Search Results - "Huygen, Patrick"

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment by Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie

“…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…”
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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 by Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.

“…Purpose The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family…”
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice by Azaiez, Hela, Decker, Amanda R, Booth, Kevin T, Simpson, Allen C, Shearer, A Eliot, Huygen, Patrick L M, Bu, Fengxiao, Hildebrand, Michael S, Ranum, Paul T, Shibata, Seiji B, Turner, Ann, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H

“…Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of…”
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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction by Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L.M., Strom, Tim M., van Wijk, Erwin, Kunst, Henricus P.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Admiraal, Ronald J.C., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with…”
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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa by Hartel, Bas P., Löfgren, Maria, Huygen, Patrick L.M., Guchelaar, Iris, Lo-A-Njoe Kort, Nicole, Sadeghi, Andre M., van Wijk, Erwin, Tranebjærg, Lisbeth, Kremer, Hannie, Kimberling, William J., Cremers, Cor W.R.J., Möller, Claes, Pennings, Ronald J.E.

“…Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher…”
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment by Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie

“…We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive…”
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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype by Smits, Jeroen J., van Beelen, Eline, Weegerink, Nicole J. D., Oostrik, Jaap, Huygen, Patrick L. M., Beynon, Andy J., Lanting, Cornelis P., Kunst, Henricus P. M., Schraders, Margit, Kremer, Hannie, de Vrieze, Erik, Pennings, Ronald J. E.

“…To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. Genotype-phenotype correlation study. Genetic analysis…”
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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 by Fransen, Erik, Topsakal, Vedat, Hendrickx, Jan-Jaap, Van Laer, Lut, Huyghe, Jeroen R., Van Eyken, Els, Lemkens, Nele, Hannula, Samuli, Mäki-Torkko, Elina, Jensen, Mona, Demeester, Kelly, Tropitzsch, Anke, Bonaconsa, Amanda, Mazzoli, Manuela, Espeso, Angeles, Verbruggen, Katia, Huyghe, Joke, Huygen, Patrick L. M., Kunst, Sylvia, Manninen, Minna, Diaz-Lacava, Amalia, Steffens, Michael, Wienker, Thomas F., Pyykkö, Ilmari, Cremers, Cor W. R. J., Kremer, Hannie, Dhooge, Ingeborg, Stephens, Dafydd, Orzan, Eva, Pfister, Markus, Bille, Michael, Parving, Agnete, Sorri, Martti, Van de Heyning, Paul, Van Camp, Guy

“…A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples,…”
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AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening by Taylor, Kyle R., DeLuca, Adam P., Shearer, A. Eliot, Hildebrand, Michael S., Black-Ziegelbein, E. Ann, Anand, V. Nikhil, Sloan, Christina M., Eppsteiner, Robert W., Scheetz, Todd E., Huygen, Patrick L. M., Smith, Richard J. H., Braun, Terry A., Casavant, Thomas L.

“…ABSTRACT Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high degree of genetic…”
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Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations by Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.

“…In the present study, genotype–phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We…”
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Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease by Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro

“…OBJECTIVES:MYH9-related disease (MYH9-RD) is an autosomal- dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain…”
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Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis by Robijn, Sybren M M, Smits, Jeroen J, Sezer, Kadriye, Huygen, Patrick L M, Beynon, Andy J, van Wijk, Erwin, Kremer, Hannie, de Vrieze, Erik, Lanting, Cornelis P, Pennings, Ronald J E

“…Pathogenic missense variants in are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without…”
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Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal by Stultiens, Joost J.A, Huygen, Patrick L.M, Oonk, Anne M.M, Mylanus, Emmanuel A.M, Kunst, Henricus P.M, Hol, Myrthe K.S, Cremers, Cor W.R.J, Mulder, Jef J.S, Pennings, Ronald J.E

“…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…”
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Clinical outcome of the simplified surgical technique for BAHA implantation by de Wolf, Maarten J F, Hol, Myrthe K S, Huygen, Patrick L M, Mylanus, Emmanuel A M, Cremers, Cor W R J

“…To evaluate the clinical outcome of a simplified surgical technique for BAHA implantation, in terms of implant failure and its causes. Retrospective analysis…”
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Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction by Robertson, Nahid G., Cremers, Cor W.R.J., Huygen, Patrick L.M., Ikezono, Tetsuo, Krastins, Bryan, Kremer, Hannie, Kuo, Sharon F., Liberman, M. Charles, Merchant, Saumil N., Miller, Constance E., Nadol, Joseph B., Sarracino, David A., Verhagen, Wim I.M., Morton, Cynthia C.

“…Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset,…”
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Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment by van Beelen, Eline, Oonk, Anne M M, Leijendeckers, Joop M, Hoefsloot, Elisabeth H, Pennings, Ronald J E, Feenstra, Ilse, Dieker, Hendrik-Jan, Huygen, Patrick L M, Snik, Ad F M, Kremer, Hannie, Kunst, Henricus P M

“…OBJECTIVES:Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment…”
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Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1 by de Heer, Anne-Martine R, Collin, Rob W J, Huygen, Patrick L M, Schraders, Margit, Oostrik, Jaap, Rouwette, Myrthe, Kunst, Henricus P M, Kremer, Hannie, Cremers, Cor W R J

“…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…”
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Familial Aggregation of Pure Tone Hearing Thresholds in an Aging European Population by Hendrickx, Jan-Jaap, Huyghe, Jeroen R, Topsakal, Vedat, Demeester, Kelly, Wienker, Thomas F, Laer, Lut Van, Eyken, Els Van, Fransen, Erik, Mäki-Torkko, Elina, Hannula, Samuli, Parving, Agnete, Jensen, Mona, Tropitzsch, Anke, Bonaconsa, Amanda, Mazzoli, Manuela, Espeso, Angeles, Verbruggen, Katja, Huyghe, Joke, Huygen, Patrick L.M, Kremer, Hannie, Kunst, Sylvia J, Diaz-Lacava, Amalia N, Steffens, Michael, Pyykkö, Ilmari, Dhooge, Ingeborg, Stephens, Dafydd, Orzan, Eva, Pfister, Markus H.F, Bille, Michael, Sorri, Martti, Cremers, Cor W.R.J, Camp, Guy Van, de Heyning, Paul Van

“…OBJECTIVETo investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition,…”
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss by Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Wesemael, Maarten Van, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.

“…The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population‐based…”
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Nijmegen Results with Application of a Bone-Anchored Hearing Aid in Children: Simplified Surgical Technique by de Wolf, Maarten J. F., Hol, Myrthe K. S., Huygen, Patrick L. M., Mylanus, Emmanuel A. M., Cremers, W. R. J.

“…Objectives: A retrospective analysis was performed to evaluate the clinical outcome of percutaneous bone-anchored hearing aid (BAHA) application in children…”
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