ETIOLOGICAL STUDIES OF SEVERE OR FAMILIAL HYPOSPADIAS

Autor: Albert O. Brinkmann, Frank H. de Jong, Marc A.M. Mureau, Rien J.M. Nijman, Martinus F. Niermeijer, Brigitte A.S. Lammers, Stenvert L. S. Drop, Sjef J.F. De Coninck, Jan O. Van Hemel, Annemie L.M. Boehmer, Axel P. N. Themmen

Publikováno v: Journal of Urology. 165:1246-1254

Purpose: Hypospadias is a congenital anomaly occurring in 1250 to 1830 live male births, of which 20% involve a severe type. The recurrence risk in families is high. In the majority of cases the underlying etiology remains unknown, which hampers furt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b27050c4c6ccebdc21453133e255fa
https://doi.org/10.1016/s0022-5347(05)66505-6

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

Autor: Bert B.A. de Vries, Bert H.J. Eussen, Cokkie H. Wouters, Lutgarde C.P. Govaerts, Annet van der Heide, Dick Lindhout, Wouter H. Deelen, Otto P. van Diggelen, Jan O. Van Hemel

Publikováno v: American Journal of Medical Genetics. 87:189-194

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=doi_________::0fedec505dd4d2f70377404dbb368b70
https://doi.org/10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.0.co

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

Autor: Frank Visscher, Jan O. Van Hemel, Annette A. van der Heide, Cokkie H. Wouters, B. Eussen, Hanne Meijers-Heijboer, Rob B. van Luijk, B Beverloo, Ellen van Drunen

Publikováno v: American journal of medical genetics, 102(3), 261-265. Wiley-Liss Inc.
American Journal of Medical Genetics, 102(3), 261-265. Wiley-Liss Inc.

We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f6f0af054410ffde24d71b379192a9
https://pure.amc.nl/en/publications/deletions-at-chromosome-regions-7q1123-and-7q36-in-a-patient-with-williams-syndrome(60dbd0b0-0239-4c5e-900c-50b08d94a831).html

Partial trisomy 10q: a recognizable syndrome

Autor: Johanna M. Klep-de Pater, Jan B. Bijlsma, Henny F. de France, Nico J. Leschot, Mia Duijndam-van den Berge, Jan O. van Hemel

Publikováno v: Human genetics. 46(1)

Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4a835fe23cb715fdaa867efdf0cbd1
https://pubmed.ncbi.nlm.nih.gov/429004

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

Autor: Ouweland, Ans, Est, Mieke, Swaay, Eveline, Tijmensen, Ton, Los, Frans, Hemel, Jan, Hennekam, Raoul, Meijers-Heijboer, Hanne, Niermeijer, Martinus, Halley, Dicky

Publikováno v: Human Genetics; 1995, Vol. 95 Issue 5, p562-567, 6p