Zobrazeno 1 - 10
of 69
pro vyhledávání: '"D J J, Halley"'
Autor:
A. M. W. Van Den Ouweland, Joan N.R. Kromosoeto, Caroline Withagen-Hermans, R. van Minkelen, Y. van Bever, D. J. J. Halley, A. Nieuwlaat
Publikováno v:
Clinical Genetics. 85:318-327
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. This re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9bd8398e0d4e68f74e9a25e2b4933a6
https://doi.org/10.1111/cge.12187
https://doi.org/10.1111/cge.12187
Autor:
A. M. W. Van Den Ouweland, Anneke Maat-Kievit, D.M. van der Kolk, Bernard A. Zonnenberg, Eric Smeets, P. Cohn-Hokke, D. J. J. Halley, Marianne Hoogeveen-Westerveld, Mark Nellist, T. van Essen, Marjolein Wentink, G. Woods, W. Brussel, S-M Park, Alice S. Brooks
Publikováno v:
Wentink, M, Nellist, M, Hoogeveen-Westerveld, M, Zonnenberg, B, van der Kolk, D, van Essen, T, Park, S M, Woods, G, Hokke, P E, Brussel, W, Smeets, E, Brooks, A, Halley, D, van den Ouweland, A & Maat-Kievit, A 2012, ' Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds ', Clinical Genetics, vol. 81, no. 5, pp. 453-461 . https://doi.org/10.1111/j.1399-0004.2011.01648.x
Clinical Genetics, 81(5), 453-461. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 81(5), 453-461. Wiley
Clinical genetics, 81(5), 453-461. Wiley-Blackwell
Clinical Genetics, 81(5), 453-461. Wiley-Blackwell
Clinical Genetics, 81(5), 453-461. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 81(5), 453-461. Wiley
Clinical genetics, 81(5), 453-461. Wiley-Blackwell
Clinical Genetics, 81(5), 453-461. Wiley-Blackwell
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. Overall, TSC2 mutations are associated with a mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06d87b9c16bb775853dc5c33d534b1d
https://doi.org/10.1111/j.1399-0004.2011.01648.x
https://doi.org/10.1111/j.1399-0004.2011.01648.x
Autor:
M E van Leerdam, Dennis Dooijes, W. Dinjens, Ewout W. Steyerberg, Anja Wagner, E. J. Kuipers, D J J Halley, Dewkoemar Ramsoekh
Publikováno v:
Gut, 57(11), 1539-1544. BMJ Publishing Group
Background and aims: In Lynch syndrome, the clinical phenotype in MSH6 mutation families differs from that in MLH1 and MSH2 families. Therefore, MSH6 mutation families are less likely to fulfil diagnostic criteria such as the Amsterdam II criteria (A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336c8364aa2e98f915ac3726431cdf04
https://hdl.handle.net/1765/14473
https://hdl.handle.net/1765/14473
Autor:
A. Jennekens-Schinkel, O. Braams, Mark Nellist, A. C. van Huffelen, D. J. J. Halley, Koen L. Vincken, Friso Jansen, B. A. Zonnenberg, P. Anbeek, A. M. W. Van Den Ouweland, A. Algra, O. van Nieuwenhuizen
Publikováno v:
Neurology, 70(12), 908-915. Lippincott Williams & Wilkins
Objective: The purpose of this study was to systematically analyze the associations between different TSC1 and TSC2 mutations and the neurologic and cognitive phenotype in patients with tuberous sclerosis complex (TSC). Methods: Mutation analysis was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2837f1bac9c18e60cbd7f81e8fb3a36
https://doi.org/10.1212/01.wnl.0000280578.99900.96
https://doi.org/10.1212/01.wnl.0000280578.99900.96
Autor:
Anneke Maat-Kievit, Mark Nellist, Bert Eussen, M.M. van Veghel-Plandsoen, A. M. W. Van Den Ouweland, Miriam Goedbloed, Ozgur Sancak, A. De Klein, D. J. J. Halley, Dick Lindhout
