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» Authors » Alaa Elshafey

Alaa Elshafey

Explore the profile of Alaa Elshafey including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 67
Followers 0
Related Specialties
Genetics
General Medicine
Oncology
Top 10 Co-Authors
Majid Fardaei
Merviel Philippe
Volkan Ulker
Kristin P Nunez
Suad AlFadhli
Fatemeh Hadipour
Aysenur Kavasoglu
Zahra Hadipour
Mayra C G Rivas
Ramesh Reddy
Published In
Eur J Hum Genet
Arch Pathol Lab Med
Fam Cancer
Saudi J Gastroenterol
Am J Ophthalmol
Affiliations
Soon will be listed here.
Recent Articles
1.
polymorphisms (P268S, IVS8, G908R, L1007fs, R702W) among Kuwaiti patients with Crohn's disease: A case-control study
Abdelnaby H, Ndiaye N, DAmico F, Fouad A, Hassan S, Elshafey A, et al.
Saudi J Gastroenterol . 2021 Aug; 27(4):249-256. PMID: 34341249
Background: Nucleotide-binding oligomerization domain-containing two (NOD2/CARD15) gene polymorphisms are implicated in the pathogenesis of Crohn's disease (CD). Aim: To describe the allelic frequency of NOD2/CARD15 gene variants among Kuwaiti patients...
2.
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine
Mohammed F, Elshafey A, Al-Balool H, Alaboud H, Al Ben Ali M, Baqer A, et al.
PLoS One . 2018 May; 13(5):e0197205. PMID: 29847600
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by...
3.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Reddy R, Nguyen N, Sarrabay G, Rezaei M, Rivas M, Kavasoglu A, et al.
Eur J Hum Genet . 2016 Sep; 24(10):1516. PMID: 27628567
No abstract available.
4.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
Reddy R, Nguyen N, Sarrabay G, Rezaei M, Rivas M, Kavasoglu A, et al.
Eur J Hum Genet . 2016 Mar; 24(10):1445-52. PMID: 26956250
NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the...
5.
Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing
Marafie M, Al-Awadi S, Al-Mosawi F, Elshafey A, Al-Ali W, Al-Mulla F
Fam Cancer . 2009 Aug; 8(4):289-98. PMID: 19669601
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is one of the commonest cancer susceptibility syndromes. It is characterized by early onset colon cancer and a variety of extracolonic tumours....
6.
Hypoparathyroidism[corrected]-retardation-dysmorphism (HRD): is there a new variant not caused by a TBCE mutation?
Naguib K, Elshafey A, Gouda S, Mohammad F
Am J Med Genet A . 2007 Jan; 143A(3):301-2. PMID: 17219390
No abstract available.
7.
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
AlFadhli S, Behbehani A, Elshafey A, Abdelmoaty S, Al-Awadi S
Am J Ophthalmol . 2006 Feb; 141(3):512-6. PMID: 16490498
Purpose: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG). Design: Clinical diagnosis of PCG and laboratory based experimental study. Methods: Polymerase chain...
8.
Molecular characterization of glucose-6-phosphate dehydrogenase gene defect in the Kuwaiti population
AlFadhli S, Kaaba S, Elshafey A, Salim M, AlAwadi A, Bastaki L
Arch Pathol Lab Med . 2005 Aug; 129(9):1144-7. PMID: 16119988
Context: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies. More than 130 different molecular abnormalities have been described worldwide, with considerable variation in the enzyme...