Results 51 to 60 of about 27,083 (210)

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Diagnostic Pathology, 2011
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate.
Chkioua Latifa, Khedhiri Souhir, Ben Turkia Hadhami, Chahed Henda, Ferchichi Salima, Ben Dridi Marie, Laradi Sandrine, Miled Abdelhedi   +7 more
doaj   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling [PDF]

, 2023
Noura Osman, Kathryn Rice, Herman L. Hedriana, Krishna M. Singh   +3 more
openalex   +1 more source

Parental consanguinity predicts ASD severity [PDF]

, 2019
Jessica Edwards, F Alshaban, M Aldosari, H Al-Shammari, S El-Hag, I Ghazal, M Tolefat, M Ali, M Kamal, N Aati, M Abeidah, A Saad, L Dekair, M Khasawneh, K Ramsay, E Fombonne, N, J, F   +18 more
openalex   +1 more source

Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.

Journal of Biochemical and Clinical Genetics, 2019
Background: Couples who are at risk for having an infant with a serious genetic disorder can benefit from pre-implantation genetic diagnosis (PGD), but many couples still opt for the riskier pre-natal diagnosis (PND). Although couples make this decision
Fawz AlHarthi, Moeen Al Sayed, Ahmed Yaqinuddin, Gulsan Abubakar Karbani, Ameera Salem Blobaid, Monika Maya Wahi   +5 more
doaj   +1 more source

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity [PDF]

, 2014
Fabiana Moura Costa-Motta, Fernanda Bender, Angelina Xavier Acosta, Kiyoko Abe‐Sandes, Taisa Manuela Bonfim Machado, Thaís Ferreira Bomfim, Tatiana Boa Sorte, Danniel da Silva, A.H. Bittles, Roberto Giugliani, Sandra Leistner‐Segal   +10 more
openalex   +1 more source

Consanguinity And Pregnancy Outcome Among Rural Pregnant Women of Belgaum District

National Journal of Community Medicine, 2012
Background: Although unions between close biological relatives are preferred in many parts of South India, there still is a large gap of knowledge of this feature of human kinship structure. So, the present study was conducted to know the prevalence and
Chandra S Metgud, Vijaya A Naik, Maheshwar D Mallapur   +2 more
doaj  

Down syndrome and consanguinity

Journal of Research in Medical Sciences, 2013
Background: Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome.
Amir Akhavan Rezayat, Mohammad Hassanzadeh Nazarabadi, Mohammad Sobhan Sheikh Andalibi, Hossein Mohaddes Ardabili, Maryam Shokri, Salmeh Mirzaie, Lida Jarahi   +6 more
doaj  

Application of whole exome sequencing in carrier screening for high-risk families without probands

Frontiers in Genetics
PurposeThis study aimed to screen the genetic etiology for the high-risk families including those with an adverse pregnancy history, a history of consanguineous marriages, or a history of genetic diseases, but lack of proband via whole exome sequencing ...
Qinlin Huang, Zhongjie Wang, Yanling Teng, Wen Zhang, Juan Wen, Huimin Zhu, Desheng Liang, Lingqian Wu, Lingqian Wu, Zhuo Li   +9 more
doaj   +1 more source

Consanguineous Marriage [PDF]

BMJ, 1963
openaire   +2 more sources

Nouns with the Meaning of Consanguinity in Russian, Turkish and Chinese: Structural and Semantic Characteristics [PDF]

, 2023
Дюзенли, М.В., Кутяева, У.С., Dyuzenli, M.V., Kutiaeva, U.S.   +3 more
openalex   +1 more source