Zobrazeno 1 - 10 of 52 pro vyhledávání: '"Nadia A. Sakati"'
1
Akademický článek
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
Autor: Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz
Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. Case presentation We have assessed one consanguineo
Externí odkaz: https://doaj.org/article/6e486e137aad4bb1aa8d5d062534e769
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3
Akademický článek
Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia
Autor: Raouf M Seyam, Nabil K Bissada, Mohamed Abdul-Aaly, Nadia A Sakati, Waleed Al Taweel, Waleed K Alkhudair
Publikováno v: Urology Annals, Vol 5, Iss 4, Pp 277-282 (2013)
Objectives: There is a paucity of data on the long-term outcome of genital reconstruction of female children with congenital adrenal hyperplasia (CAH) as they become adult women. We report on the surgical outcome general condition and marriage status
Externí odkaz: https://doaj.org/article/180153d1522e4db5bfe24e9e4dd5fb89
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4
Combined TSC1 and LMX1B mutations in a single patient
Autor: Ola Khalifa, Nadia Al-Sakati, Zuhair N. Al-Hassnan, Khalid Al-Mane, Ameera Balobaid
Publikováno v: Clinical Dysmorphology. 23:47-51
Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorde
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df670c53d6076110c8b6261613176c0
https://doi.org/10.1097/mcd.0000000000000025
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5
Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation
Autor: Mohammed Al-Owain, Nadia Al-Sakati, Alain Verloes, Faiqa Imtiaz, Khalid Al-Manea, Ola Khalifa
Publikováno v: European Journal of Pediatrics. 170:121-126
Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0884dbb8ba95eeade14ec307e0fd3aa
https://doi.org/10.1007/s00431-010-1298-0
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6
Johanson-Blizzard syndrome in a large inbred kindred with three involved members
Autor: Nadia A. Sakati, William L. Nyhan, Mohamed K. Mardini, M. Ghandour
Publikováno v: Clinical Genetics. 14:247-250
An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorpt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379852fdb718b45e34f9a4202f325777
https://doi.org/10.1111/j.1399-0004.1978.tb02141.x
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8
Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy
Autor: Bassam S, Bin-Abbas, Nadia A, Sakati, Hussein, Raef, Abdullah A, Al-Ashwal
Publikováno v: Saudi medical journal. 26(6)
To assess the efficacy and effectiveness of continuous subcutaneous insulin infusion (CSII) therapy in type 1 diabetic Saudi children in comparison with conventional insulin (CI) therapy.Continuous subcutaneous insulin infusion was initiated in 14 Sa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b9daf54e1e49716d708e3504dc70f7e9
https://pubmed.ncbi.nlm.nih.gov/15983674
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10
The syndrome of septo-optic dysplasia in Saudi children
Autor: Bassam S, Bin-Abbas, Abdullah A, Al-Ashwal, Ibrahim A, Al-Alwan, Mohammad H, Al-Qahtani, Angham N, Al-Mutair, Nadia A, Sakati
Publikováno v: Saudi medical journal. 25(11)
To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism.All patients underwent complete ophthalmological and endocrinologi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db986cb9421738b10e19ca90db999f53
https://pubmed.ncbi.nlm.nih.gov/15573200
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