Výsledky vyhledávání - "J O, Van Hemel"

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

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

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The fragile X phenotype in a mosaic male with a deletion showing expression of theFMR1 protein in 28% of the cells

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

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Limited size of the fragile X site shown by fluorescence in situ hybridization

Autor: Ben A. Oostra, Annemieke J.M.H. Verkerk, J. O. Van Hemel, Bert H.J. Eussen

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

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Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28

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

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Paracentric inversion inv(11) (q21q23) in the Netherlands

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

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Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection

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

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Etiological studies of severe or familial hypospadias

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

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Avoidance of emergency surgery in newborn infants with trisomy 18

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

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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

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

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

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

Autor: B B, de Vries, B H, Eussen, O P, van Diggelen, A, van Der Heide, W H, Deelen, L C, Govaerts, D, Lindhout, C H, Wouters, J O, Van Hemel

Publikováno v: American journal of medical genetics. 87(2)

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=pmid________::9494758a5fd021bc35d3fa38783e0aa4
https://pubmed.ncbi.nlm.nih.gov/10533035

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