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Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFSociodemographic Factors and Consanguinity in Intellectual Disability: A Pilot Study.
Innov Clin Neurosci
December 2024
All authors are with Intelligent Automation and BioMed Genomics Laboratory, Faculty of Sciences and Techniques of Tangier, Abdelmalek Essaadi University in Tangier, Morocco.
Objective: Arab populations have a long tradition of consanguinity. In Morocco, consanguineous marriages are culturally favored. In this study, we assessed the effect of consanguinity on the occurrence of intellectual disability (ID) and investigated its association to education level and professional status in a series of Moroccan families.
View Article and Find Full Text PDF[Pedigree analysis of novel missense mutations causing hereditary coagulation factor Ⅴ deficiency].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFConsanguinity and hearing loss prevalence among Saudi Arabia population.
Int J Pediatr Otorhinolaryngol
December 2024
Department of Otolaryngology-Head and Neck Surgery, Imam Mohammad Ibn Saud Islamic University (IMSIU), Riyadh, Saudi Arabia. Electronic address:
Background: Childhood hearing loss (CHL) is a condition that can have a variety of causes, including genetic and environmental and its prevalence is thought to be high in Saudi Arabian population mainly due to consanguineous unions. This systematic literature review aims to conclude the prevalence of hereditary hearing loss and its risk factors among the Saudi population.
Methods: In September 2023, a thorough search was performed on the PubMed, CENTRAL, MEDLINE, and EMBASE databases.
Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.
J Mol Diagn
December 2024
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon; (‡)Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon. Electronic address:
Consanguinity, prevalent in certain populations because of cultural and social factors, significantly increases the risk of genetic autosomal recessive disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common.
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