Výsledky vyhledávání - "B W M van Bon"

Monogenic and chromosomal causes of isolated speech and language impairment

Autor: B W M van Bon, Christopher P. Barnett

Publikováno v: Journal of Medical Genetics, 52, 719-29
Journal of Medical Genetics, 52, 11, pp. 719-29

Contains fulltext : 152492.pdf (Publisher’s version ) (Closed access) The importance of a precise molecular diagnosis for children with intellectual disability, autism spectrum disorder and epilepsy has become widely accepted and genetic testing is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c5d1a285043396815ad9d9b89de198
https://doi.org/10.1136/jmedgenet-2015-103161

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MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Autor: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

Publikováno v: Clinical Genetics. 84:539-545

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9a
https://doi.org/10.1111/cge.12081

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Clinical significance of de novo and inherited copy-number variation

Autor: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers

Publikováno v: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87

Contains fulltext : 125546.pdf (Publisher’s version ) (Open Access) Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNVs remains chal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Publikováno v: Molecular Psychiatry, 21, 126-32
Molecular Psychiatry, 21, 1, pp. 126-32

Contains fulltext : 167733.pdf (Publisher’s version ) (Closed access) Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a majo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5628553dcb2b8f03ce617d5567073bdb
http://hdl.handle.net/20.500.11769/44356

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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

Publikováno v: Molecular Psychiatry, 20, 2, pp. 176-82
Molecular Psychiatry, 20, 176-82

Contains fulltext : 154458.pdf (Publisher’s version ) (Closed access) Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting movement and posture. Its prevalence has changed little in 50 years and the causes remain l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a20af0ae66eae90cb1ec0abe11548d
https://hdl.handle.net/2066/154458

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De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Autor: Han G. Brunner, Hülya Kayserili, Christian R. Marshall, Jamie L. Lohr, Helger G. Yntema, B W M van Bon, Gareth Seaward, Maian Roifman, Hanka Venselaar, R. Silver, T. Paton, David Chitayat, Carlo Marcelis

Publikováno v: Clinical Genetics, 87, 34-41
Clinical Genetics, 87, 1, pp. 34-41

Contains fulltext : 154930.pdf (Publisher’s version ) (Open Access) Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2558d07e5f9d55d47444561cbb1944d
https://pubmed.ncbi.nlm.nih.gov/24716670

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The current and future role of general practitioners in skin cancer care: an assessment of 268 general practitioners

Autor: G.J. van der Wilt, M.C.J. van Rijsingen, A.L.M. Lagro-Janssen, B W M van Bon, Marie-Jeanne P. Gerritsen

Publikováno v: British Journal of Dermatology, 170, 1366-8
British Journal of Dermatology, 170, 6, pp. 1366-8

Item does not contain fulltext BACKGROUND: Given the increase in skin cancer (SC) it seems inevitable that general practitioners (GPs) will play a larger role in SC care in the near future. OBJECTIVES: To obtain insights into the opinion of GPs with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823bd10687f1b56e0742c6ba89213bef
http://hdl.handle.net/2066/136991

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Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

Autor: Sascha Vermeer, B W M van Bon, Carlo M. Marcelis, R. Pfundt, N. de Leeuw, A.P.M. de Brouwer, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries

Publikováno v: Journal of Medical Genetics, 46, 421-3
Journal of Medical Genetics, 46, 6, pp. 421-3

With great interest we read the article of Malan et al , who reported on a novel clinically recognisable 19q13.11 microdeletion syndrome.1 Here we report on a fifth patient with an interstitial deletion overlapping the 19q13.11 region and compare our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b52b6c2b94737ce25516402737c63c
https://doi.org/10.1136/jmg.2009.066910

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