Search Results - "Oostrik, Jaap"

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A by Reurink, Janine, Oostrik, Jaap, Aben, Marco, Ramos, Mariana Guimarães, van Berkel, Emma, Ołdak, Monika, van Wijk, Erwin, Kremer, Hannie, Roosing, Susanne, Cremers, Frans P. M.

“…Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive…”
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A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment by SCHRAUWEN, Isabelle, HELFMANN, Sarah, DHEEDENE, Annelies, CLAES, Charlotte, FRANSEN, Erik, HASHEMZADEH CHALESHTORI, Morteza, COUCKE, Paul, LEE, Amy, MOSER, Tobias, VAN CAMP, Guy, INAGAKI, Akira, PREDOEHL, Friederike, AMIN TABATABAIEFAR, Mohammad, MAGDALENA PICHER, Maria, SOMMEN, Manou, ZAZO SECO, Celia, OOSTRIK, Jaap, KREMER, Hannie

“…CaBPs are a family of Ca(2+)-binding proteins related to calmodulin and are localized in the brain and sensory organs, including the retina and cochlea…”
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Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families by Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M, Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A, Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel

“…The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families…”
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Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss by YARIZ, Kemal O, DUMAN, Duygu, OOSTRIK, Jaap, DIAZ-HORTA, Oscar, YOUNG, Juan I, TOKGOZ-YILMAZ, Suna, KONUKSEVEN, Ozlem, SHAHIN, Hashem, HETTERSCHIJT, Lisette, KANAAN, Moien, OONK, Anne M. M, EDWARDS, Yvonne J. K, CELIA ZAZO SECO, HUAWEI LI, ATALAY, Semra, BLANTON, Susan, DESMIDT, Alexandra A, LIU, Xue-Zhong, PENNINGS, Ronald J. E, ZHONGMIN LU, CHEN, Zheng-Yi, KREMER, Hannie, TEKIN, Mustafa, DALLMAN, Julia, MINGQIAN HUANG, PETERS, TheoA, SIRMACI, Asli, NA LU, SCHRADERS, Margit, SKROMNE, Isaac

“…Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion…”
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“…Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct…”
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AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 by de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin

“…The c.151C>T founder mutation in COCH is a frequent cause of late-onset, dominantly inherited hearing impairment and vestibular dysfunction (DFNA9) in the…”
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Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases by Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie

“…A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to…”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 by Seco, Celia Zazo, Oonk, Anne M M, Domínguez-Ruiz, María, Draaisma, Jos M T, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P M, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald J E, Kremer, Hannie, Admiraal, Ronald J C, Schraders, Margit

“…In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by…”
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment by SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO

“…Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more genes are still to be identified. In…”
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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family by Siddiqi, Saima, Ismail, Muhammad, Oostrik, Jaap, Munawar, Saba, Mansoor, Atika, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

“…With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani…”
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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 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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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome by Siddiqi, Saima, Siddiq, Saadat, Mansoor, Atika, Oostrik, Jaap, Ahmad, Nafees, Kazmi, Syed Ali Raza, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

“…Bjørnstad syndrome is an extremely rare condition characterized by pilitorti and nerve deafness. Only few large families have been reported worldwide. Here we…”
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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment by Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D

“…Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a…”
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy by Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-Hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M, Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P, Khor, Chiea Chuen, Göpfert, Martin C, Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima

“…A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of…”
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Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35 by Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, van der Zwaag, Bert, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Çaylan, Refik, Li, Yun, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Kremer, Hannie

“…In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on…”
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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant by Reurink, Janine, de Vrieze, Erik, Li, Catherina H. Z., van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D. N., Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J. C., Ockeloen, Charlotte W., Haer-Wigman, Lonneke, Hoyng, Carel B., Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin

“…The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP)…”
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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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Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family by de Heer, Anne-Martine R., Schraders, Margit, Jaap, Oostrik, Hoefsloot, Lies, Huygen, Patrick L. M., Cremers, W. R. J.

“…Objectives: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural hearing loss, genetic analysis can be successful when…”
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants by Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.

“…Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or…”
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