Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Bas P Hartel"'
Autor:
Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In general, mut
Externí odkaz:
https://doaj.org/article/630403874b684cdf82cd8b7633db40fd
Autor:
Wendy J. Huinck, Ronald J.E. Pennings, Liselotte J. C. Rotteveel, Josephine W. I. van Nierop, Bas P. Hartel, Emmanuel A. M. Mylanus, Ad F. M. Snik, Henricus P. M. Kunst
Publikováno v:
Otology & Neurotology, 38, 6, pp. e120-e127
Otology & Neurotology, 38, e120-e127
Otology & Neurotology, 38, e120-e127
Item does not contain fulltext OBJECTIVES: Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. Hearing rehabilitation starts in early childhood with the application of hearing
Autor:
Ad F. M. Snik, Arjan J. Bosman, Martijn J.H. Agterberg, Ronald J.E. Pennings, A. J. Van Opstal, Bas P. Hartel, Henricus P. M. Kunst
Publikováno v:
Clinical Otolaryngology
Clinical Otolaryngology, 42, 805-814
Clinical Otolaryngology, 42, 4, pp. 805-814
Clinical Otolaryngology, 42, 805-814
Clinical Otolaryngology, 42, 4, pp. 805-814
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 age. A serious complaint refers to interference between sound localisation abilities and ada
Autor:
Michelle M. van Rossum, Andy J. Beynon, Vitória Piai, Ilse Feenstra, Liselotte J. C. Rotteveel, Stefan H. Lelieveld, Berit M. Verbist, Ronald J.E. Pennings, Mieke Wesdorp, Marieke F. van Dooren, Hannie Kremer, Martijn A. Huynen, Laurens Wiel, Pia A. M. de Koning Gans, Hanka Venselaar, Ronald J.C. Admiraal, Henricus P. M. Kunst, Margit Schraders, Judith van Gaalen, Peter Lichtner, Helger G. Yntema, Nicol C. Voermans, Jaap Oostrik, Bas P. Hartel, Lies H. Hoefsloot
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
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
https://doi.org/10.1007/s00439-018-1880-5
Autor:
Adelaida M. Celaya, Helger G. Yntema, Suzanne E. de Bruijn, Kees Okkersen, Jaap Oostrik, H. Kremer, Elisabeth H. Hoefsloot, R.J. Stokroos, Erwin van Wijk, Nicol C. Voermans, Stefan H. Lelieveld, H.H.W. de Gier, Theo A. Peters, Henricus P. M. Kunst, M.F. van Dooren, Elena Gómez-Rosas, Carel B. Hoyng, S.G.M. Frints, Ronald J.C. Admiraal, I. Feenstra, Rolien Free, Andy J. Beynon, Hans J. P. M. Koenen, Ilse Feenstra, Isabel Varela-Nieto, A. J. van Essen, Peter Lichtner, L.J.C. Rotteveel, M.P. van der Schroeff, Margit Schraders, Jack Weeda, Ignacio del Castillo, S.G. Kant, J.R. Hof, R.J.E. Pennings, Els K. Vanhoutte, H.G. Yntema, R.J.C. Admiraal, Irma Joosten, Pau Serra, Silvia Murillo-Cuesta, Ronald J.E. Pennings, Mieke Wesdorp, Bas P. Hartel, Hannie Kremer, J.S. Klein-Wassink, Anne M.M. Oonk
Publikováno v:
American Journal of Human Genetics, 103, 1, pp. 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88
DOOFNL Consortium.
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aadc6a478e47e48d111ca93d814a2c9
https://hdl.handle.net/2066/194354
https://hdl.handle.net/2066/194354
Autor:
Gema García-García, Ronald J.E. Pennings, Christel Vaché, Radulfus Wn Slijkerman, Mireille Claustres, Hannie Kremer, Erwin van Wijk, Alejandro Garanto, Elena Aller, Bas P. Hartel, Anne-Françoise Roux, Lisette Hetterschijt, Margo Dona, José M. Millán, Theo A. Peters, Rob W.J. Collin
Publikováno v:
Molecular Therapy-Nucleic Acids, 5, e381
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Molecular Therapy-Nucleic Acids, 5, 10, pp. e381
Molecular Therapy-Nucleic Acids
Molecular Therapy-Nucleic Acids, Elsevier, 2016, 5, pp.e381. ⟨10.1038/mtna.2016.89⟩
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Molecular Therapy-Nucleic Acids, 5, 10, pp. e381
Molecular Therapy-Nucleic Acids
Molecular Therapy-Nucleic Acids, Elsevier, 2016, 5, pp.e381. ⟨10.1038/mtna.2016.89⟩
Contains fulltext : 168161.pdf (Publisher’s version ) (Open Access) Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear impl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22759b28d06c2a8083b015d1ed0e75aa
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/168161
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/168161
Autor:
Hannie Kremer, Lisbeth Tranebjærg, Andre Sadeghi, Maria Löfgren, Erwin van Wijk, Iris Guchelaar, Cor W. R. J. Cremers, Bas P. Hartel, William J. Kimberling, Nicole Lo-A-Njoe Kort, Patrick L. M. Huygen, Claes Möller, Ronald J.E. Pennings
Publikováno v:
Hearing Research, 339, pp. 60-8
Hearing Research, 339, 60-8
Hearing Research, 339, 60-8
Contains fulltext : 167662.pdf (Publisher’s version ) (Closed access) OBJECTIVES: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d450b40ec92d461d14e0e2202dea4df
https://hdl.handle.net/2066/167662
https://hdl.handle.net/2066/167662
Publikováno v:
Otology & Neurotology, 37, 5, pp. 608
Otology & Neurotology, 37, 608
Otology & Neurotology, 37, 608
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d1ba5a88ed6dc9f537d4b18ec97d8d
https://hdl.handle.net/2066/167674
https://hdl.handle.net/2066/167674
Autor:
Bas P. Hartel, Laurence H M Pierrache, Mary J. van Schooneveld, Ronald J.E. Pennings, Julie De Zaeytijd, Caroline C W Klaver, Carel B. Hoyng, Bart P. Leroy, L. Ingeborgh van den Born, Magda A. Meester-Smoor, Frans P.M. Cremers, Cor W. R. J. Cremers, Erwin van Wijk, Arthur A.B. Bergen, Gislin Dagnelie, Elfride De Baere
Publikováno v:
Ophthalmology, 123, 1151-60
Ophthalmology, 123, 5, pp. 1151-60
Ophthalmology, 123(5), 1151-60. Elsevier B.V.
Ophthalmology, 123(5), 1151-1160. Elsevier Inc.
Ophthalmology, 123, 5, pp. 1151-60
Ophthalmology, 123(5), 1151-60. Elsevier B.V.
Ophthalmology, 123(5), 1151-1160. Elsevier Inc.
Item does not contain fulltext PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f97acd04ec33dc5fab29d7b77611168a
http://hdl.handle.net/2066/168265
http://hdl.handle.net/2066/168265