The determinants of consanguineous marriages among the Arab population: a systematic review

K El Goundali, M Chebabe… - Iranian Journal of …, 2022 - pmc.ncbi.nlm.nih.gov
Background: Inbreeding continues to account for a significant proportion of marriages
among the Arab populations. Consanguinity is recognized in many studies as a significant …

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

S Edvardson, L Prunetti, A Arraf, D Haas… - European Journal of …, 2017 - nature.com
Post-transcriptional tRNA modifications are numerous and require a large set of highly
conserved enzymes in humans and other organisms. In yeast, the loss of many …

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

N Rumman, MR Fassad, C Driessens… - ERJ Open …, 2023 - publications.ersnet.org
Background Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in
Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the …

Assessment of perceptions and predictors towards consanguinity: a cross-sectional study from Palestine

M Ghanim, R Mosleh, A Hamdan, J Amer… - Journal of …, 2023 - Taylor & Francis
Background/Aim Consanguinity represents a biological relationship between two
individuals. In clinical genetics, it specifically refers to the marriage between individuals who …

Assessment of genetic familiarity and genetic knowledge among Palestinian university students

M Rabayaa, M Ghanim, Y Saleh, M Abuawad… - BMC Medical …, 2024 - Springer
Background and aims Genetic knowledge and familiarity among the population represent
the lane toward effective participation in social decisions regarding genetic issues. This …

Mutations in TRAPPC12 manifest in progressive childhood encephalopathy and Golgi dysfunction

MP Milev, ME Grout, D Saint-Dic, YHH Cheng… - The American Journal of …, 2017 - cell.com
Progressive childhood encephalopathy is an etiologically heterogeneous condition
characterized by progressive central nervous system dysfunction in association with a broad …

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

S Edvardson, Y Murakami, TTM Nguyen… - Journal of medical …, 2017 - jmg.bmj.com
Background Of our 1400 exome-studied patients, 67% originate from consanguineous
families.∼ 80% suffer from variable degree of intellectual disability (ID). The search for …

Hematological and biochemical evaluation of β-thalassemia major (βTM) patients in Gaza Strip: A cross-sectional study

H Ayyash, M Sirdah - International journal of health sciences, 2018 - pmc.ncbi.nlm.nih.gov
Objectives In Gaza Strip, Palestine, β-thalassemia is a major public health problem where
more than 300 β-thalassemia major (βTM) patients are currently being managed at …

'No one should be terrified like I was!'Exploring drivers and impacts of child marriage in protracted crises among Palestinian and Syrian refugees

BA Hamad, S Elamassie, E Oakley, S Alheiwidi… - The European Journal of …, 2021 - Springer
Exacerbated by 9 years of conflict and displacement, child marriage among Syrian refugees
appears to be increasing, while in Gaza, the noticeable reduction in child brides over the …

Genetic analysis of osteogenesis imperfecta in the P alestinian population: molecular screening of 49 affected families

O Essawi, S Symoens, M Fannana… - Molecular genetics & …, 2018 - Wiley Online Library
Background Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue
disorder clinically hallmarked by increased susceptibility to bone fractures. Methods We …