Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ammar F. Mubaidin"'
Autor:
Abdulrahman Alswaid, Kelly Springell, Sheila Scott, Ganesh H. Mochida, Raoul C.M. Hennekam, Ammar F. Mubaidin, Christopher A. Walsh, Daniel J. Hampshire, Peter Corry, Hussain Jafri, Yasmin Rashid, Emma Roberts, C. Geoffrey Woods, Marc Abramowicz, Eamonn R. Maher, Jean-Pierre Fryns, Jacquelyn Bond
Publikováno v:
American journal of human genetics, 73(5), 1170-1177. Cell Press
American Journal of Human Genetics, 73, 1170-1177. Cell Press
American Journal of Human Genetics, 73, 1170-1177. Cell Press
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb53ad4a57dce492d2a1d42376de5ed4
https://hdl.handle.net/11245/1.217242
https://hdl.handle.net/11245/1.217242
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 7(2)
We report a case of a 29-year-old female patient with atypical magnetic resonance image appearance of multiple sclerosis simulating brain tumor on magnetic resonance images, that proved to be a demyelinating disease on brain biopsy. Steroid pulse the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb6fdb35c395094f68790bd020fc57e9
https://pubmed.ncbi.nlm.nih.gov/23978927
https://pubmed.ncbi.nlm.nih.gov/23978927
Autor:
Ammar F. Mubaidin, Kamel Ajlouni, Azmi Hadidi, Maha Till, Hatem El-Shanti, Dana Hiyasat, Munir A. Dehyyat, Saleh Ajlouni
Publikováno v:
European Journal of Pediatrics. 161:170-172
We here report a rather novel syndrome of dysmorphic features, short stature, microcephaly, alopecia, psychomotor retardation, retinitis pigmentosa and secondary amenorrhoea. This may present a new complex multisystem disorder distinct from those rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02b18cd2c53b9b9d6e3017b342798383
https://doi.org/10.1007/s00431-001-0882-8
https://doi.org/10.1007/s00431-001-0882-8
Autor:
Christopher Geoffrey Woods, Emma Roberts, Daniel J. Hampshire, Jacquelyn Bond, Ammar F. Mubaidin, Amir S. Najim Al-Din, Yanick J. Crow, Abdul-Latif Wriekat
Publikováno v:
Journal of Medical Genetics. 38:680-682
Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848a9baf69a53f4d1ba02997ebdbf4f0
https://doi.org/10.1136/jmg.38.10.680
https://doi.org/10.1136/jmg.38.10.680
Autor:
A.G. Frauman, G.A. Wittert, V. Kamath, Tapas Das, Medha Y. Rao, Ibrahim Sherif, Piotr Kuna, Gary Maartens, Samar Banerjee, Ammar F. Mubaidin, S.M. Wasim Jafri, C.F. Van der Merwe, M.K. Daga, H.A. Goubran, Prem Pais, Y.-C. Chee, Saman B. Gunatilake, Tofayel Ahmed, Md. Abul Faiz, A.L. Kakrani, R. K. Gupta, Surendra K. Sharma, M.E. Yeolekar, K.R. Sethuraman, Milind Nadkar, Jan D. Bos, Ian J Simpson, W.F. Mollentze, D. Dalus, H.R. Salkar, A. V. Ramachandran, Dato’ Tahir Azhar, Sunil Varma, M.A. Brown
Publikováno v:
Davidson's Principles and Practice of Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b31299055c90782583c8089e85523fa8
https://doi.org/10.1016/b978-0-7020-3085-7.00039-0
https://doi.org/10.1016/b978-0-7020-3085-7.00039-0
Autor:
Daniel J. Hampshire, A Shurbaji, Christopher Geoffrey Woods, Ammar F. Mubaidin, M Mubaidien, A Jamil, A Kurdi, Amir S. Najim Al-Din, Emma Roberts, M Dehyyat
Publikováno v:
Journal of medical genetics. 40(7)
We report a Jordanian Arab family where two sibs developed the classical clinical and radiological features of pantothenate kinase associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz disease) but in addition had an early onset ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5392f7004c05d8e577d8de403b138c49
https://pubmed.ncbi.nlm.nih.gov/12843330
https://pubmed.ncbi.nlm.nih.gov/12843330
Autor:
Raida Khalil, Ashraf Kurdi, A.S. Najim Al-Din, Ahmed Al-Shehab, Abdul-Latif Wriekat, Ammar F. Mubaidin, Mohammed El-Khateeb
Publikováno v:
Journal of the neurological sciences. 131(2)
In a 2-year hospital-based study (1992 and 1993), there were 131 multiple sclerosis patients attending 2 large referral hospitals in Jordan. Based on MS/ALS case ratios an overall rate of 32.1 (95% CI 19.7-55.2) was estimated. There were 126 Arabs of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57dddd4f371f7994e1b4643fb02cf32
https://pubmed.ncbi.nlm.nih.gov/7595639
https://pubmed.ncbi.nlm.nih.gov/7595639
Publikováno v:
Acta neurologica Scandinavica. 90(6)
Introduction– Risk factors for aseptic intracranial venous occlusive disease are varied but only few epidemiologic studies were performed to verify the relative importance of particular factors. Patients and methods– A 2-year hospital-based prosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a46d15abd8c587f9c6879f2883b8a7
https://pubmed.ncbi.nlm.nih.gov/7892760
https://pubmed.ncbi.nlm.nih.gov/7892760
Publikováno v:
Acta neurologica Scandinavica. 89(5)
An unusual neurological syndrome in an Arab family with five affected siblings, is reported. Autosomal recessive inheritance is suggested by having multiple affected siblings born to phenotypically normal consanguineous parents. Similar to Davison's
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2843ea7a63111501032157aec54a714
https://pubmed.ncbi.nlm.nih.gov/8085432
https://pubmed.ncbi.nlm.nih.gov/8085432