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Mosaic trisomy (8)(p22 ? pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Autor: M. Verschuren, H. Y. Kroes, J. M. de Pater, J. C. M. Albrechts, A. C. C. van Oppen, John J.M. Engelen

Publikováno v: Prenatal Diagnosis. 25:151-155

Objective Our objective was to characterise a marker chromosome in cultured amniocytes of a fetus with a mos 47,XX,+mar[3]/46,XX[14] karyotype. Methods The indication for prenatal cytogenetic analysis of cultured amniocytes was advanced maternal age.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0ba343f56e072f841590e483f9e88
https://doi.org/10.1002/pd.1097

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Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Autor: Paul Cullen, M. Schreiner, H. O. F. Molhuizen, A. Mischke, Jürgen Geisel, Michael Walter, Harald Funke, H. Y. Kroes, H. W. Hahmann, John J.P. Kastelein, A. von Eckardstein, Stephan Rust, Gerd Assmann, R. Hordijk

Publikováno v: Nature genetics, 20(1), 96-98. Nature Publishing Group
Nature Genetics, 20(1), 96-98. Nature Publishing Group

A low level of high density lipoprotein (HDL) cholesterol is a strong predictor of ischaemic heart disease (IHD) and myocardial infarction(1-3). One cause of low HDL-cholesterol is Tangier disease (TD), an autosomal codominant inherited condition fir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e581e58bb8872e66128ce506bfe3bd21
https://doi.org/10.1038/1770

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Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Autor: H Y, Kroes, G, Pals, A J, van Essen

Publikováno v: Clinical genetics. 63(3)

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::370901ee8851cc66d3039cd09317a26f
https://pubmed.ncbi.nlm.nih.gov/12694234

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Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

Autor: N. R. P. Folkers, H. Y. Kroes, L.P. ten Kate, Joep H. A. M. Tuerlings, R. Hordijk

Publikováno v: JOURNAL OF MEDICAL GENETICS, 31(2), 156-158. BMJ PUBLISHING GROUP

We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e3944ee0ac5b2fcd22ec6dc0acb831
https://research.rug.nl/en/publications/168a0e6b-c5af-469c-8615-1d0b4aabf95a

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[Carrier detection in cystic fibrosis. Various illustrative examples]

Autor: H Y, Kroes, H, Scheffer, L P, ten Kate

Publikováno v: Tijdschrift voor kindergeneeskunde. 60(6)

Until 1989 carrier detection in families with cystic fibrosis (CF) took place by means of linkage analysis with polymorphic DNA markers. This is an indirect method to demonstrate carriership. For linkage analysis it is often essential that there is p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e81cc6293154c49905f99c365d890a7c
https://pubmed.ncbi.nlm.nih.gov/1488735

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