Publikováno v:
Genetic Testing, 9(3), 226-230. Mary Ann Liebert Inc.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a509a8ea8c4f73960b2a73eda2393228
https://doi.org/10.1089/gte.2005.9.226
https://doi.org/10.1089/gte.2005.9.226
Autor:
D. J. J. Halley, Paul Boon, Dick Lindhout, Ehjf Boezeman, Carton D, W Vandereycken, MG Van Erp, G-J De Haan, Jorine Witte, Dalila Pinto, Edward S. Peters, Bobby P. C. Koeleman, Adri J. Bader
Publikováno v:
Human Genetics. 117:294-302
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f286ab12518c6d099e60621db25a291f
https://doi.org/10.1007/s00439-005-1329-5
https://doi.org/10.1007/s00439-005-1329-5
Autor:
M.H.E.C. Pieters, R. F. A. Weber, Gert R. Dohle, Lutgarde C.P. Govaerts, A.M.W. van den Ouwel, D. J. J. Halley, J. O. Van Hemel
Publikováno v:
Human Reproduction. 17:13-16
BACKGROUND: Male infertility due to severe oligozoospermia and azoospermia has been associated with a number of genetic risk factors. METHODS: In this study 150 men from couples requesting ICSI were investigated for genetic abnormalities, such as con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d276741268b773ccf3a5081a5cf68ba
https://doi.org/10.1093/humrep/17.1.13
https://doi.org/10.1093/humrep/17.1.13
Autor:
Martinus F. Niermeijer, Hanne Meijers-Heijboer, Mma Tilanus-Linthorst, M.M. van Veghel-Plandsoen, Anja Wagner, L.C. Verhoog, A. M. W. Van Den Ouweland, I. L. Van Staveren, D. J. J. Halley, Caroline Seynaeve, C.C.M. Bartels, E. Berns, Peter Devilee, J. G. M. Klijn
Publikováno v:
European Journal of Cancer, 37, 2082-2090. Elsevier Ltd.
European journal of cancer (Oxford, England, 37(16), 2082-2090. Elsevier Limited
European journal of cancer (Oxford, England, 37(16), 2082-2090. Elsevier Limited
In 517 Dutch families at a family cancer clinic, we screened for BRCA1/2 alterations using the Protein Truncation Test (PTT) covering approximately 60% of the coding sequences of both genes and direct testing for a number of previously identified Dut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c821bb9fb550b5ee0736353c3171ad17
https://doi.org/10.1016/s0959-8049(01)00244-1
https://doi.org/10.1016/s0959-8049(01)00244-1
Autor:
D. J. J. Halley, I.F.M. de Coo, Johan M. Kros, M. C. Y. de Wit, G.M.S. Mancini, B.C. (Bart) Jacobs, Robert M. Verdijk
Publikováno v:
Journal of Neurology Neurosurgery and Psychiatry, 80(4), 426-428. BMJ Publishing Group
Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. The patient, a 71-year-old woman, wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c8dd327c2f3331bfcbc634ca64b6fe
https://hdl.handle.net/1765/24908
https://hdl.handle.net/1765/24908
Autor:
C.W. Rouwé, C Rodrigues, Martinus F. Niermeijer, M.A. de Vroede, P.E. de Ruiter, Sls Drop, D. J. J. Halley, H.A. Delemarre-van de Waal, Berenice B. Mendonca, Hülya Kayserili, Stefan Andersson, B.J. Otten, H. Bode, Albert O. Brinkmann, F. H. De Jong, Alm Boehmer, Lodewijk A. Sandkuijl
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 84:4713-4721
17β-Hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene. In a nationwide study on male pseudohermaphroditism among all pediatric endocrinologists a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2bfde3b09713b3e7769539b274bd7510
https://doi.org/10.1210/jcem.84.12.6174
https://doi.org/10.1210/jcem.84.12.6174