Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Iman Abusaad"'
Autor:
Iman Abusaad, Shehla Mohammed, Keith R.E. Pohl, Jane Ritchie, Caroline Mackie Ogilvie, Zoe Docherty
Publikováno v:
American Journal of Medical Genetics. 87:354-359
Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b6f94cbdaadbbd80099c80b6b41c183
https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<354::aid-ajmg14>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<354::aid-ajmg14>3.0.co
Publikováno v:
American Journal of Medical Genetics. 70:166-170
We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b09dbba9e68c7fb87c72b87ca2a5bdbf
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<166::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<166::aid-ajmg12>3.0.co
Autor:
Rosemarie Davidson, Richard J. Stephens, Angela F. Davies, Iman Abusaad, Mark G. Olavesen, Nicole Van Regemorter, Jiannis Ragoussis, Frances Flinter, Daniele Delneste, E. Vamos
Publikováno v:
Human Genetics. 98:454-459
Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dec99bbcc606f121eca4acc9813f2f9
https://doi.org/10.1007/s004390050239
https://doi.org/10.1007/s004390050239
Publikováno v:
The Journal of comparative neurology. 408(4)
Using a stereological method, the optical disector, we examined three inbred strains of mice (NZB/BINJ, DBA/2, and C57BL/6J) for morphological differences in volume, neuronal number, and density of the pyramidal cell and dentate gyrus granule cell la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22e18f91e4e5d7b8a358ce65fe2a751
https://pubmed.ncbi.nlm.nih.gov/10340505
https://pubmed.ncbi.nlm.nih.gov/10340505
Autor:
Monsheel S. Sodhi, David A. Collier, Robin M. Murray, N Davies, Margot Albus, Maria Arranz, Jeanette Erdmann, Markus M. Nöthen, Ernst Franzek, Daphne Shimron-Abarbanell, Robert Kerwin, Bettina Weigelt, Marcella Rietschel, Wolfgang Maier, George Kirov, Iman Abusaad, Pak C. Sham, David Ball, Peter Propping
Publikováno v:
Neuroscience letters. 224(2)
The aim of this study was to investigate the possible involvement of genetic variation in serotonin receptors in the aetiology of bipolar affective disorder. The 5-HT2A receptor gene was systematically screened for genetic variants by single strand c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc42eb71f633df9140c69d9f9ac1bdf
https://pubmed.ncbi.nlm.nih.gov/9086465
https://pubmed.ncbi.nlm.nih.gov/9086465
Autor:
Shin Nanko, Catherine A. Walsh, Iman Abusaad, Michael Gill, Anthony Ashworth, D. A. Collier, A. Clements, Michael John Owen
Publikováno v:
Schizophrenia Research. 9:115-116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0daee7b735e1bebd5d14f0d941ea32a0
https://doi.org/10.1016/0920-9964(93)90162-c
https://doi.org/10.1016/0920-9964(93)90162-c
Autor:
A. Ashworth, Michael John Owen, Michael Gill, Iman Abusaad, Cathal Walsh, D. A. Collier, Robin M. Murray, P. McGuffin, Shinichiro Nanko, P. Asherson
Publikováno v:
Scopus-Elsevier
We have examined 23 families multiply affected with schizophrenia for linkage to the FMR-1 gene on the X chromosome. Alleles at the FMR-1 CGG triplet repeat were analysed by the polymerase chain reaction, and methylation status at the FMR-1 locus in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1dcfcd3c69fd93f3840cf7887c590f8
http://www.scopus.com/inward/record.url?eid=2-s2.0-9544257273&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-9544257273&partnerID=MN8TOARS
Autor:
Abusaad, Iman, Mackay, Daniel, Zhao, Jinghua, Stanford, Paul, Collier, David A., Everall, Ian P.
Publikováno v:
Journal of Comparative Neurology; 1999, Vol. 408 Issue 4, p560-566, 7p
Autor:
Davies, Angela F., Olavesen, Mark G., Stephens, Richard J., Davidson, Rosemarie, Delneste, Daniele, Regemorter, Nicole Van, Vamos, Esther, Flinter, Frances, Abusaad, Iman, Ragoussis, J.
Publikováno v:
Human Genetics; 1996, Vol. 98 Issue 4, p454-459, 6p