Výsledky vyhledávání - "Margit, Schraders"

Akademický článek

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Autor: Matthew R Avenarius, Jae-Yun Jung, Charles Askew, Sherri M Jones, Kristina L Hunker, Hela Azaiez, Atteeq U Rehman, Margit Schraders, Hossein Najmabadi, Hannie Kremer, Richard J H Smith, Gwenaëlle S G Géléoc, David F Dolan, Yehoash Raphael, David C Kohrman

Publikováno v: PLoS ONE, Vol 13, Iss 8, p e0201713 (2018)

Hearing and balance depend upon the precise morphogenesis and mechanosensory function of stereocilia, the specialized structures on the apical surface of sensory hair cells in the inner ear. Previous studies of Grxcr1 mutant mice indicated a critical

Externí odkaz: https://doaj.org/article/1b9954a009804b34a68d58ca662b8503

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Akademický článek

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Autor: Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e100146 (2014)

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 carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafne

Externí odkaz: https://doaj.org/article/0ff92de14e01459da9c0b5e21e2c36d0

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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

Autor: Ronald J.E. Pennings, Eline van Beelen, Andy J. Beynon, Hannie Kremer, Jaap Oostrik, Jeroen Smits, Cornelis P. Lanting, Patrick L. M. Huygen, N.J.D. Weegerink, Erik de Vrieze, Henricus P. M. Kunst, Margit Schraders

Publikováno v: Otology & Neurotology, 42, e399-e407
Otology & Neurotology, 42, 4, pp. e399-e407

Contains fulltext : 231650.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. STUDY DESIGN: Genotype-phenotype correlation study. Genetic ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9352e3dc3d6692af3f6b9ff24fe08725
https://doi.org/10.1097/MAO.0000000000003004

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Akademický článek

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle cell lymphomas

Autor: Tim Ripperger, Nils von Neuhoff, Kathrin Kamphues, Makito Emura, Ulrich Lehmann, Marcel Tauscher, Margit Schraders, Patricia Groenen, Britta Skawran, Cornelia Rudolph, Evelyne Callet-Bauchu, Johan H.J.M. van Krieken, Brigitte Schlegelberger, Doris Steinemann

Publikováno v: Haematologica, Vol 92, Iss 4 (2007)

Background and Objectives Mantle cell lymphoma (MCL), a mature B-cell neoplasm, is genetically characterized by the translocation t(11;14)(q13;q32). However, secondary alterations are required for malignant transformation. The identification of inact

Externí odkaz: https://doaj.org/article/dfdbf60956a34528b1a109537c6f98f6

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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Publikováno v: European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182

Contains fulltext : 169850.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfd1405b2d7c6f194a52290cfacdd33
https://doi.org/10.1038/ejhg.2016.182

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Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Publikováno v: European Journal of Human Genetics, 24(4), 542-549. Nature Publishing Group
European Journal of Human Genetics, 24, 4, pp. 542-9
European Journal of Human Genetics, 24, 542-9
Eur. J. Hum. Genet. 24, 542-549 (2016)

Contains fulltext : 167996.pdf (Publisher’s version ) (Closed access) Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37edb0591f72ab9fa365cf6705faebef
https://hdl.handle.net/11370/83d9e25f-ae1a-4b58-9f51-3f5071424eaa

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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Publikováno v: Hum. Genet. 137, 389-400 (2018)
Human Genetics, 137(5), 389-400
Human Genetics, 137, 5, pp. 389-400
Human Genetics, 137, 389-400
Human Genetics
Human Genetics, 137(5), 389-400. Springer-Verlag

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68236f8b9eedddeb56a8a14598079b69
https://doi.org/10.1007/s00439-018-1880-5

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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Autor: Vivian Schreur, Margit Schraders, Ilse Feenstra, J.M. van de Kamp, M. J. van den Boogaard, Henricus P. M. Kunst, Mariet W. Elting, Carel B. Hoyng, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Ronald J.C. Admiraal, Andy J. Beynon, Helger G. Yntema, Jaap Oostrik

Publikováno v: Clinical Genetics, 94(2), 221-231. Wiley-Blackwell
Clinical Genetics, 94(2), 221. Wiley-Blackwell
Clinical Genetics, 94, 221-231
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 2018, ' Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy ', Clinical Genetics, vol. 94, no. 2, pp. 221-231 . https://doi.org/10.1111/cge.13368
Clinical Genetics, 94, 2, pp. 221-231

This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6975add814c362d086cf31bd402d7cb
https://doi.org/10.1111/cge.13368

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