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[From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene]

Autor: G J, de Haan, D J J, Halley, W H, Deelen, D, Lindhout

Publikováno v: Nederlands tijdschrift voor geneeskunde. 146(18)

Progressive myoclonus epilepsy type 1 of Unverricht-Lundborg (EPM1) is a rare disorder, associated with mutations in the cystatin B (CSTB) gene. The most prevalent molecular abnormality is an expansion of a dodecamer repeat in the promoter region of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e8536d01ff3eb18c6cd0283ecc1ade6b
https://pubmed.ncbi.nlm.nih.gov/12038222

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Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)

Autor: B B, de Vries, B H, Eussen, O P, van Diggelen, A, van Der Heide, W H, Deelen, L C, Govaerts, D, Lindhout, C H, Wouters, J O, Van Hemel

Publikováno v: American journal of medical genetics. 87(2)

In a 3-year-old boy with short stature, developmental delay, and dry skin, steroid sulphatase deficiency and a submicroscopic terminal deletion of Xp were found. Except for the short stature, no major clinical signs of X-linked recessive chondrodyspl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9494758a5fd021bc35d3fa38783e0aa4
https://pubmed.ncbi.nlm.nih.gov/10533035

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Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

Autor: D, Van Opstal, C, Van den Berg, W H, Deelen, H, Brandenburg, T E, Cohen-Overbeek, D J, Halley, A M, Van den Ouweland, P A, In 't Veld, F J, Los

Publikováno v: Prenatal diagnosis. 18(1)

In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eca2bdbdb50cdb9810286437bd483ea8
https://pubmed.ncbi.nlm.nih.gov/9483638

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Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome

Autor: M. Zygulska, Jerzy Bal, E. Bocian, E. Obersztyn, W. H. Deelen, D. J. J. Halley, M. Milewski, J. Horst, Tadeusz Mazurczak

Publikováno v: Europe PubMed Central
Scopus-Elsevier

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88daf1f3f4bee79b7c2041fc74994906
http://europepmc.org/abstract/med/8862184

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