Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study

Autor: Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M

Publikováno v: The Application of Clinical Genetics, Vol Volume 17, Pp 151-158 (2024)

Lamia K Alshamlani,1 Dana S Alsulaim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi

Externí odkaz: https://doaj.org/article/f116f5e009874c479d34b9dea1462e8b

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders

Autor: Cristina Skrypnyk, Rawan AlHarmi

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

BackgroundRare genetic disorders may result in death before a definitive clinical diagnosis is established.AimThis study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare

Externí odkaz: https://doaj.org/article/053c7f000d8d4e9bb12f3aeef5013c09

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Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD

Autor: Vinayasree. C, Mohan Naidu. K, Muralinath. E, Amrutham Sandeep, Venkat Naveen. A, Guruprasad. M, Sravani Pragna. K

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested by the impaired catabolism of certain amino acids. This disorder results in the collection of toxic substances in the body, leading to a range of symptoms and complica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e14a98f76d43e83cfdc5d1984ce5c6

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

Autor: Han G. Brunner, Ephrat Levy-Lahad, Chris Tyler-Smith, Massimo Mezzavila, Christian Gilissen, Reedik Mägi, Andres Metspalu, Yali Xue, Reidar Andreson, Shai Carmi, Hila Fridman, Helger G. Yntema

Publikováno v: American Journal of Human Genetics, 108, 608-619
American Journal of Human Genetics, 108(4), 608-619. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 4, pp. 608-619

The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6447 exome-sequences of healthy, genetically-unrelated Europeans of two distinct ancestries, we estimate that every i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e334b350d75a8cfb4f615b5bac15f7
https://doi.org/10.1016/j.ajhg.2021.03.004