Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ellen Vollebregt"'
Autor:
Dieuwke Engelsma, Gert-Jan B. van Ommen, Marjolein Kriek, Margot E. Kalf, Martijn H. Breuning, Johan T. den Dunnen, Bert Bakker, Ellen Vollebregt, Michel P. Villerius, Stefan J. White, Qiang Liu
Publikováno v:
ResearcherID
Duplications and deletions are known to cause a number of genetic disorders, yet technical difficulties and financial considerations mean that screening for these mutations, especially duplications, is often not performed. We have adapted multiplex a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df4df39acdca565c01400a31615af77
Autor:
Egbert Bakker, H. C. van Houwelingen, Ellen Vollebregt, Martijn H. Breuning, R. van den Boom, S. A. J. Lesnik Oberstein, Joost Haan, M.A. van Buchem, M. D. Ferrari
Publikováno v:
Neurology. 57:1066-1070
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts and dementia. Intracerebral hemorrhage (ICH) has been described spora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6792034d4ed91425c984ee32091ac079
https://doi.org/10.1212/wnl.57.6.1066
https://doi.org/10.1212/wnl.57.6.1066
Autor:
Michael K. Liem, Phillis Lakeman, Julie W. Rutten, Johannes G. Dauwerse, Anneke Maat-Kievit, Sjoerd G. van Duinen, Saskia A J Lesnik Oberstein, H.B. Ginjaar, Elles M. J. Boon, Gisela M. Terwindt, Margot J. Pont, Ellen Vollebregt
Publikováno v:
Human Mutation, 34(11), 1486-1489. Wiley-Liss Inc.
Human mutation, 34(11), 1486-1489. Wiley-Liss Inc.
Rutten, J W, Boon, E M J, Liem, M K, Dauwerse, J G, Pont, M J, Vollebregt, E, Maat-Kievit, A J, Ginjaar, H B, Lakeman, P, van Duinen, S G, Terwindt, G M & Oberstein, S A J L 2013, ' Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans ', Human Mutation, vol. 34, no. 11, pp. 1486-1489 . https://doi.org/10.1002/humu.22432
Human Mutation, 34(11), 1486-1489
Human Mutation
Human mutation, 34(11), 1486-1489. Wiley-Liss Inc.
Rutten, J W, Boon, E M J, Liem, M K, Dauwerse, J G, Pont, M J, Vollebregt, E, Maat-Kievit, A J, Ginjaar, H B, Lakeman, P, van Duinen, S G, Terwindt, G M & Oberstein, S A J L 2013, ' Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans ', Human Mutation, vol. 34, no. 11, pp. 1486-1489 . https://doi.org/10.1002/humu.22432
Human Mutation, 34(11), 1486-1489
Human Mutation
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by stereotyped missense mutations in NOTCH3. Whether these mutations lead to the CADASIL phenotype via a neomorphic effect, or rather by a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3971b322fc5acc074446838e75ece9a3
https://hdl.handle.net/1887/101527
https://hdl.handle.net/1887/101527
Autor:
Usha Kini, Sheela Nampoothiri, Marjolijn C.J. Jongmans, Denise Horn, Gijs W. E. Santen, Emmelien Aten, M. S Mancini Grazia, Ruth Newbury-Ecob, Elizabeth Sweeney, Merel W. Boogaard, Helen Kingston, Amanda L. Collins, Tjitske Kleefstra, Christian A.C. Van der Lans, Albertien M. van Eerde, Alice Gardham, Shane McKee, Miranda Splitt, Debbie Shears, Michael J. Parker, Victoria Harrison, Natalie Canham, Saskia M. Maas, Marjolein Kriek, Martijn H. Breuning, Nancy Kramer, Leigh Anne Flore, Gozde Yesil, Luis A. Pérez-Jurado, John M. Graham, Katherine Berry, Louise Brueton, Krystyna H. Chrzanowska, I. Karen Temple, Odile Boute, M. J Ellen Vollebregt, Bert B.A. de Vries, Jill Clayton-Smith, Beyhan Tüysüz, Patrícia Maciel, Johan T. den Dunnen, Caroline Pottinger, Ronelle Snowdowne, Robert Smigiel, Mafalda Barbosa, Isabelle Maystadt, May Tassabehji, Alan Fryer, Martine J. van Belzen, Louise C. Wilson, Margherita Silengo, Helen Stewart, Mariam Almureikhi, Anneke T. Vulto-van Silfhout, Ineke van der Burgt, Seema Kapoor, Catherine Vincent-Delorme, Caroline Rooryck, Tawfeg Ben-Omran, Michiel J R van der Wielen, Nicolette S. den Hollander, John Dean, Stefania Bigoni, Jeff M. Milunsky, Bregje W.M. van Bon, Sarah M. Nikkel, Arie van Haeringen, Gabriela Soares, Ankur Singh, Raoul C.M. Hennekam, Sarina G. Kant, Alexander Hoischen, Margot M L Linssen, Stephen P. Robertson, Anwar Baban, Dragana Josifova, Krajewska-Walasek Malgorzata Krajewska-Walasek, Teresa De Toni, Kate Chandler, Ivonne J H M van Minderhout, Linda Vijfhuizen
Publikováno v:
Human Mutation, 34, 11, pp. 1519-28
Human Mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Human Mutation, 34(11), 1519-1528
Human mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 34, 1519-28
Human Mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Human Mutation, 34(11), 1519-1528
Human mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 34, 1519-28
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a6b2b51360017e10426003c97b9ec2
https://doi.org/10.1002/humu.22394
https://doi.org/10.1002/humu.22394