Search Results - "Pennings, Ronald J.E."

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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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction by Ragancokova, Daniela, Rocca, Elena, Oonk, Anne Mm, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald Je, Wende, Hagen, Garratt, Alistair N

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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa by Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD

“…Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied…”
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse by Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., van Dooren, M.F., de Gier, H.H.W., Hoefsloot, E.H., van der Schroeff, M.P., Kant, S.G., Rotteveel, L.J.C., Frints, S.G.M., Hof, J.R., Stokroos, R.J., Vanhoutte, E.K., Admiraal, R.J.C., Feenstra, I., Kremer, H., Kunst, H.P.M., Pennings, R.J.E., Yntema, H.G., van Essen, A.J., Free, R.H., Klein-Wassink, J.S., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie

“…In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing…”
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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction by Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J E, Wende, Hagen, Garratt, Alistair N

“…The olfactory bulb (OB) receives odor information from the olfactory epithelium and relays this to the olfactory cortex. Using a mouse model, we found that…”
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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 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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Comment on “Usherʼs Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test” by Hartel, Bas P, Pennings, Ronald J.E, van Wijk, Erwin

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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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Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a by Hendricks, Jessie M., Metz, Juriaan R., Velde, Hedwig M., Weeda, Jack, Hartgers, Franca, Yzer, Suzanne, Hoyng, Carel B., Pennings, Ronald J.E., Collin, Rob W.J., Boss, Myrthe H.M., de Vrieze, Erik, van Wijk, Erwin

“…To study the prevalence, level, and nature of sleep problems and fatigue experienced by Usher syndrome type 2a (USH2a) patients. Cross-sectional study…”
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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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Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease by Cryns, Kim, Sivakumaran, Theru A., Van den Ouweland, Jody M.W., Pennings, Ronald J.E., Cremers, Cor W.R.J., Flothmann, Kris, Young, Terry-Lynn, Smith, Richard J.H., Lesperance, Marci M., Camp, Guy Van

“…WFS1 is a novel gene and encodes an 890 amino‐acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie…”
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Cervical dystonia after ear surgery by van Gaalen, Judith, Pennings, Ronald J.E, Beynon, Andy J, Münchau, Alexander, Bloem, Bastiaan R, van de Warrenburg, Bart P.C

“…Abstract Background The pathophysiology of primary focal dystonia remains insufficiently understood, but may be explained by a ‘double-lesion’ model, in which…”
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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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Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma by Pennings, Ronald J.E., M.D., Ph.D, Marres, Henri A.M., M.D., Ph.D, den Heeten, Annemarie, M.D, van den Hoogen, Frank J.A., M.D., Ph.D

“…Abstract Background Regional recurrence of glottic squamous cell carcinoma was evaluated in patients with a clinically N0 neck who underwent selective…”
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Corrigendum by Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M.M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J.E, Wende, Hagen, Garratt, Alistair N

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Corrigendum by Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M.M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J.E, Wende, Hagen, Garratt, Alistair N

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Corrigendum by Rohde, Elvira, Oonk, Anne M.M, Rocca, Elena, Garratt, Alistair N, Bednarsch, Jan, Feenstra, Ilse, Wende, Hagen, Pennings, Ronald J.E, Ragancokova, Daniela, Schulz, Herbert

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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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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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