Search Results - "Pennings, E J"

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases by Velde, Hedwig M., Vaseghi-Shanjani, Maryam, Smits, Jeroen J., Ramakrishnan, Gayatri, Oostrik, Jaap, Wesdorp, Mieke, Astuti, Galuh, Yntema, Helger G., Hoefsloot, Lies, Lanting, Cris P., Huynen, Martijn A., Lehman, Anna, Turvey, Stuart E., Pennings, Ronald J. E., Kremer, Hannie

“…Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical…”
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Natural History of Hearing Deterioration in Intracanalicular Vestibular Schwannoma by Pennings, Ronald J E., Morris, David P., Clarke, Linda, Allen, Stefan, Walling, Simon, Bance, Manohar L.

“…Abstract BACKGROUND: Intracanalicular vestibular schwannomas have a range of treatment options that can preserve hearing: microsurgery, stereotactic…”
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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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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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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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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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Risk factors for complications in cochlear implant surgery by Theunisse, Henricus J., Pennings, Ronald J. E., Kunst, Henricus P. M., Mulder, Jef J., Mylanus, Emmanuel A. M.

“…Purpose The objective of this study was to achieve uniform reporting of complications and failures in cochlear implantation, to analyze complications and…”
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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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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans by Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.

“…Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is…”
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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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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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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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Quality of Life and Cochlear Implantation in Usher Syndrome Type I by Damen, Godelieve W. J. A., Pennings, Ronald J. E., Snik, Ad F. M., Mylanus, Emmanuel A. M.

“…Objectives: The objectives of this descriptive, retrospective study were to evaluate quality of life, hearing, and vision in patients with Usher syndrome type…”
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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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Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I by Pennings, Ronald J. E., Damen, Godelieve W. J. A., Snik, Ad F. M., Hoefsloot, Lies, Cremers, Cor W. R. J., Mylanus, Emmanuel A. M.

“…Objective: The objective of this retrospective study was to evaluate the benefit and performance of cochlear implantation in patients with Usher syndrome type…”
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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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Analysis of Vibrant Soundbridge placement against the round window membrane in a human cadaveric temporal bone model by Pennings, Ronald J E, Ho, Allan, Brown, Jeremy, van Wijhe, René G, Bance, Manohar

“…To evaluate optimal placement of the Floating Mass Transducer of the Vibrant Soundbridge (Med-El, Innsbruck, Austria) against the round window membrane,…”
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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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Radiologic Confirmation of Patulous Eustachian Tube by Recumbent Computed Tomography by Oonk, Anne M M, Steens, Stefan C A, Pennings, Ronald J E

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Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II by van Wijk, Erwin, Pennings, Ronald J.E., te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., Cremers, Frans P.M., Cremers, Cor. W.R.J., Kremer, Hannie

“…The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and…”
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