Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Gholamali Tariverdian"'
Autor:
Gholamali Tariverdian, Annelyse Mertz, Stephanie Spranger, Gudrun A. Rappold, K. Schiebel, Stefan Kirsch
Publikováno v:
Clinical Genetics. 51:346-350
A translocation chromosome in a woman with the karyotype 46,X,der(X)t(X;Y)(p22.3; q11.2) was investigated by FISH and STS analysis with molecular probes derived from the sex chromosomes. Due to the partial deletion of the short arm pseudoautosomal re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b8a6226e091a125bf7a6d4dd09b187
https://doi.org/10.1111/j.1399-0004.1997.tb02486.x
https://doi.org/10.1111/j.1399-0004.1997.tb02486.x
Autor:
Barbara Burwinkel, Gholamali Tariverdian, Kari Hemminki, Ingo Helbig, Ruediger Klaes, Michael Wirtenberger, Anna Jauch, Hans Dieter Hager
Publikováno v:
American Journal of Medical Genetics Part A. :1658-1662
Partial trisomies are chromosome abnormalities resulting in a broad range of malformations depending on the size and location of the chromosomal rearrangement. Whereas diagnosis of these syndromes is usually made in early childhood, few descriptions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5e8970a51c00163d8a844c20b38b49a
https://doi.org/10.1002/ajmg.a.31350
https://doi.org/10.1002/ajmg.a.31350
Publikováno v:
Clinical Dysmorphology. 14:51-54
Partial duplication of chromosome 6q has been recognized as a distinct dysmorphic syndrome with severe psychomotor and growth retardation, typical craniofacial features including microcephaly and microstomia, neck webbing, congenital contractures, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a0c073f4ce4b22bf18897981c8b743
https://doi.org/10.1097/00019605-200501000-00013
https://doi.org/10.1097/00019605-200501000-00013
Das Buch führt anschaulich und verständlich durch die Welt der Chromosomen, Gene und Mutationen. Es zeigt, wie die Vererbung beim Menschen funktioniert, wie Fehler in den Erbanlagen entstehen, welche Möglichkeiten und Risiken die Gentherapie hat u
The novel Rho-GTPase activating gene MEGAP / srGAP3 has a putative role in severe mental retardation
Autor:
Dieter Karch, Birgit Wogatzky, Farida Latif, Malgorzata Zatyka, Eamonn R. Maher, Gholamali Tariverdian, Uwe Leimer, Gudrun A. Rappold, Volker Endris, Dusan Bartsch, Stefan Kirsch
Publikováno v:
Proceedings of the National Academy of Sciences. 99:11754-11759
In the last few years, several genes involved in X-specific mental retardation (MR) have been identified by using genetic analysis. Although it is likely that additional genes responsible for idiopathic MR are also localized on the autosomes, cloning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296a5f3fb5b5264387612e3e09fe6ec5
https://doi.org/10.1073/pnas.162241099
https://doi.org/10.1073/pnas.162241099
Autor:
Heidi Holtgreve-Grez, Michaela Brough, Susanne Popp, Inge Rauterberg-Ruland, Anna Jauch, Monika Keller, Gholamali Tariverdian, H. D. Hager, Brigitte Schoell, Martin Granzow
Publikováno v:
Human Genetics. 107:51-57
Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfa6a44b35233c374e8b112fa5ae19b
https://doi.org/10.1007/s004390000321
https://doi.org/10.1007/s004390000321
Autor:
Krystyna H. Chrzanowska, Iosif W. Lurie, Barto J. Otten, Ben C.J. Hamel, H. Ilyina, M. Krajewska-Walasek, Damina Balmer, E. Schoenle, Gholamali Tariverdian, Dieter Kotzot, Albert Schinzel, Alessandra Baumer
Publikováno v:
European Journal of Pediatrics, 159, pp. 247-256
European Journal of Pediatrics, 159, 247-256
European Journal of Pediatrics, 159, 247-256
Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c0fe35f74044a07d88b5f62a095912
https://doi.org/10.1007/s004310050064
https://doi.org/10.1007/s004310050064
Autor:
Gudrun A. Rappold, Jochen Tröger, Inge Rauterberg-Ruland, Simone Schiller, Anna Jauch, Gholamali Tariverdian, Kathrin Wolff, Dieter Hager, Stephanie Spranger
Publikováno v:
American Journal of Medical Genetics. 83:367-371
We report on a mother and her 5-year old son, both with a terminal deletion of the short arm of the X chromosome. By molecular genetic analysis the breakpoint was located distal to steroid sulfatase gene. The boy manifested, due to nullisomy of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b88db86ba9cc85fa0468c5dfbf292ac5
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co
Autor:
Stephanie Spranger, H. Stute, A. Blankenagel, Dieter Hager, Gholamali Tariverdian, Anna Jauch
Publikováno v:
Monatsschrift Kinderheilkunde. 146:761-765
Hautdefekte in segmentaler Anordnung und Mikrophthalmus sind Leitsymptome des kongenitalen Varizellensyndroms. Ein genetisch bedingtes Krankheitsbild, das MIDAS-Syndrom (MI=Mikrophthalmus; DA=dermal aplasia; S=Sklerokornea), hat eine ahnliche klinisc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a2719ee687582f9decfa12cfebc6e07
https://doi.org/10.1007/s001120050319
https://doi.org/10.1007/s001120050319