Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jan E. Dumon"'
Autor:
L Vits, Jan Wauters, K L Stuer, P. J. Willems, B. Van der Auwera, L van Schil, Paul Coucke, Jan Hendrickx, Jan E. Dumon, A Van Elsen
Publikováno v:
Clinical Genetics. 39:89-92
Cloning and sequencing of the CF gene has identified a three-base-pair deletion (delta F508) responsible for CF in the majority of CF patients (Kerem et al. 1989). We have used the polymerase chain reaction with oligonucleotide primers bridging the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6606ebe173d64a2ae68a752de00b0669
https://doi.org/10.1111/j.1399-0004.1991.tb02992.x
https://doi.org/10.1111/j.1399-0004.1991.tb02992.x
Publikováno v:
American Journal of Medical Genetics. 43:877-881
We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was spars
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22fcb6957cc990a6966caca9d308cce
https://doi.org/10.1002/ajmg.1320430525
https://doi.org/10.1002/ajmg.1320430525
Autor:
L Vits, Kristel De Boulle, Ben A. Oostra, Annemieke J.M.H. Verkerk, Patrick Willems, Edwin Reyniers, Olivia Beck, Bernadette Van Roy, Jan E. Dumon
Publikováno v:
Human molecular genetics
We report here a family in which the fragile X mutation segregates from an affected grandfather through his normal daughter to an affected grandson. The grandson shows clinical and cytogenetic expression of fragile X syndrome due to a full mutation (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d07bb0ffa18050a6cd184fc82cf12bf
https://doi.org/10.1093/hmg/1.7.511
https://doi.org/10.1093/hmg/1.7.511
Publikováno v:
American Journal of Medical Genetics. 39:453-457
We describe a twin with acardia acephalus or "Twin Reversed Arterial Perfusion Sequence" and prune belly sequence in the co-twin. In a former quite similar case a prune belly appearance of the co-twin of an acardiac fetus was found to be secondary to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19de2d73ffccd7addc8350f6bdcc6a00
https://doi.org/10.1002/ajmg.1320390416
https://doi.org/10.1002/ajmg.1320390416
Publikováno v:
Journal of Medical Genetics. 28:267-273
We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524cf51f17ba9f801ba5071df9efaf30
https://doi.org/10.1136/jmg.28.4.267
https://doi.org/10.1136/jmg.28.4.267
Publikováno v:
Clinical genetics
Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 1993: 44: 262–269. © Munksga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81c1ca0a0ffd59f41af1d133f59c0745
https://pubmed.ncbi.nlm.nih.gov/8313624
https://pubmed.ncbi.nlm.nih.gov/8313624
Autor:
Carine M. Gevaert, Julien Lambert, Jules G. Leroy, Bernadette Van Roy, Fabienne Marchau, Patrick J. Willems, Jan E. Dumon, Paul M. Parizel, Ilse De Canck
Publikováno v:
American journal of medical genetics
Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation invo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2395eaa4acebdeccb4e501837cd6cba5
https://hdl.handle.net/10067/65960151162165141
https://hdl.handle.net/10067/65960151162165141
Autor:
J. Gheuens, Berten Ceulemans, I. Buntinx, Bernadette Van Roy, Jan E. Dumon, Franki Speleman, Patrick Willems, Marie-Noëlle Van Thienen, Nadine Van Roy, Herman Willekens, Kathelijne Mangelschots, Joke Beuten
Publikováno v:
Human genetics
We describe two female siblings with similar clinical features consisting of hydrocephalus, scaphocephaly, hypotonia, mongoloid eye slant, blepharophimosis, micrognathia, supernumerary mouth frenula and mental retardation. Routine cytogenetic studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e1dfea979f2b57fe963b39b66f03a17
https://pubmed.ncbi.nlm.nih.gov/1352272
https://pubmed.ncbi.nlm.nih.gov/1352272
Autor:
Ingeborg Liebaers, S Castedo, Franki Speleman, Jan E. Dumon, A. De Paepe, B. Van der Auwera, N. Van Roy, J. R. Hawkins
Publikováno v:
Vrije Universiteit Brussel
XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using molecular techniques, it is possible to detect Yp sequences in the majority of XX males. In this study, we could detec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebd10b167e3e66cdedd7bf9197203ff
https://pubmed.ncbi.nlm.nih.gov/1577463
https://pubmed.ncbi.nlm.nih.gov/1577463