Search Results - "Kunst, H P M"

Genotype-Specific Differences in the Tumor Metabolite Profile of Pheochromocytoma and Paraganglioma Using Untargeted and Targeted Metabolomics by Rao, J. U, Engelke, U. F. H, Sweep, F. C. G. J, Pacak, K, Kusters, B, Goudswaard, A. G, Hermus, A. R. M. M, Mensenkamp, A. R, Eisenhofer, G, Qin, N, Richter, S, Kunst, H. P. M, Timmers, H. J. L. M, Wevers, R. A

“…Context and Objective: Pheochromocytomas and paragangliomas (PGLs) are neuroendocrine tumors of sympathetic or parasympathetic paraganglia. Nearly 40% of PGLs…”
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Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome by Freriks, Kim, Timmermans, Janneke, Beerendonk, Catharina C. M, Verhaak, Chris M, Netea-Maier, Romana T, Otten, Barto J, Braat, Didi D. M, Smeets, Dominique F. C. M, Kunst, Dirk H. P. M, Hermus, Ad R. M. M, Timmers, Henri J. L. M

“…Context: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life…”
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Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference by Oonk, A.M.M., Huygen, P.L.M., Kunst, H.P.M., Kremer, H., Pennings, R.J.E.

“…Objective Non‐syndromic sensorineural hearing impairment is inherited in an autosomal recessive fashion in 75–85% of cases. To date, 61 genes with this type of…”
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Patients with Pendred syndrome: is cochlear implantation beneficial? by van Nierop, J.W.I., Huinck, W.J., Pennings, R.J.E., Admiraal, R.J.C., Mylanus, E.A.M., Kunst, H.P.M.

“…Objective To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. Design Retrospective study. Setting Tertiary centre. Participants…”
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Ear and hearing problems in relation to karyotype in children with Turner syndrome by Verver, E.J.J., Freriks, K., Thomeer, H.G.X.M., Huygen, P.L.M., Pennings, R.J.E., Alfen-van der Velden, A.A.E.M., Timmers, H.J., Otten, B.J., Cremers, C.W.R.J., Kunst, H.P.M.

“…The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to…”
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Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family by Weegerink, N.J.D., Huygen, P.L.M., Schraders, M., Kremer, H., Pennings, R.J.E., Kunst, H.P.M.

“…Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene. Sixty family members participated in…”
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Audiometric characteristics of a Dutch family with Muckle-Wells syndrome by Weegerink, N.J.D., Schraders, M., Leijendeckers, J., Slieker, K., Huygen, P.L.M., Hoefsloot, L., Oostrik, J., Pennings, R.J.E., Simon, A., Snik, A., Kremer, H., Kunst, H.P.M.

“…Description of the audiometric and vestibular characteristics of a Dutch family with Muckle-Wells syndrome (MWS). Examination of all family members consisted…”
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The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers by Rijken, J.A., Niemeijer, N.D., Jonker, M.A., Eijkelenkamp, K., Jansen, J.C., van Berkel, A., Timmers, H.J.L.M, Kunst, H.P.M., Bisschop, P.H.L.T., Kerstens, M.N., Dreijerink, K.M.A., van Dooren, M.F., van der Horst‐Schrivers, A.N.A., Hes, F.J., Leemans, C.R., Corssmit, E.P.M., Hensen, E.F.

“…Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or…”
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Facial emotion detection in Vestibular Schwannoma patients with and without facial paresis by Blom, Stephanie S.A.H., Aarts, Henk, Kunst, H.P.M., Wever, Capi C., Semin, Gün R.

“…This study investigates whether there exist differences in facial emotion detection accuracy in patients suffering from Vestibular Schwannoma (VS) due to their…”
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Results of a systematic literature review of treatment modalities for jugulotympanic paraganglioma, stratified per Fisch class by Jansen, T.T.G., Timmers, H.J.L.M., Marres, H.A.M., Kaanders, J.H.A.M., Kunst, H.P.M.

