Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Hans G. Dauwerse"'
Autor:
Dave van Heusden, Ron T. Gansevoort, Seyed Yahya Anvar, Hans G. Dauwerse, Michael Liem, Monique Losekoot, Dorien J.M. Peters, Daniel M. Borràs, Bart Janssen, Johan T. den Dunnen, Henk P. J. Buermans, Rolf H. A. M. Vossen
Publikováno v:
Human Mutation, 38(7), 870-879. Wiley
Human Mutation
Human Mutation, 38(7), 870-879
Human Mutation
Human Mutation, 38(7), 870-879
A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene with six pseudogenes. Short‐read next‐generation sequencing approaches, such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1b85ac77b4db9252630809f0f60fd8
https://doi.org/10.1002/humu.23223
https://doi.org/10.1002/humu.23223
Autor:
James M. Polke, Jeroen van der Grond, Saskia A J Lesnik Oberstein, Manuel Bernal‐Quiros, Julie W. Rutten, Martine J. van Belzen, Gido Gravesteijn, Hans G. Dauwerse
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 3(11), 844-853
Annals of Clinical and Translational Neurology, 3(11), 844-853
Objective To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. Methods ExAC was queried for mutations distinctive for cerebral autosomal dominant a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eebe83613acc5b5388489581c4fba608
https://hdl.handle.net/1887/112472
https://hdl.handle.net/1887/112472
Autor:
Isabel Cordeiro, Phillip T. Brook-Carter, Douglas R. Higgs, Jim R. Hughes, Lia Spruit, Heloisa Santos, Arjenne L. W. Hesseling-Janssen, C. Ratcliffe, Martijn H. Breuning, Peter C. Harris, Dick Lindhout, S. Verhoef, Dorien J.M. Peters, Jeroen H. Roelfsema, Peter Buckle, Ans M.W. van den Ouweland, Hans G. Dauwerse, Mark Nellist, Magitha M. Maheshwar, Bert Eussen, Belén Peral, Peter Kearney, Bart Janssen, Julian R. Sampson, Jackie Sloane-Stanley, Dicky J. J. Halley, Pedro Cabral, A MacCarthy, Christopher S. Ward, Jasper J. Saris, Vicki Gamble, Siep Thomas
Publikováno v:
ResearcherID
Publons
Publons
textabstractAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. We identified a chromosome translocati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfd60d164a69ff02a8258eb359bd6d5
https://doi.org/10.1016/0092-8674(94)90137-6
https://doi.org/10.1016/0092-8674(94)90137-6
Autor:
Julie W, Rutten, Hans G, Dauwerse, Gido, Gravesteijn, Martine J, van Belzen, Jeroen, van der Grond, James M, Polke, Manuel, Bernal-Quiros, Saskia A J, Lesnik Oberstein
Publikováno v:
Annals of Clinical and Translational Neurology
Objective To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. Methods ExAC was queried for mutations distinctive for cerebral autosomal dominant a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2ac05c0e86c5f17d421f28fa60a05c2
https://pubmed.ncbi.nlm.nih.gov/27844030
https://pubmed.ncbi.nlm.nih.gov/27844030
Autor:
Hanka Venselaar, Dorien J.M. Peters, Annemieke Aartsma-Rus, Andrew Goldfarb, Hans G. Dauwerse, Gert-Jan B. van Ommen, Saskia A J Lesnik Oberstein, Julie W. Rutten, Christof Haffner
Publikováno v:
Brain, 139, 1123-1135
Brain, 139, 1123-35
Brain, 139, Pt 4, pp. 1123-35
Brain, 139, 1123-35
Brain, 139, Pt 4, pp. 1123-35
Contains fulltext : 171788.pdf (Publisher’s version ) (Closed access) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL, is a hereditary cerebral small vessel disease caused by characteristic cys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9afc32e0a9efb786ca3535f75bdd8d
http://hdl.handle.net/1887/113748
http://hdl.handle.net/1887/113748
Autor:
Arn M. J. M. van den Maagdenberg, Annemieke Aartsma-Rus, Saskia A J Lesnik Oberstein, J. Sjef Verbeek, Ludo A. M. Broos, Louise van der Weerd, Hans G. Dauwerse, Cor Breukel, Roselin R. Klever, Dana S. Poole, Julie W. Rutten, Sjoerd G. van Duinen, Ingrid M Hegeman
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, 3
Acta Neuropathologica Communications, 3
Introduction CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39e207269b1a9460f2c28372d94e6b02
https://doi.org/10.1186/s40478-015-0268-1
https://doi.org/10.1186/s40478-015-0268-1
Publikováno v:
Clinical Genetics. 52:173-176
The present paper describes a girl with a small de novo deletion of chromosome 5(q33q34). Fluorescence in situ hybridisation with locus specific probes was used to define the extent of this deletion. Clinical features in this patient are microcephaly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5abe2b4bf3178dbb86837155660d1c8a
https://doi.org/10.1111/j.1399-0004.1997.tb02539.x
https://doi.org/10.1111/j.1399-0004.1997.tb02539.x
Autor:
Wouter N. Leonhard, Hans G. Dauwerse, Bernard A. van Oost, Hans J. Baelde, Irma S. Lantinga-van Leeuwen, Dorien J.M. Peters, Martijn H. Breuning
Publikováno v:
European Journal of Human Genetics. 13:649-659
The PKD1 and PKD2 genes are mutated in patients with autosomal dominant polycystic kidney disease (ADPKD), a systemic disease, with the formation of renal cysts as main clinical feature. The genes are developmentally regulated and aberrant expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cfd5bedbbaf2df9a2978d0f282caa7f
https://doi.org/10.1038/sj.ejhg.5201392
https://doi.org/10.1038/sj.ejhg.5201392
Autor:
Egbert Bakker, George W. Padberg, R.J.L.F. Lemmers, E.L. van der Kooi, M. Wohlgemuth, Hans G. Dauwerse, S.M. van der Maarel, M.J.R. van der Wielen, R.R. Frants, P. G. van Overveld
Publikováno v:
Neurology, 61, 909-13
Neurology, 61, 7, pp. 909-13
Neurology, 61, 7, pp. 909-13
Item does not contain fulltext OBJECTIVE: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4. So far, homozygosity or compound heterozygosity for FSHD alleles has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd59f89b86f73d01ddb684e83ed30f22
https://hdl.handle.net/2066/186385
https://hdl.handle.net/2066/186385
Autor:
Hans G. Dauwerse, Nikos Tripodis, Anita M. Klous, Lucie Boerrigter, Wolter J. Mooi, Claudia A. L. Ruivenkamp, Václav Pačes, Nico van Zandwijk, Gert-Jan B. van Ommen, Gerrit A. Meijjer, Jan H.N. Lindeman, Gert Scholten, Tamás Csikós, Anastassis Perrakis, Peter Demant, Carlo Zanon, Čestmír Vlček, Alphons P. M. Stassen, Peter C. Groot, Tom van Wezel
Publikováno v:
Nature Genetics. 31:295-300
Only a small proportion of cancers result from familial cancer syndromes with Mendelian inheritance. Nonfamilial, 'sporadic' cancers, which represent most cancer cases, also have a significant hereditary component1,2, but the genes involved have low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa7471fa50c6eaeb7f9fa1cd0eddc73
https://doi.org/10.1038/ng903
https://doi.org/10.1038/ng903