Zobrazeno 1 - 10
of 199
pro vyhledávání: '"N, Van Regemorter"'
Publikováno v:
American Journal of Medical Genetics. 112:198-202
Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26e56b52b8d4f7214117ae3d9f1a260
https://doi.org/10.1002/ajmg.10452
https://doi.org/10.1002/ajmg.10452
Autor:
F Leroy, Ghazala Mirza, N. Van Regemorter, Jiannis Ragoussis, C Law, Af Davies, G Sekhon, Franki Speleman, Frances Flinter, Peter D. Turnpenny, E Vamos
Publikováno v:
Human Genetics. 104:64-72
Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50da5173eee1da5ef6340eae2bac30e5
https://doi.org/10.1007/s004390050911
https://doi.org/10.1007/s004390050911
Autor:
G.S. Tint, N. Van Regemorter, Frank Roels, Patrick Peeters, Akira Honda, G. Pierquin, Jean-Marie Brucher, E Vamos
Publikováno v:
American Journal of Medical Genetics. 56:276-280
We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c834c3bfeac63a6191c9af4d76dc57d
https://doi.org/10.1002/ajmg.1320560308
https://doi.org/10.1002/ajmg.1320560308
Autor:
Fred E. Avni, Françoise Rypens, V Paquet, Frédéric Rodesch, Catherine Donner, D. Delneste, N. Van Regemorter, E Vamos, E Cohen
Publikováno v:
Fetal Diagnosis and Therapy. 10:192-199
Between October 1985 and December 1993, 421 patients underwent fetal blood sampling for rapid karyotyping (426 samplings, 5 twin pregnancies). The aim of the study was to evaluate cordocentesis in terms of results, complications and additional inform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9e4bdf8b96402965f0d5d8adea3c5ae
https://doi.org/10.1159/000264235
https://doi.org/10.1159/000264235
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 38(3)
Homozygous alpha-thalassaemia or Bart's hydrops fetalis is a genetic disease with autosomal recessive transmission. The condition is lethal for the fetus because of hypoxia and anemia. For the mother there is an increased risk of the severe forms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f731fee8602c09817be77f8f472e6aa
https://pubmed.ncbi.nlm.nih.gov/19303226
https://pubmed.ncbi.nlm.nih.gov/19303226
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 29(5)
Objective To compare the diagnostic accuracy of two-dimensional (2D) ultrasound and three-dimensional (3D) computed tomography (CT) for the diagnosis of fetal skeletal anomalies. Methods Eleven pregnant women underwent 2D ultrasound and 3D-CT. Ten fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7e8fa8916b0213cc76d7b314f613b3
https://pubmed.ncbi.nlm.nih.gov/17444568
https://pubmed.ncbi.nlm.nih.gov/17444568
Autor:
V. De Maertelaer, M. Staebler, Laurence Duprez, Fabienne Devreker, N. Van Regemorter, Fred E. Avni, Catherine Donner
Publikováno v:
Prenatal diagnosis. 25(7)
Objective The aim of this study was to determine whether karyotyping should be performed for every fetal malformation detected in low risk populations. Methods A karyotype was obtained from 428 fetuses examined over a 10-year period after fetal malfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7271649199a7a87fd2638656a5ce3ba
https://pubmed.ncbi.nlm.nih.gov/16032766
https://pubmed.ncbi.nlm.nih.gov/16032766
Publikováno v:
Genetic counseling (Geneva, Switzerland). 9(2)
The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear terminal G bands of equal sizes of the long arms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::58a8c77049fcc27fdbbef3edb67e7bf1
https://pubmed.ncbi.nlm.nih.gov/9664205
https://pubmed.ncbi.nlm.nih.gov/9664205
Publikováno v:
Human genetics. 97(3)
We have characterised a point mutation causing the substitution of serine for glycine at position 661 of the alpha1(I) chain of type I collagen in a child with a severe form of osteogenesis imperfecta. An identical glycine substitution in the alpha2(
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8d7a9d92b3d23bd7fe2c277e7a61fd3
https://pubmed.ncbi.nlm.nih.gov/8786074
https://pubmed.ncbi.nlm.nih.gov/8786074
Autor:
Sara Seneca, Ingeborg Liebaers, N. Van Regemorter, Willy Lissens, P. Van Bogaert, C. Verellen-Dumoulin, M. Freund, R. Vervoort
Publikováno v:
Vrije Universiteit Brussel
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease of myelin metabolism caused by a deficiency in the lysosomal enzyme arylsulphatase A (ARSA). We have identified a new mutation in exon 4 of the ARSA gene of two unrelated Belgian pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9f8f606a1eec4bb575c9053d00d9e2
https://pubmed.ncbi.nlm.nih.gov/8982952
https://pubmed.ncbi.nlm.nih.gov/8982952