Zobrazeno 1 - 10
of 43
pro vyhledávání: '"J O, Van Hemel"'
Autor:
M.H.E.C. Pieters, R. F. A. Weber, Gert R. Dohle, Lutgarde C.P. Govaerts, A.M.W. van den Ouwel, D. J. J. Halley, J. O. Van Hemel
Publikováno v:
Human Reproduction. 17:13-16
BACKGROUND: Male infertility due to severe oligozoospermia and azoospermia has been associated with a number of genetic risk factors. METHODS: In this study 150 men from couples requesting ICSI were investigated for genetic abnormalities, such as con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d276741268b773ccf3a5081a5cf68ba
https://doi.org/10.1093/humrep/17.1.13
https://doi.org/10.1093/humrep/17.1.13
Autor:
B. B. A. De Vries, A. M. W. Van Den Ouweland, J. O. Van Hemel, S. Mohkamsing, Ben A. Oostra, Ruben H. Willemsen, E. de Graaff
Publikováno v:
American Journal of Medical Genetics. 64:302-308
The instability of the CGG repeat region of FMR1 is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported with a deletion of part of the CGG repeat and 30 bp immediately 3' of the repeat, thus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08ab2d9962bb2c1bbc356fbf3d5be6d7
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<302::aid-ajmg14>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<302::aid-ajmg14>3.0.co
Publikováno v:
American Journal of Medical Genetics. 43:187-191
Cosmids, isolated from a 475 kb YAC that spans the fragile X region, and the YAC itself, were used for fluorescence in situ hybridization (FISH) on metaphase chromosomes from fragile X patients. Cosmid 22.3, containing most of the hybrid translocatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7007ff4777af1c5ad679ed297034e440
https://doi.org/10.1002/ajmg.1320430131
https://doi.org/10.1002/ajmg.1320430131
Autor:
Egbert Bakker, Ben A. Oostra, J. O. Van Hemel, Danielle Majoor-Krakauer, B.A. van Oost, Malgorzata Schmidt, David F. Callen
Publikováno v:
American Journal of Medical Genetics. 38:332-335
A new polymorphic DNA marker RN1, defining locus DXS369, was recently isolated. Using different somatic cell hybrids, RN1 was mapped between markers 4D-8 and U6.2. We have narrowed the localization of RN1 to the region between 4D-8 and FRAXA by genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b1848598468c3c5d454a8811ea54255
https://doi.org/10.1002/ajmg.1320380233
https://doi.org/10.1002/ajmg.1320380233
Autor:
C. J. van Asperen, A. S. P. M. Breed, J. O. Van Hemel, K. Madan, A. J. H. Hamers, L. P. Kuyt, J. M. de Pater, Dominique Smeets, T. W. J. Hustinx, M.H.E.C. Pieters, K. B. J. Gerssen-Schoorl
Publikováno v:
HUMAN GENETICS, 85(1), 15-20. SPRINGER
We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Als
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754d0c3c0ac48a53e079cba8d26b725d
https://doi.org/10.1007/bf00276319
https://doi.org/10.1007/bf00276319
Autor:
R. F. A. Weber, M.H.E.C. Pieters, Marc Dhont, N den Hollander, Frans J. Los, P A Veld, J. O. Van Hemel
Publikováno v:
Human Reproduction, 12(8), 1642-1644. Oxford University Press
Two case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd3daf3e7f5cc48d2676c87037a565f
https://doi.org/10.1093/humrep/12.8.1642
https://doi.org/10.1093/humrep/12.8.1642
Autor:
A L, Boehmer, R J, Nijman, B A, Lammers, S J, de Coninck, J O, Van Hemel, A P, Themmen, M A, Mureau, F H, de Jong, A O, Brinkmann, M F, Niermeijer, S L, Drop
Publikováno v:
The Journal of urology. 165(4)
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 further manag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1561fdf8023889cd2d4682268092619e
https://pubmed.ncbi.nlm.nih.gov/11257695
https://pubmed.ncbi.nlm.nih.gov/11257695
Autor:
J O, Van Hemel, H J, Eussen
Publikováno v:
Human genetics. 107(5)
In five families with questionable chromosome rearrangements, we identified an interchromosomal insertion by fluorescent in situ hybridization (FISH). In case 1 with a dir ins (5;11)(p14;q14q24) in three generations, the mentally retarded and microce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b27487732b36f768cebf54df46af3932
https://pubmed.ncbi.nlm.nih.gov/11140939
https://pubmed.ncbi.nlm.nih.gov/11140939
Autor:
Dick Tibboel, Cjm Broers, E. Wesby-van Swaay, Albert P. Bos, J. O. Van Hemel, Fwj Hazebroek, Jan C. Molenaar
Publikováno v:
The Lancet. 339:913-915
Trisomy 18 (Edwards' syndrome) presents with characteristic external features as well as life-threatening abnormalities; many of these abnormalities require surgical correction during the neonatal period. Children with trisomy 18 have a very short li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68545fa8dd2eacb9a9b320f006bf3c9f
https://doi.org/10.1016/0140-6736(92)90940-5
https://doi.org/10.1016/0140-6736(92)90940-5
Autor:
B H, Eussen, G, Bartalini, L, Bakker, P, Balestri, C, Di Lucca, J O, Van Hemel, H, Dauwerse, A M, van Den Ouweland, C, Ris-Stalpers, S, Verhoef, D J, Halley, A, Fois
Publikováno v:
Journal of Medical Genetics, 37, 287-291. BMJ Publishing Group
Journal of medical genetics, 37(4), 287-291. BMJ Publishing Group
Journal of medical genetics, 37(4), 287-291. BMJ Publishing Group
We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54bb127e95361807d8b49a6a026391d
https://dare.uva.nl/personal/pure/en/publications/an-unbalanced-submicroscopic-translocation-t816q243p133pat-associated-with-tuberous-sclerosis-complex-adult-polycystic-kidney-disease-and-hypomelanosis-of-ito(95dab673-f167-4b6a-aee9-464215a1e2ef).html
https://dare.uva.nl/personal/pure/en/publications/an-unbalanced-submicroscopic-translocation-t816q243p133pat-associated-with-tuberous-sclerosis-complex-adult-polycystic-kidney-disease-and-hypomelanosis-of-ito(95dab673-f167-4b6a-aee9-464215a1e2ef).html
