Results 31 to 40 of about 27,083 (210)

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey

Egyptian Journal of Medical Human Genetics
Background Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders ...
Noura Dahbi, Abderrazak El khair, Khadija Cheffi, Lamiaa Habibeddine, Jalal Talbi, Abderraouf Hilali, Hicham El ossmani   +6 more
doaj   +1 more source

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Journal of Biochemical and Clinical Genetics, 2021
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari   +5 more
doaj   +1 more source

Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study

Annals of Saudi Medicine, 2008
Background and Objectives: There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited. The objective of this cross-sectional study was to explore the role of consanguinity in genetic
El Mouzan Mohammad, Al Salloum Abdullah, Al Herbish Abdullah, Qurachi Mansour, Al Omar Ahmad   +4 more
doaj  

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity [PDF]

, 2021
Leila Youssefian, Amir Hossein Saeidian, Fahimeh Palizban, Atefeh Bagherieh, Fahimeh Abdollahimajd, Soheila Sotoudeh, Nikoo Mozafari, Rahele A. Farahani, Hamidreza Mahmoudi, Sadegh Babashah, Masoud Zabihi, Sirous Zeinali, Paolo Fortina, Julio C. Salas‐Alanís, Andrew P. South, Hassan Vahidnezhad, Jouni Uitto   +16 more
openalex   +1 more source

Tetra-Phocomelia: The Seal Limb Deformity - A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3 P2 L2 A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits.
Sunil Kumar Samal, Setu Rathod, Seetesh Ghose   +2 more
doaj   +1 more source

The effect of Consanguineous Marriages on Congenital Malformation

Journal of Research in Medical Sciences, 2005
Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%.
A Mehrabi Kushki, B Zeyghami
doaj  

Risk factors predisposing to congenital heart defects

Annals of Pediatric Cardiology, 2011
Introduction: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal ...
Faheem Ul Haq, Fatima Jalil, Saman Hashmi, Maliha Iqbal Jumani, Aamer Imdad, Mehnaz Jabeen, Javad Tauseef Hashmi, Furqan Bin Irfan, Muhammad Imran, Mehnaz Atiq   +9 more
doaj   +1 more source

A case report of a child with Wolcott-Rallison syndrome

Sri Lanka Journal of Medicine, 2019
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder. It is characterized by neonatal/ early onset non-autoimmune insulin dependent diabetes (permanent neonatal diabetes mellitus-PNDM) associated with spondyloepiphyseal dysplasia ...
S. P. N. Weerasekara, W. M. M. Arambepola   +1 more
doaj   +1 more source

Youth consanguinity in relation to sociodemographic and women-related fertility factors in the Arab society of Israel [PDF]

, 2023
Abdelnaser Zalan, Mohammad Nimer Khatib, Ahmad Abed Sheikh-Muhammad, Muhammad Mahajnah, Rajech Sharkia   +4 more
openalex   +1 more source