“…Objective Key for successful jugulotympanic paraganglioma management is a personalised approach aiming for the best practice for each individual patient. To…”
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Genotype phenotype correlations for hearing impairment: Approaches to management by Hoefsloot, L. H., Feenstra, I., Kunst, H. P. M., Kremer, H.

“…Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in…”
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Diagnostic accuracy of high‐resolution T2‐weighted MRI vs contrast‐enhanced T1‐weighted MRI to screen for cerebellopontine angle lesions in symptomatic patients by Hentschel, M.A., Kunst, H.P.M., Rovers, M.M., Steens, S.C.A.

“…Objective To evaluate diagnostic accuracy of high‐resolution T2‐weighted MRI (T2w) for detecting cerebellopontine angle (CPA) lesions compared to a combined…”
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A meta‐analysis on the surgical management of paraganglioma of the carotid body per Shamblin class by Jansen, T.T.G., Marres, H.A.M., Kaanders, J.H.A.M., Kunst, H.P.M.

“…Objective The aim of this study was to evaluate the risk associated with different types of surgery for carotid body paraganglioma of different Shamblin class…”
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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy by Wesdorp, M., Schreur, V., Beynon, A.J., Oostrik, J., van de Kamp, J.M., Elting, M.W., van den Boogaard, M.‐J.H., Feenstra, I., Admiraal, R.J.C., Kunst, H.P.M., Hoyng, C.B., Kremer, H., Yntema, H.G., Pennings, R.J.E., Schraders, M.

“…This study focuses on further characterization of the audiovestibular phenotype and on genotype‐phenotype correlations of DFNB77, an autosomal recessive type…”
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Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa by Hartel, B.P., Agterberg, M.J.H., Snik, A.F., Kunst, H.P.M., Opstal, A.J., Bosman, A.J., Pennings, R.J.E.

“…Objectives Usher syndrome is the leading cause of hereditary deaf‐blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young…”
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Psychological impact of a genetic diagnosis on hearing impairment—An exploratory study by Oonk, A.M.M., Ariens, S., Kunst, H.P.M., Admiraal, R.J.C., Kremer, H., Pennings, R.J.E.

“…Objective Genetic testing for hereditary hearing impairment has become more routinely available as a diagnostic tool in the outpatient clinic. However, little…”
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Vestibular function and temporal bone imaging in DFNB1 by Oonk, A.M.M., Beynon, A.J., Peters, T.A., Kunst, H.P.M., Admiraal, R.J.C., Kremer, H., Verbist, B., Pennings, R.J.E.

“…DFNB1 is the most prevalent type of hereditary hearing impairment known nowadays and the audiometric phenotype is very heterogeneous. There is, however, no…”
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Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis by Oonk, A.M.M., Leijendeckers, J.M., Lammers, E.M., Weegerink, N.J.D., Oostrik, J., Beynon, A.J., Huygen, P.L.M., Kunst, H.P.M., Kremer, H., Snik, A.F.M., Pennings, R.J.E.

“…Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and…”
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A database system for the registration of complications and failures in cochlear implant surgery applied to over 1000 implantations performed in Nijmegen, The Netherlands by Theunisse, H J, Mulder, J J, Pennings, R J E, Kunst, H P M, Mylanus, E A M

“…To create a system for the uniform registration and classification of complications and failures in cochlear implant surgery, and apply it to all the patients…”
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Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2) by van Beelen, E., Leijendeckers, J.M., Huygen, P.L.M., Admiraal, R.J.C., Hoefsloot, L.H., Lichtenbelt, K.D., Stöbe, L., Pennings, R.J.E., Leuwer, R., Snik, A.F.M., Kunst, H.P.M.

“…To evaluate hearing impairment and cochlear function in non-ocular Stickler syndrome. Multifamily study. Ten patients from two different families with…”
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