Results 31 to 40 of about 11,831 (290)

Assessment of level of Awareness regarding Thalassemia Major among Parents of Affected Children

Journal of Rawalpindi Medical College, 2021
Background: Thalassemia major is amongst the most common genetic disorders in developing countries like Pakistan. This research project aims to assess the level of knowledge among people related to thalassemia and the number of thalassemia cases linked ...
Faizan Fazal, Mateen Arshad, Haris Mustafa, Muhammad Ebad Ur Rehman, Usama Tanveer, Sidra Hamid   +5 more
doaj   +1 more source

Consanguineous marriage, prepregnancy maternal characteristics and stillbirth risk: A population-based case-control study [PDF]

, 2015
Introduction. Consanguineous marriage is associated with increased risks for congenital anomalies, low birthweight, and other adverse perinatal outcomes.
Aarabi, M., Bahmanyar, S., Cnattingius, S., Maghsoudlou, S., Montgomery, S.M., Semnani, S., Stephansson, O., Wikström, A.-K.   +7 more
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
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Parental consanguinity increases the risk of congenital malformations

Rehman Journal of Health Sciences, 2021
Introduction: Congenital malformation is a physical or structural abnormality present either prenatally or after birth. These anomalies are either primary or secondary malformation.
Maheen Gul, Dil Noor, Gulrukh Nazir, Ahsan Saidal, Haji Bahadar   +4 more
doaj   +1 more source

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
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The association between consanguineous marriage and offspring with congenital hearing loss

Annals of Saudi Medicine, 2020
BACKGROUND: Consanguinity is a commonly recognized practice among marriages in the Middle East and may lead to an increase in the prevalence of inherited disorders. Autosomal recessive deafness is the most common form of inherited congenital hearing loss
Aljohara M. Almazroua, Luluh Alsughayer, Rayanh Ababtain, Yazeed Al-shawi, Abdulrahman A. Hagr   +4 more
doaj   +1 more source

On the Adaptive Origins and Maladaptive Consequences of Human Inbreeding: Parasite Prevalence, Immune Functioning, and Consanguineous Marriage

Evolutionary Psychology, 2010
We propose that consanguineous marriages arise adaptively in response to high parasite prevalence and function to maintain coadapted gene complexes and associated local adaptation that defend against local pathogens.
Ashley D. Hoben, Abraham P. Buunk, Corey L. Fincher, Randy Thornhill, Mark Schaller   +4 more
doaj   +1 more source

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

Scientific Reports, 2021
Recurrent miscarriages occur in about 5% of couples trying to conceive. In the past decade, the products of miscarriage have been studied using array comparative genomic hybridization (a-CGH).
Kimia Najafi, Zohreh Mehrjoo, Fariba Ardalani, Siavash Ghaderi-Sohi, Ariana Kariminejad, Roxana Kariminejad, Hossein Najmabadi   +6 more
doaj   +1 more source

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

Molecular Genetics & Genomic Medicine, 2020
Background Consanguineous marriages are common in the Middle East including the Gulf countries. The rate of consanguinity in Qatar is approximately 54%, which are mainly first cousins’ marriages.
Tawfeg Ben‐Omran, Kaltham Al Ghanim, Tarunashree Yavarna, Maha El Akoum, Muthanna Samara, Prem Chandra, Nader Al‐Dewik   +6 more
doaj   +1 more source

The knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran [PDF]

, 2012
Aim: Consanguinity is an important risk factor in genetic diseases and in congenital malformations. This study was done to assess the knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran.
Golalipour, M.J., Keshtkar, A.A., Sedehi, M.   +2 more
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