Výsledky vyhledávání

Autor: S. De Muynck, A. Verdonck, Gert Matthijs, Carine Carels, E. Schollen, Koenraad Devriendt

Publikováno v: American Journal of Medical Genetics. :401-403

MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb870652d94fdd14fd42513e4495d36
https://doi.org/10.1002/ajmg.a.30181

Zobrazit plný text záznamu

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

Autor: K, Devriendt, G, Matthijs, E, Legius, E, Schollen, D, Blockmans, C, van Geet, H, Degreef, J J, Cassiman, J P, Fryns

Publikováno v: American journal of human genetics. 60(3)

In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions follow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cf41b6a65333cd71da78e92477acdfb7
https://pubmed.ncbi.nlm.nih.gov/9042917

Zobrazit plný text záznamu

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Autor: D G Keir, V C Worthington, Faiqa Imtiaz, E Schollen, M J Henderson, Christian J. Hendriksz, Patricia McClean, Gert Matthijs, B G Winchester

Publikováno v: Archives of Disease in Childhood. 85:339-340

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomann

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8867ea499f0304de9435558f13cf5a62
https://doi.org/10.1136/adc.85.4.339

Zobrazit plný text záznamu