SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Autor: Rob G.J. Mensink, G van der Steege, Chcm Buys, J. M. Cobben, Hans Scheffer, Rein P. Stulp

Publikováno v: European Journal of Human Genetics, 8(2), 79-86. Nature Publishing Group

To facilitate the detection of carriers of a hemizygous survival motor neuron (SMN) exon 7 deletion we have modified the quantitative SMN exon 7 assay described by McAndrew ct al (1997). The major changes include quantitative analysis of the amount o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac2f649fe76acc01bd5ed6dff5eaae0
https://doi.org/10.1038/sj.ejhg.5200404

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22

Autor: van Ton Essen, R. A. Van Lingen, Robert M.W. Hofstra, Chcm Buys, Jgv Campagne, Katelijne Bouman, Jbgm Verheij, AY van der Veen, B Leegte

Publikováno v: American Journal of Medical Genetics, 86(2), 168-173. WILEY-LISS

To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p, We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f586b4f1950f646eb614b41f0ed429
https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co

Oncological implications of RET gene mutations in Hirschsprung's disease

Autor: Chcm Buys, Thera P. Links, Robert M.W. Hofstra, A. Vermey, G Tan-Sindhunata, DC Aronson, GJ Brouwers-Smalbraak, R. P. Zwierstra, Rolf H. Sijmons, Saskia M. Maas, FA Wijburg

Publikováno v: Gut, 43(4), 542-547. BMJ PUBLISHING GROUP
Gut, 43(4), 542-547. BMJ Publishing Group
Sijmons, R H, Hofstra, R M W, Wijburg, F A, Links, T P, Zwierstra, R P, Vermey, A, Aronson, D C, Tan-Sindhunata, G, Brouwers-Smalbraak, G J, Maas, S M & Buys, C H C M 1998, ' Oncological implications of RET gene mutations in Hirschsprung's disease ', Gut, vol. 43, no. 4, pp. 542-547 . https://doi.org/10.1136/gut.43.4.542
Scopus-Elsevier
Gut, 43, 542-547. BMJ Publishing Group

Background—Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5–5% of sporadic and familial cases of Hirschsprung’s diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c7d307d60a3af8c1ea8fa99fd60417
https://doi.org/10.1136/gut.43.4.542

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A

Autor: R.M. Landsvater, Hkp vanAmstel, Robert M.W. Hofstra, Rpm Jansen, Cjm Lips, Chcm Buys

Publikováno v: HUMAN GENETICS, 97(1), 11-14. SPRINGER

Hereditary C-cell carcinoma is encountered in multiple endocrine neoplasia type 2A (MEN 2A), MEN 2B, and familial medullary thyroid carcinoma (FMTC). Mutations of the RET proto-oncogene are associated with all three diseases. To obtain an insight int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da08b9498d73b04f89f0af18d3a9512d
https://doi.org/10.1007/bf00218825

Identification of Key Recombinants in Multiplex SMA Families

Autor: C. Brahe, Stefania Zappata, Lp Tenkate, Giovanni Neri, Chcm Buys, J. M. Cobben, Jan Osinga, Hans Scheffer, G Vandersteege, Gjb Vanommen

Publikováno v: GENOMICS, 22(1), 219-222. ACADEMIC PRESS INC ELSEVIER SCIENCE

Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4f1e3d95b2b21cffa49445bbcf24b19
https://hdl.handle.net/11370/7a3beb84-e41b-4080-b693-5e2a63a8a4e6