:
Biomolecules. 12(2)
Pathogenic missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ce7cb5503c2d15f7186e8d89276cf03
https://pubmed.ncbi.nlm.nih.gov/35204720
https://pubmed.ncbi.nlm.nih.gov/35204720
Autor:
Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick L M Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard J H Smith
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005137 (2015)
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel sequencing (TGE+MPS) the rate of novel deafness
Externí odkaz:
https://doaj.org/article/3d71b5413dfb479d80203d8482249e74
Autor:
Ronald J.E. Pennings, Eline van Beelen, Andy J. Beynon, Hannie Kremer, Jaap Oostrik, Jeroen Smits, Cornelis P. Lanting, Patrick L. M. Huygen, N.J.D. Weegerink, Erik de Vrieze, Henricus P. M. Kunst, Margit Schraders
Publikováno v:
Otology & Neurotology, 42, e399-e407
Otology & Neurotology, 42, 4, pp. e399-e407
Otology & Neurotology, 42, 4, pp. e399-e407
Contains fulltext : 231650.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. STUDY DESIGN: Genotype-phenotype correlation study. Genetic ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9352e3dc3d6692af3f6b9ff24fe08725
https://doi.org/10.1097/MAO.0000000000003004
https://doi.org/10.1097/MAO.0000000000003004
Autor:
Patrick L. M. Huygen, Fernando Mayo, M. Villamar, Matías Morín, D. Tellería, M. Lachgar, Hela Azaiez, L. Sa ntos Serrão de Castro, Kevin T. Booth, L. Borreguero, C. Morales, B Arellano, L.C. Barrio, I del Castillo, Richard J.H. Smith, Moreno Pelayo
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-17 (2020)
Scientific Reports, 10
Scientific Reports
Scientific Reports, 10
Scientific Reports
The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we have performed the mutational screening of EYA4 gene by DHLPC and NGS in a large cohort of 531
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b3590f7fedeead3e810eba25a1f724
https://doi.org/10.1038/s41598-020-63256-5
https://doi.org/10.1038/s41598-020-63256-5
Autor:
Myrthe K. S. Hol, Henricus P. M. Kunst, Cor W. R. J. Cremers, Patrick L. M. Huygen, Ronald J.E. Pennings, Joost J A Stultiens, Anne M.M. Oonk, Jef J. S. Mulder, Emmanuel A. M. Mylanus
Publikováno v:
Otology & Neurotology, 40(5S Suppl 1), S43-S50. LIPPINCOTT WILLIAMS & WILKINS
Otology & Neurotology, 40, S43-s50
Otology & Neurotology, 40, 5S Suppl 1, pp. S43-s50
Otology & Neurotology, 40, S43-s50
Otology & Neurotology, 40, 5S Suppl 1, pp. S43-s50
OBJECTIVE: To evaluate short- and long-term hearing results of surgery for acquired atresia of the external auditory canal (EAC) in a large patient cohort and to define preoperative audiometric conditions useful for patient counseling.STUDY DESIGN: R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3951f3da986891601b1ce74e6fe4a7f
https://pubmed.ncbi.nlm.nih.gov/31225822
https://pubmed.ncbi.nlm.nih.gov/31225822
Autor:
William J. Kimberling, Patrick L. M. Huygen, James W. Askew, Katherine R. Smith, Denise M. Hoover, Kevin T. Booth, Judith B. Kenyon, Richard J.H. Smith, Shelley D. Smith, Zohreh Talebizadeh, Hela Azaiez, James D. Eudy, Melanie Bahlo, Michael S. Hildebrand
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 948-954
Genetics in Medicine, 21, 4, pp. 948-954
Genetics in Medicine, 21, 948-954
Genetics in Medicine, 21, 4, pp. 948-954
Purpose: The aim of this study was to determine the genetic cause of autosomal dominant non-syndromic hearing loss segregating in a multi-generational family. Methods: Clinical examination, genome-wide linkage analysis, and exome sequencing were carr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bcba4f5fd1afe3a55b277dee7d4d1a9
https://pubmed.ncbi.nlm.nih.gov/30245514
https://pubmed.ncbi.nlm.nih.gov/30245514
Autor:
E.A. Black-Ziegelbein, S.B. Shibata, Nicole C. Meyer, Hela Azaiez, Patrick L. M. Huygen, Aiden Eliot Shearer, Kevin T. Booth, Richard J.H. Smith, Fengxiao Bu, Diana L. Kolbe
Publikováno v:
Human Mutation, 35, 7, pp. 819-23
Human Mutation, 35, 819-23
Human Mutation, 35, 819-23
Item does not contain fulltext Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segrega
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e565564febca651ef10e4ebb4fd261d
https://doi.org/10.1002/humu.22557
https://doi.org/10.1002/humu.22557
Autor:
Ronald J.E. Pennings, Patrick L. M. Huygen, Henricus P. M. Kunst, Lies H. Hoefsloot, Ad F. M. Snik, Ronald J.C. Admiraal, E. van Beelen, Joop M. Leijendeckers
Publikováno v:
Audiology and Neurotology. 19:106-114
We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ae09a4210171277a4cc6e0d0d07dcdf
https://doi.org/10.1159/000356303
https://doi.org/10.1159/000356303
Autor:
Andy J. Beynon, Anne M.M. Oonk, Ronald J.E. Pennings, Ad F. M. Snik, Joop M. Leijendeckers, Patrick L. M. Huygen, Hannie Kremer, Henricus P. M. Kunst, Jaap Oostrik, N.J.D. Weegerink, E.M. Lammers
Publikováno v:
Hearing Research, 299, 88-98
Hearing Research, 299, pp. 88-98
Hearing Research, 299, pp. 88-98
Item does not contain fulltext Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ed2bf549be18a834a070efe5586b32
https://hdl.handle.net/2066/117495
https://hdl.handle.net/2066/117495