Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Dina Abdel Hady"'
3
Akademický článek
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature
Autor: Mohammad Al-Haggar, Nermin Ahmad, Sohier Yahia, Amany Shams, Bothina Hasaneen, Rasha Hassan Hassan, Yahya Wahba, Nanees Abdel-Badie Salem, Dina Abdel-Hady
Publikováno v: Case Reports in Genetics, Vol 2013 (2013)
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth
Externí odkaz: https://doaj.org/article/165127ac9c494a308f5c8aa7c6f85b91
Zobrazit plný text záznamu
4
Novel homozygousSLC29A3mutations among two unrelated Egyptian families with spectral features of H-syndrome
Autor: Yahya Wahba, Nermin Ahmad, Nanees Salem, Amira Kamal El-Hawary, Dina Abdel-Hady, Mohammad Al-Haggar, Ashraf A. Elsharkawy, Amany El-Hawary, Abdel-Rhman Eid, Laurence Jonard
Publikováno v: Pediatric Diabetes. 16:305-316
Objectives H syndrome and pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) had been described as two autosomal recessive disorders. We aim to screen for pathogenic SLC29A3 mutations in two unrelated Egyptian families with affe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e27c39f2d0c6105d71730e4cc92c8e05
https://doi.org/10.1111/pedi.12160
Zobrazit plný text záznamu
5
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation inACVR1Gene: A Case Report and Review of Literature
Autor: Yahya Wahba, Nanees Salem, Sohier Yahia, Nermin Ahmad, Bothina Hasaneen, Amany Shams, Rasha H. Hassan, Mohammad Al-Haggar, Dina Abdel-Hady
Publikováno v: Case Reports in Genetics
Case Reports in Genetics, Vol 2013 (2013)
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6de0a689d3cae321bfe5da30b9503a
https://doi.org/10.1155/2013/834605
Zobrazit plný text záznamu
6
Angiotensin-converting enzyme insertion/deletion gene polymorphism in Egyptian children with systemic lupus erythematosus: a possible relation to proliferative nephritis
Autor: A Shouma, Wafaa Laimon, R Ghanem, Dina Abdel-Hady, Ayman Hammad, E M Hammad, Sohier Yahia, Sahar Hamed, Sherif R. El-Bassiony, Reham M. El-farahaty, N M Shalaby
Publikováno v: Lupus. 26(7)
Introduction Angiotensin-converting enzyme (ACE) is crucial in the pathogenesis of systemic lupus erythematosus through angiotensin II which regulates vascular tone and endothelial functions. Objectives To study the frequency of ACE insertion/deletio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7259eaf30a3bb5cf3b857a4d63ddc9ee
https://pubmed.ncbi.nlm.nih.gov/27956582
Zobrazit plný text záznamu
8
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family
Autor: Othman E. Soliman, Afaf Al-Said, Sohier Yahia, Ahmad Darwish, Ashraf Bakr, Dina Abdel-Hady, Toshihiro Tajima, Ayman Hammad, Mohammad Al-Haggar, Kenji Fujieda
Publikováno v: Clinical and experimental nephrology. 13(4)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure, depending upon the extent of nephrocalcinosis. Its basic pathogenesis is impaired tub
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff1836f1c49db047f37e8d9f5915cf7
https://pubmed.ncbi.nlm.nih.gov/19165416
Zobrazit plný text záznamu
9
Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt
Autor: Dina Abdel-Hady, Rasha Al-Kenawy, Sohier Yahia, Afaf Al-Saied, Rabab Abo-El-Kasem, Mohammad Al-Haggar
Publikováno v: Indian Journal of Human Genetics
BACKGROUND: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations. OBJECTIVES: The objecti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c97609530b8ff8d39a1f829438b1382
https://doi.org/10.4103/0971-6866.132755
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje