Orphanet Journal of Rare Diseases, 2020 Background Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC)
Maryam Eghbali +10 more
doaj +1 more source
Genomic Monitoring of a Reintroduced Butterfly Uncovers Contrasting Founder Lineage Survival
Evolutionary Applications, Volume 18, Issue 2, February 2025.ABSTRACT Genetic factors can have a major influence on both short‐ and long‐term success of reintroductions. Genomic monitoring can give a range of insights into the early life of a reintroduced population and ultimately can help to avoid wasting limited conservation resources.
Georgina Halford +8 more
wiley +1 more source
PLoS Genetics, 2016 It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia.
Emma C Johnson +33 more
doaj +1 more source
Clinical applications of Genome Polymorphism Scans
Biology Direct, 2006 Applications of Genome Polymorphism Scans range from the relatively simple such as gender determination and confirmation of biological relationships, to the relatively complex such as determination of autozygosity and propagation of genetic information ...
Weber James L
doaj +1 more source
Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease [PDF]
, 2020 Prior work in late-onset Alzheimer's disease (LOAD) has resulted in discrepant findings as to whether recent consanguinity and outbred autozygosity are associated with LOAD risk.
Scelsi, MA +4 more
core
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel [PDF]
, 2011 Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases.
Eiberg, Hans +15 more
core +1 more source
Recent artificial selection in U.S. Jersey cattle impacts autozygosity levels of specific genomic regions [PDF]
, 2015 Background: Genome signatures of artificial selection in U.S. Jersey cattle were identified by examining changes in haplotype homozygosity for a resource population of animals born between 1953 and 2007.
Sonstegard, Tad +5 more
core +2 more sources
PLoS ONE, 2017 Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases.
Edoardo Giacopuzzi +9 more
doaj +1 more source
Pedigree of Standard Schnauzers used for linkage analysis and autozygosity mapping. [PDF]
, 2019 Filled symbols represent dogs with leukodystrophy. For a better overview, the pedigree was drawn only with a subset of the closely related dogs. Two litters with a total of four affected dogs and their parents were used for linkage analysis.
Linda Anderegg (7340240) +10 more
core +1 more source
Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness [PDF]
, 1998 SummaryWe describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness.
Moynihan, Leanne M. +7 more
core +1 more source