Adrenoleukodystrophy (Siemerling-Creutzfeldt disease): Heterozygote with two clonal fibroblast populations

Autor: H. H. Ropers, J Zimmermann, Thomas F. Wienker

Publikováno v: Clinical Genetics. 11:114-118

On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e118b54df841eb895b398c18f34a31e
https://doi.org/10.1111/j.1399-0004.1977.tb01287.x

Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk

Autor: H. H. Ropers, Gerd Utermann, Thomas F. Wienker

Publikováno v: Clinical Genetics. 9:545-552

Cultivated amnion cells obtained from a pregnancy at risk for the homozygous form of familial hypercholesterolemia were analyzed, as were fibroblasts from normal, heterozygous and homozygous controls. Three different methods were employed in order to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e20d50128693b21bdc63c62380839c9
https://doi.org/10.1111/j.1399-0004.1976.tb01611.x

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

Autor: Claus Hultschig, Reinhard Ullmann, H. H. Ropers, Wei Chen, Fikret Erdogan, Maria Kirchhoff, T Bryndorf, Ralph Schulz, Ines Müller, Vera M. Kalscheuer, Corinna Menzel

Publikováno v: Cytogenetic and Genome Research. 115:247-253

Low copy repeats (LCRs) are stretches of duplicated DNA that are more than 1 kb in size and share a sequence similarity that exceeds 90%. Non-allelic homologous recombination (NAHR) between highly similar LCRs has been implicated in numerous genomic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e5fafc2bb53731e6ee53fcd3c4475fb
https://doi.org/10.1159/000095921

Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Autor: I.J. de Wijs, E.C.M. Mariman, B.C.J. Hamel, H.-H. Ropers, Erik A. Sistermans, H. Kremer, B. Van Den Helm, W.F.M. Arts

Publikováno v: Human Genetics, 98, 5, pp. 513-517
Human Genetics, 98, pp. 513-517
Human Genetics, 98, 513-517
Human Genetics, 98(5), 513-517. Springer Verlag
Kremer, H, Hamel, B C J, Van den Helm, B, Arts, W F M, De Wijs, I J, Sistermans, E A, Ropers, H H & Mariman, E C M 1996, ' Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood ', Human Genetics, vol. 98, no. 5, pp. 513-517 . https://doi.org/10.1007/s004390050250

Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal cour

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http://www.scopus.com/inward/record.url?scp=0029809954&partnerID=8YFLogxK

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever

Autor: J.P.H. Drenth, J.W.M. van der Meer, S.D. van der Velde-Visser, H.-H. Ropers, Edwin C. M. Mariman

Publikováno v: Human Genetics. 94:616-620

The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (>100U/ml). Thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed6e105610c90cdcab4ade881a35d3f8
https://doi.org/10.1007/bf00206953