Selwa A F Al-Hazzaa
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Explore the profile of Selwa A F Al-Hazzaa including associated specialties, affiliations and a list of published articles.
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11
Citations
275
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Recent Articles
1.
Barakat A, Mobarak O, Javaid H, Awad M, Hamweyah K, Ouban A, et al.
Front Med (Lausanne)
. 2023 Dec;
10:1303300.
PMID: 38076258
Introduction: Diabetic retinopathy (DR) is the leading cause of preventable blindness in Saudi Arabia. With a prevalence of up to 40% of patients with diabetes, DR constitutes a significant public...
2.
Ramzan K, Al-Numair N, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa S, et al.
Genes (Basel)
. 2020 Dec;
11(12).
PMID: 33316915
Mutant alleles of , a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive nonsyndromic hearing loss (NSHL) and Usher syndrome 1D...
3.
Dirar Q, Musalem H, Al-Hazzaa S, Al Zoba A, Almalki A
Am J Case Rep
. 2020 Apr;
21:e921301.
PMID: 32251268
BACKGROUND Xeroderma pigmentosum (XP) is an autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations include extreme sensitivity to ultraviolet (UV) rays, freckle-like pigmentation, ocular abnormalities, and...
4.
Musalem H, Dirar Q, Al-Hazzaa S, Al Zoba A, El-Mansoury J
Am J Case Rep
. 2018 Apr;
19:500-504.
PMID: 29703882
BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital...
5.
Ramzan K, Al-Owain M, Huma R, Al-Hazzaa S, Al-Ageel S, Imtiaz F, et al.
Int J Pediatr Otorhinolaryngol
. 2018 Apr;
108:17-21.
PMID: 29605349
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common...
6.
Patel N, Aldahmesh M, Alkuraya H, Anazi S, Alsharif H, Khan A, et al.
Genet Med
. 2015 Sep;
18(6):554-62.
PMID: 26355662
Purpose: Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large...
7.
Ramzan K, Taibah K, Tahir A, Al-Tassan N, Berhan A, Khater A, et al.
Eur J Med Genet
. 2014 Apr;
57(6):253-8.
PMID: 24768815
Hearing impairment is the common human sensorineural disorder and is a genetically heterogeneous phenotype for which more than 100 genomic loci have been mapped so far. ILDR1 located on chromosome...
8.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa S, et al.
Int J Pediatr Otorhinolaryngol
. 2014 Jan;
78(3):427-32.
PMID: 24398087
Introduction: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS)...
9.
Zahrani F, Aldahmesh M, Alshammari M, Al-Hazzaa S, Alkuraya F
Am J Hum Genet
. 2013 Mar;
92(3):387-91.
PMID: 23453665
Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis...
10.
Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan A, Al-Owain M, et al.
Genome Res
. 2012 Oct;
23(2):236-47.
PMID: 23105016
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized...