Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Autor: Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen

Publikováno v: BMC Medical Genetics, Vol 6, Iss 1, p 21 (2005)

Abstract Background Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for

Externí odkaz: https://doaj.org/article/d1e591545d4245d28627aadc6e1a1979

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

Autor: A. Pascotto, G. Bellini, Jens Michael Hertz, P Ledaal, E. Miraglia del Giudice, Giangennaro Coppola

Publikováno v: Miraglia Del Giudice, E, Coppola, G, Bellini, G, Ledaal, P, Hertz, J M & Pascotto, A 2003, ' A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia ', Journal of Medical Genetics, vol. 40, no. 5, pp. e71 .
ResearcherID

Hyperekplexia or startle disease (STHE, OMIM 149400) is a rare neurological disorder characterised by neonatal generalised muscular hypertonia followed by a period of generalised stiffness and by an exaggerated startle response to sudden external sti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20582eaf369b6ebe70ae3ee0692f8fb0
http://hdl.handle.net/11386/3098564

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45,X/47,XY,+13 mosaicism and Crohn's disease

Autor: J. Knudtzon, D. Aarskog, M. Middelthon-Moe, P. Ledaal

Publikováno v: Acta paediatrica Scandinavica. 77(6)

The unusual karyotype 4S,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2999364394c49139081095d9734f13b
https://pubmed.ncbi.nlm.nih.gov/3207028