Výsledky vyhledávání - "J C, Trommelen"

Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype

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

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Angelman syndrome in three adult patients with atypical presentation and severe neurological complications

Autor: G J, Van Buggenhout, M J, Descheemaeker, P, Thiry, J C, Trommelen, B C, Hamel, J P, Fryns

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

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Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care

Autor: G J, Van Buggenhout, J C, Trommelen, A, Schoenmaker, C, De Bal, J J, Verbeek, D F, Smeets, H H, Ropers, K, Devriendt, B C, Hamel, J P, Fryns

Publikováno v: American journal of medical genetics. 85(4)

Ninety-six adults with Down syndrome (DS) from an institutional setting of 591 mentally retarded were investigated systematically with respect to cytogenetic diagnosis, mental functioning and dementia, ophthalmological and audiological abnormalities,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d8fe40432a4d710e53eda28a3228e8ea
https://pubmed.ncbi.nlm.nih.gov/10398264

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Fountain syndrome: further delineation of the clinical syndrome and follow-up data

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

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Zimmermann-Laband syndrome in a patient with severe mental retardation

Autor: G J, Van Buggenhout, H G, Brunner, J C, Trommelen, B C, Hamel

Publikováno v: Genetic counseling (Geneva, Switzerland). 6(4)

Zimmermann-Laband syndrome in a patient with severe mental retardation: The Zimmermann-Laband syndrome (ZLS) is a rare autosomal dominant disorder characterized by gingival hyperplasia or fibromatosis, various skeletal anomalies including dysplasia o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cc6315cf77c0fe57e98d33faf76fde5f
https://pubmed.ncbi.nlm.nih.gov/8775419

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