Zobrazeno 1 - 10
of 722
pro vyhledávání: '"Fryns Jean-Pierre"'
Autor:
Robberecht Caroline, Voet Thierry, Utine Gülen E, Schinzel Albert, de Leeuw Nicole, Fryns Jean-Pierre, Vermeesch Joris
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 19 (2012)
Abstract Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the
Externí odkaz:
https://doaj.org/article/8f775cedf7b04b3085933d3596b7610f
Autor:
Debiec-Rychter Maria, Sciot Raf, Bowers Naomi, Van Calenbergh Frank, Evans Gareth D, de Cock Paul, Brems Hilde, Denayer Ellen, Vermeesch Joris V, Fryns Jean-Pierre, Legius Eric
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 97 (2009)
Abstract Background Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogene
Externí odkaz:
https://doaj.org/article/6a01ba24aed24e49885d00375788debe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 1, Iss 1, p 26 (2006)
Abstract The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome i
Externí odkaz:
https://doaj.org/article/f116b2394b324ee6b9512a6d0a96244f
Autor:
Fryns Jean-Pierre, Vogels Annick
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 1, Iss 1, p 19 (2006)
Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe
Externí odkaz:
https://doaj.org/article/174ef4029f7a43a9ac1e1b268a6ab2db
Autor:
Cosemans, Nele, Vandenhove, Laura, Maljaars, Jarymke, Van Esch, Hilde, Devriendt, Koenraad, Baldwin, Amanda, Fryns, Jean-Pierre, Noens, Ilse, Peeters, Hilde
Publikováno v:
In European Journal of Medical Genetics July 2018 61(7):376-383
Autor:
Balikova, Irina, de Ravel, Thomy, Ayuso, Carmen, Thienpont, Bernard, Casteels, Ingele, Villaverde, Cristina, Devriendt, Koenraad, Fryns, Jean-Pierre, Vermeesch, Joris Robert
Publikováno v:
In American Journal of Ophthalmology June 2011 151(6):1087-1094
Publikováno v:
In European Journal of Medical Genetics 2009 52(2):153-156
Autor:
Bailleul-Forestier, Isabelle, Berdal, Ariane, Vinckier, Frans, de Ravel, Thomy, Fryns, Jean Pierre, Verloes, Alain
Publikováno v:
In European Journal of Medical Genetics 2008 51(5):383-408
Publikováno v:
In Journal of Communication Disorders 2004 37(1):21-33
Publikováno v:
In Annales de genetique 2004 47(3):275-280