Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Sadika Al Awadi"'
1
Hereditary multiple exostoses, macrocephaly, congenital heart disease, developmental delay, and mental retardation in a female patient: A possible new syndrome? Or new association?
Autor: Sadika Al-awadi, Hanan I Hamouda, Sawasan Abulhasan
Publikováno v: Egyptian Journal of Medical Human Genetics. 12(1):95-98
Hereditary multiple exostoses (HME) or multiple osteochondromas are an autosomal dominant condition and are genetically heterogeneous. It is characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246b282da6b51f00998d5b23b132b9a5
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2
Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis
Autor: Sadika Al Awadi, Ibrahim Al-Suliman, Esien A. Usanga, Elena Samilchuk
Publikováno v: Blood Cells, Molecules, and Diseases. 31:201-205
Screening of 1080 Kuwaiti male blood donors for glucose-6-phosphate dehydrogenase (G6PD) deficiency revealed this condition in 70 (6.5%) individuals. Mutation analysis of all 70 G6PD deficient samples performed by PCR/RFLP and direct sequencing ident
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70623cf778afec371af45d3b6d563742
https://doi.org/10.1016/s1079-9796(03)00125-6
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4
A Kuwaiti Patient with Osteopetrosis, Renal Tubular Acidosis and Cerebral Calcification is Homozygous for a Splice Junction Mutation in the Carbonic Anhydrase Gene
Autor: Brendan D’Souza, Sadika Al Awadi, Elena Samilchuk
Publikováno v: Medical Principles and Practice. 5:234-237
Osteopetrosis, with renal tubular acidosis and cerebral calcification (ORTACC), is a rare genetic disorder caused by mutations in the carbonic anhydrase II (CAII) gene. Several CAII mutations have been reported, including a splice junction mutation i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::62bb979d34c9c24f78fcef5eadfdc75b
https://doi.org/10.1159/000157412
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5
Poland Syndrome and Associated Dextrocardia in Kuwait
Autor: Nisar A. Kazi, Abla El-Alfi, Talaat I. Farag, Sadika Al Awadi, Mohamed Sabry, Sayed A. Goudah
Publikováno v: Medical Principles and Practice. 4:121-126
During the 15-year period from January 1979 through December 1993, 13 unrelated sporadic cases of Poland syndrome were ascertained in Kuwait. Two of 5 cases (40%) of left-sided Poland syndrome were as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8cd7d39a89add30e6d7debc9ea08e73
https://doi.org/10.1159/000157500
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