Search Results - "Huygen, Patrick L.M."

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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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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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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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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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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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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USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II by Pennings, Ronald J.E., te Brinke, Heleen, Weston, Michael D., Claassen, Annemarie, Orten, Dana J., Weekamp, Henriëtte, van Aarem, Annelies, Huygen, Patrick L.M., Deutman, August F., Hoefsloot, Lies H., Cremers, Frans P.M., Cremers, Cor W.R.J., Kimberling, William J., Kremer, Hannie

“…Usher syndrome type II (USH2) is characterised by moderate to severe high‐frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and…”
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Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9) by Collin, Rob W.J., Pauw, Robert J., Schoots, Jeroen, Huygen, Patrick L.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Kremer, Hannie

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A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation by Bischoff, Anne M L C, Luijendijk, Mirjam W J, Huygen, Patrick L M, van Duijnhoven, Gerard, De Leenheer, Els M R, Oudesluijs, Grétel G, Van Laer, Lut, Cremers, Frans P M, Cremers, Cor W R J, Kremer, Hannie

“…A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of…”
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Vertical Corneal Striae in Families with Autosomal Dominant Hearing Loss: DFNA9/ COCH by Bischoff, Anne M.L.C, Pauw, Robert J, Huygen, Patrick L.M, Aandekerk, Albert L, Kremer, Hannie, Cremers, Cor W.R.J, Cruysberg, Johannes R.M

“…Purpose Investigation of a possible association between vertical corneal striae and mutations in the COCH gene, observed in four DFNA9 families with autosomal…”
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A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment by Van Camp, Guy, Coucke, Paul J., Akita, Jiro, Fransen, Erik, Abe, Satoko, De Leenheer, Els M.R., Huygen, Patrick L.M., Cremers, Cor W.R.J., Usami, Shin-Ichi

“…Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two…”
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Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W by Pauw, Robert J, Collin, Rob W J, Huygen, Patrick L M, Hoefsloot, Lies H, Kremer, Hannie, Cremers, Cor W R J

“…The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH…”
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Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9 by Bom, Steven J.H., Kemperman, Martijn H., De Kok, Yvonne J.M., Huygen, Patrick L.M., Verhagen, Wim I.M., Cremers, Frans P.M., Cremers, Cor W.R.J.

“…Objectives: Analysis of phenotype‐genotype correlation. Study Design: Family study. Methods: Auditory and vestibulo‐ocular functions were examined in a Dutch…”
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Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations by Pennings, Ronald J E, Huygen, Patrick L M, van den Ouweland, Jody M W, Cryns, Kim, Dikkeschei, Lambert D, Van Camp, Guy, Cremers, Cor W R J

“…This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the…”
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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment by Santos, Regie Lyn P, Häfner, Franziska M, Huygen, Patrick L M, Linder, Thomas E, Schinzel, Albert A, Spillmann, Thomas, Leal, Suzanne M

“…This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant…”
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Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome by Cremers, Cor W.R.J., Admiraal, Ronald J.C., Huygen, Patrick L.M., Bolder, Cuny, Everett, Lorraine A., Joosten, Frank B.M., Green, Eric D., van Camp, Guy, Otten, Barto J.

“…Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical…”
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A mutational hot spot in theKCNQ4 gene responsible for autosomal dominant hearing impairment by Van Camp, Guy, Coucke, Paul J., Akita, Jiro, Fransen, Erik, Abe, Satoko, De Leenheer, Els M.R., Huygen, Patrick L.M., Cremers, Cor W.R.J., Usami, Shin-Ichi

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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 by Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie

“…Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss…”
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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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