Zobrazeno 1 - 10
of 41
pro vyhledávání: '"B. C. Hamel"'
Autor:
M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel
Publikováno v:
Case Reports in Genetics, Vol 2019 (2019)
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from
Externí odkaz:
https://doaj.org/article/10af2e8b1c1b4ed188eed8f1a5affa66
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndr
Externí odkaz:
https://doaj.org/article/498420f4cc9244cea32ddc06621a2ec8
Publikováno v:
American Journal of Medical Genetics. 35:443-446
Acrocallosal syndrome is an autosomal recessive disorder of brain malformation and complex polydactyly. We report on an additional patient with this disorder. It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507d151d5f8cda801777f76069d3fe2f
https://doi.org/10.1002/ajmg.1320350325
https://doi.org/10.1002/ajmg.1320350325
Autor:
B C, Hamel
Publikováno v:
Nederlands tijdschrift voor tandheelkunde. 106(2)
In 2 to 3% of newborns a congenital anomaly is detected. About 20% of these have even multiple anomalies. After a short review on the classification of congenital anomalies a description of the diagnostic workup is given with emphasis on items which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a0b8975a4b84e1204dd413b9c929b157
https://pubmed.ncbi.nlm.nih.gov/11930343
https://pubmed.ncbi.nlm.nih.gov/11930343
Autor:
G J, Van Buggenhout, J M, Trijbels, R, Wevers, J C, Trommelen, B C, Hamel, H G, Brunner, J P, Fryns
Publikováno v:
Genetic counseling (Geneva, Switzerland). 12(1)
In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37ce482acb866166d72e48845326e4ba
https://pubmed.ncbi.nlm.nih.gov/11332972
https://pubmed.ncbi.nlm.nih.gov/11332972
Publikováno v:
Genetic counseling (Geneva, Switzerland). 11(4)
Angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e974e24f57d71b461355cf6d1028eebd
https://pubmed.ncbi.nlm.nih.gov/11140414
https://pubmed.ncbi.nlm.nih.gov/11140414
Publikováno v:
American journal of medical genetics. 94(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::308abb48e941e1ee4696054578d52529
https://pubmed.ncbi.nlm.nih.gov/11050617
https://pubmed.ncbi.nlm.nih.gov/11050617
Autor:
B C, Hamel, F A, Poppelaars
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(36)
It has long been known that among patients with mental retardation males outnumber females. This is the result of mutations in X-chromosomal genes: X-linked mental retardation. Its prevalence has been estimated as 1.8/1000 males with a carrier freque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::227cebb9710151fc4b91e9b8fd23d990
https://pubmed.ncbi.nlm.nih.gov/10992892
https://pubmed.ncbi.nlm.nih.gov/10992892
Autor:
J H, Tuerlings, B C, Hamel
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(34)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5e1467f130792f9305c1a722f5ea2ded
https://pubmed.ncbi.nlm.nih.gov/10972056
https://pubmed.ncbi.nlm.nih.gov/10972056
Autor:
W Y, Wong, T K, Eskes, A M, Kuijpers-Jagtman, P H, Spauwen, E A, Steegers, C M, Thomas, B C, Hamel, H J, Blom, R P, Steegers-Theunissen
Publikováno v:
Teratology. 60(5)
Maternal folic acid supplementation has been suggested to play a role in the prevention of nonsyndromic orofacial clefts, i.e., cleft lip +/- cleft palate. Using a case-control design, we investigated vitamin-dependent homocysteine metabolism in 35 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c862b41b7db76771e8111de2768b21c5
https://pubmed.ncbi.nlm.nih.gov/10525201
https://pubmed.ncbi.nlm.nih.gov/10525201