Zobrazeno 1 - 10
of 23
pro vyhledávání: '"E Pijkels"'
Publikováno v:
European Journal of Medical Genetics. 52:153-156
The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008b32d996a1f173538eb9508c087880
https://doi.org/10.1016/j.ejmg.2009.02.003
https://doi.org/10.1016/j.ejmg.2009.02.003
Autor:
D Willekens, S Umans, C. E. M. De Die-Smulders, J. P. Fryns, E Pijkels, Eric Legius, H. Van den Berghe, Jean Steyaert
Publikováno v:
Clinical Genetics. 52:135-141
We report data on intelligence and on possibly associated psychopathology in 16 children and adolescents, between 7 and 18 years of age, with congenital or juvenile myotonic dystrophy. We found that all the subjects have an intelligence level below t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6372e7345a2ce4943fbd7dd2a8e318a
https://doi.org/10.1111/j.1399-0004.1997.tb02533.x
https://doi.org/10.1111/j.1399-0004.1997.tb02533.x
Publikováno v:
American Journal of Medical Genetics, 90, 3, pp. 203-215
American Journal of Medical Genetics, 90, 203-215
American Journal of Medical Genetics, 90, 203-215
The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4891137f19f5bf4517c8235da4bae8c8
https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co
Autor:
Joris Vermeesch, Ann Swillen, E Pijkels, Gabriel S. Gebhardt, Marc Gewillig, Koenraad Devriendt, Reinhilde Thoelen, Jeapn-Pierre Fryns
Publikováno v:
European Journal of Human Genetics. 11:109-111
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa469dc24b6a71748c8fb05fe85c448d
https://doi.org/10.1038/sj.ejhg.5200930
https://doi.org/10.1038/sj.ejhg.5200930
Publikováno v:
European journal of medical genetics. 53(5)
Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e45a4b9b4b1c3b35b6d73273b922bb59
https://pubmed.ncbi.nlm.nih.gov/20601260
https://pubmed.ncbi.nlm.nih.gov/20601260
Autor:
E Pijkels, Peter Marynen, Hilde Van Esch, Karen Govaerts, Jürgen Kohlhase, Jelle Verbeeck, Christiane Spaich, Montserrat Milà, Isabel Fernandez, Jean-Pierre Fryns, Guido Froyen, Joke Vandewalle, Irene Madrigal, Anita Rauch, Christiane Zweier
Publikováno v:
American Journal of Human Genetics, 85, 6, pp. 809-22
American Journal of Human Genetics, 85, 809-22
American Journal of Human Genetics, 85, 809-22
We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689f04b154345e16be21fdebe7f6a9d9
https://doi.org/10.1016/j.ajhg.2009.10.019
https://doi.org/10.1016/j.ajhg.2009.10.019
Autor:
L. De Smet, H Van Esch, W.J.M. Van de Ven, Ph. Debeer, C Huysmans, J. P. Fryns, E Pijkels, Koenraad Devriendt
Publikováno v:
European journal of medical genetics. 48(4)
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth finger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a32cff4a31484b356f533e79b4e56f4
https://pubmed.ncbi.nlm.nih.gov/16378922
https://pubmed.ncbi.nlm.nih.gov/16378922
Autor:
G J, Van Buggenhout, C M, Van Ravenswaaij-Arts, W O, Renier, M P, Van de Wiel, J C, Trommelen, E, Pijkels, B C, Hamel, J P, Fryns
Publikováno v:
Genetic counseling (Geneva, Switzerland). 7(3)
We present five patients with the clinical diagnosis of Fountain's syndrome, an autosomal recessive entity with mental retardation, deafness, skeletal abnormalities and coarse face with full lips as cardinal features and review all cases reported so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6d75c46719acaff17b1d60f89556898
https://pubmed.ncbi.nlm.nih.gov/8897038
https://pubmed.ncbi.nlm.nih.gov/8897038
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Akademický článek
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