Nermin Ahmad
Overview
Explore the profile of Nermin Ahmad including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
35
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0
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Recent Articles
1.
Al-Haggar M, Salem N, Wahba Y, Ahmad N, Jonard L, Abdel-Hady D, et al.
Pediatr Diabetes
. 2014 Jun;
16(4):305-16.
PMID: 24894595
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...
2.
Al-Haggar M, Ahmad N, Yahia S, Shams A, Hasaneen B, Hassan Hassan R, et al.
Case Rep Genet
. 2013 Feb;
2013:834605.
PMID: 23424689
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...
3.
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki J, Yahia S, Abdel-Hadi D, et al.
Eur J Hum Genet
. 2012 May;
20(11):1134-40.
PMID: 22549407
Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous...
4.
Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P
Indian J Pediatr
. 2010 Oct;
78(1):103-5.
PMID: 20924721
Objective: To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with...