Zobrazeno 1 - 10
of 15
pro vyhledávání: '"L C P Govaerts"'
Autor:
Eline M. Bunnik, Maarten F. C. M. Knapen, D. Van Opstal, L. C. P. Govaerts, M. Joosten, J. Verhagen-Visser, Robert-Jan H. Galjaard, M. I. Srebniak, Marike Polak, S. L. van der Steen, Attie T.J.I. Go, Karin E. M. Diderich, Aad Tibben, S. R. Riedijk
Publikováno v:
Journal of Genetic Counseling
Journal of Genetic Counseling, 27(1), 85-94. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling, 27(1), 85-94
Journal of Genetic Counseling, 27(1), 85-94. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling, 27(1), 85-94
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbde51bde193233e41557f057aadcd96
https://pubmed.ncbi.nlm.nih.gov/28674770
https://pubmed.ncbi.nlm.nih.gov/28674770
Autor:
A. Van der Linden, L. C. P. Govaerts, R. S. Van Der Giessen, Sebastiaan K. E. Koekkoek, Maaike C E Jansweijer, G.C. Lagers-van Haselen, C. I. De Zeeuw, S.S. Thorgeirsson, Maarten A. Frens, I.F.M. de Coo, Casper C. Hoogenraad, H.J. Eussen, Carine Wouters, J M van Hagen, N. Van Camp, J.N. van der Geest, Johan J.P. Gille
Publikováno v:
Neurobiology of Disease, 26(1), 112-124. Academic Press
Neurobiology of disease
Neurobiology of Disease, Vol 26, Iss 1, Pp 112-124 (2007)
van Hagen, J M, van der Geest, J N, van der Giessen, R S, Lagers-van Haselen, G C, Eussen, H J F M M, Gille, J J P, Govaerts, L C P, Wouters, C H, de Coo, I F M, Hoogenraad, C C, Koekkoek, S K E, Frens, M A, van Camp, N, van der Linden, A, Jansweijer, M C E, Thorgeirsson, S S & De Zeeuw, C I 2007, ' Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome ', Neurobiology of Disease, vol. 26, no. 1, pp. 112-24 . https://doi.org/10.1016/j.nbd.2006.12.009
Neurobiology of Disease, 26(1), 112-24. Academic Press Inc.
Neurobiology of disease
Neurobiology of Disease, Vol 26, Iss 1, Pp 112-124 (2007)
van Hagen, J M, van der Geest, J N, van der Giessen, R S, Lagers-van Haselen, G C, Eussen, H J F M M, Gille, J J P, Govaerts, L C P, Wouters, C H, de Coo, I F M, Hoogenraad, C C, Koekkoek, S K E, Frens, M A, van Camp, N, van der Linden, A, Jansweijer, M C E, Thorgeirsson, S S & De Zeeuw, C I 2007, ' Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome ', Neurobiology of Disease, vol. 26, no. 1, pp. 112-24 . https://doi.org/10.1016/j.nbd.2006.12.009
Neurobiology of Disease, 26(1), 112-24. Academic Press Inc.
Williams Syndrome (WS, [MIM 194050]) is a disorder caused by a hemizygous deletion of 25-30 genes on chromosome 7q11.23. Several of these genes including those encoding cytoplasmic linker protein-115 (CYLN2) and general transcription factors (GTF2I a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122204a1f70b7e2739592842808e287c
https://doi.org/10.1016/j.nbd.2006.12.009
https://doi.org/10.1016/j.nbd.2006.12.009
Autor:
Eli Brenner, J.N. van der Geest, L. C. P. Govaerts, Maarten A. Frens, J M van Hagen, G.C. Lagers-van Haselen, I.F.M. de Coo
Publikováno v:
Experimental Brain Research, 166(2), 200-209. Springer-Verlag
Patients with Williams-Beuren Syndrome (WBS, also known as Williams Syndrome) show many problems in motor activities requiring visuo-motor integration, such as walking stairs. We tested to what extent these problems might be related to a deficit in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01dfcb9df023860fee3b23918299e33
https://hdl.handle.net/1765/65004
https://hdl.handle.net/1765/65004
Autor:
M I, Srebniak, D, Van Opstal, M, Joosten, K E M, Diderich, F A T, de Vries, S, Riedijk, M F C M, Knapen, A T J I, Go, L C P, Govaerts, R-J H, Galjaard
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 45(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::007cfcaae2a3450f547c0821a45d42d9
https://pubmed.ncbi.nlm.nih.gov/25488734
https://pubmed.ncbi.nlm.nih.gov/25488734
Autor:
S L Van Der Steen, K E M Diderich, S R Riedijk, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, F A T De Vries, Opstal, Van, M I Srebniak, A Tibben, R J H Galjaard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c201fedb2cbf0492ac529df0869eb35
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 43(2)
To establish the prevalence of submicroscopic genetic copy number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one anatomical system) and a normal karyotype. The aim was to determine the diagnostic and prognostic val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::69474691c18e5b8d46735da827765bd3
https://pubmed.ncbi.nlm.nih.gov/23897843
https://pubmed.ncbi.nlm.nih.gov/23897843
Autor:
E W M, Grijseels, P T M Echteld, van-Hornstra, L C P, Govaerts, T E, Cohen-Overbeek, R R, de Krijger, B J, Smit, K, Cransberg
Publikováno v:
Prenatal diagnosis. 31(11)
To evaluate the outcome of fetuses with oligohydramnios due to kidney anomalies.A retrospective study was performed of all pregnancies diagnosed with oligohydramnios and associated kidney anomalies during the period 2000-2008. Outcome included pregna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70a44a012d2dcdc54171ee426efdc5d0
https://pubmed.ncbi.nlm.nih.gov/21755519
https://pubmed.ncbi.nlm.nih.gov/21755519
Autor:
A. J. M. Hoogeboom, L. C. P. Govaerts
Publikováno v:
Het pediatrisch formularium ISBN: 9789031368556
Bij 3% van de pasgeborenen is er sprake van een meer of minder ernstige verstandelijke en/of lichamelijke handicap, die tot medische interventie in de eerste levensjaren zal leiden. Sommige aandoeningen worden kort na de geboorte gediagnosticeerd, zo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd3fce4a18d88692cbf840979e43945f
https://doi.org/10.1007/978-90-313-6862-4_8
https://doi.org/10.1007/978-90-313-6862-4_8
Autor:
J.N. van der Geest, C. I. De Zeeuw, L. C. P. Govaerts, M. Vellema, Albertine Ellen Smit, Ben A. Oostra, Rob Willemsen, Frans VanderWerf, Sebastiaan K. E. Koekkoek
Publikováno v:
Genes, brain and behavior
Genes Brain and Behavior, 7(7), 770-777. Wiley-Blackwell Publishing Ltd
Genes, Brain, and Behavior
Genes Brain and Behavior, 7(7), 770-777. Wiley-Blackwell Publishing Ltd
Genes, Brain, and Behavior
The fragile X syndrome (FRAXA) is the most widespread heritable form of mental retardation caused by the lack of expression of the fragile X mental retardation protein (FMRP). This lack has been related to deficits in cerebellum-mediated acquisition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c79c8c636e747dbb6d371be2d2b3f5a
https://hdl.handle.net/10067/1026070151162165141
https://hdl.handle.net/10067/1026070151162165141
Autor:
Rob Willemsen, L. C. P. Govaerts, Cathy E. Bakker, Albertine Ellen Smit, J J Saris, Frans VanderWerf, Ben A. Oostra, C. I. De Zeeuw
Publikováno v:
Clinical Genetics, 72(2), 138-144. Wiley-Blackwell Publishing Ltd
Fragile X (FRAX) syndrome is a commonly inherited form of mental retardation resulting from the lack of expression of the fragile X mental retardation protein (FMRP). It is caused by a stretch of CGG repeats within the fragile X gene, which can be un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d8f3023f64efb75d2ee8257946907e
https://pubmed.ncbi.nlm.nih.gov/17661818
https://pubmed.ncbi.nlm.nih.gov/17661818