Basamat Almoallem
Overview
Explore the profile of Basamat Almoallem including associated specialties, affiliations and a list of published articles.
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10
Citations
64
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Recent Articles
1.
Del Pozo-Valero M, Almoallem B, Duenas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, et al.
Clin Genet
. 2024 Mar;
106(2):127-139.
PMID: 38468396
Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES)...
2.
Almulhim A, Almoallem B, Alsirrhy E, Osman E
World J Clin Cases
. 2023 Jul;
11(19):4635-4639.
PMID: 37469722
Background: Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach...
3.
Alkhalifah M, AlMezaine H, Almoallem B
Ophthalmic Genet
. 2023 Apr;
45(1):59-62.
PMID: 37017251
Purpose: Chronic keratoconjunctivitis is a rare presentation of autoimmune polyglandular syndrome type 1 (APS-1) during the first year of life. Herein, We report a case of a 10-month-old baby girl...
4.
Almoallem B, Alharthi E
Ophthalmic Genet
. 2022 Feb;
43(3):425-429.
PMID: 35188035
Case Description: A 12-year-old boy with a history of decreased vision and photophobia since he was 1 year old. Comprehensive clinical and molecular approaches were applied to evaluate his condition...
5.
Jamjoom H, Osman M, Almoallem B, Osman E
Eur J Ophthalmol
. 2020 Nov;
32(1):NP66-NP70.
PMID: 33147988
Introduction: Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia. Case Description: A 4-day...
6.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, et al.
Am J Hum Genet
. 2020 Sep;
107(3):580.
PMID: 32888510
No abstract available.
7.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, et al.
Am J Hum Genet
. 2020 May;
106(6):859-871.
PMID: 32470375
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive...
8.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, et al.
Sci Rep
. 2020 Jan;
10(1):1289.
PMID: 31992737
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities....
9.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Mayer A, Mahajnah M, Thomas M, Cohen Y, Habib A, Schulze M, et al.
Brain
. 2019 Apr;
142(6):1528-1534.
PMID: 31009037
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no...
10.
Almoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, et al.
Invest Ophthalmol Vis Sci
. 2015 Feb;
56(3):1701-10.
PMID: 25678693
Purpose: Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile nystagmus. Up to date, three X-linked loci have been identified, Xp11.4-p11.3...