Results 81 to 90 of about 2,455 (150)

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

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, Massimo Gennarelli, Alessandra Minelli, Rita Gardella, Paolo Valsecchi, Michele Traversa, Cristian Bonvicini, Antonio Vita, Emilio Sacchetti, Chiara Magri   +9 more
doaj   +1 more source

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Annals of Saudi Medicine, 2015
BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome.
Seda Orenay-Boyacioglu, Mustafa Tekin, Munis Dundar   +2 more
doaj   +1 more source

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10

, 2007
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure.
Maher, ER, Johnson, CA, Macdonald, F, MacDonald, Fiona, Banin, E, Maher, Eamonn, Stone, EM, Ahmed, S, Pasha, Shanaz, Trembath, RC, Smith, UM, Johnson, Colin, White, DRA, Rattenberry, E, Rajab, A, Nishimura, D, Raeburn, S, Pasha, S, Sheffield, VC, Stone, ED, Ganesh, A, White, DRE   +21 more
core   +1 more source

Additional file 2: of Autozygosity islands and ROH patterns in Nellore lineages: evidence of selection for functionally important traits

, 2018
Autozygosity islands within the Nellore lineages by chromosome: Karvadi (red), Golias (Black), Godhavari (Green), Taj Mahal (blue), Akasamu (purple), and Nagpur (yellow).
Jason Osterstock (5754980), Fabieli Feitosa (3508652), Cláudio de Ulhoa Magnabosco (4476511), Sabrina Kluska (5754971), Elisa Peripolli (3508655), Mariana Berton (3508631), Fernando Di Croce (5754977), Angélica Pereira (3508634), Nedenia Stafuzza (3462848), Julia Metzger (149151), Marcos de Lemos (3508601), Sue Denise (5754983), Fernando Baldi (2833280), Danísio Munari (3407825), Bianca Olivieri (3508616), Fernando Lopes (559313), Raysildo Lôbo (5754974)   +16 more
core   +1 more source

Additional file 7: of Autozygosity islands and ROH patterns in Nellore lineages: evidence of selection for functionally important traits

, 2018
Gene Ontology terms annotation analysis enriched (P 
Jason Osterstock (5754980), Fabieli Feitosa (3508652), Cláudio de Ulhoa Magnabosco (4476511), Sabrina Kluska (5754971), Elisa Peripolli (3508655), Mariana Berton (3508631), Fernando Di Croce (5754977), Angélica Pereira (3508634), Nedenia Stafuzza (3462848), Julia Metzger (149151), Marcos de Lemos (3508601), Sue Denise (5754983), Fernando Baldi (2833280), Danísio Munari (3407825), Bianca Olivieri (3508616), Fernando Lopes (559313), Raysildo Lôbo (5754974)   +16 more
core   +1 more source

Relationships between estimated autozygosity and complex traits in the UK Biobank.

PLoS Genetics, 2018
Inbreeding increases the risk of certain Mendelian disorders in humans but may also reduce fitness through its effects on complex traits and diseases. Such inbreeding depression is thought to occur due to increased homozygosity at causal variants that ...
Emma C Johnson, Luke M Evans, Matthew C Keller   +2 more
doaj   +1 more source

Whole exome sequencing of schizophrenia patients with high level of autozygosity.

, 2014
Despite an estimated heritability up to 80% the genetic architecture of schizophrenia (SZ) remains unclear. Only about 32% of the genetic variability of schizophrenia has been attributed to common susceptibility alleles, this implying that other genetic
TRAVERSA, Michele, SACCHETTI, Emilio, GENNARELLI, Massimo, GARDELLA, Rita, BORSANI, Giuseppe, BARLATI, Sergio, VALSECCHI, Paolo, MAGRI, Chiara, GIACOPUZZI, Edoardo   +8 more
core  

Pedigree of Standard Schnauzers used for linkage analysis and autozygosity mapping.

, 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), Kaisa Kyöstilä (158442), Vidhya Jagannathan (13914), Enrice Hünerfauth (7465625), Hannes Lohi (102236), Tosso Leeb (81674), Wolfgang Baumgärtner (148965), Andrea Tipold (192569), Theresa Störk (7465622), Jasmin Nessler (438116), Isabelle Schmutz (217046)   +10 more
core   +1 more source

Genomic characterization of autozygosity in South African Merino sheep

Dissertation (MSc (Animal Science))--University of Pretoria, 2024.The South African (SA) Merino is a medium-framed, white wool breed, and is one of the most prominent breeds in the SA sheep industry.

core   +1 more source

Homozygous Nonsense <i>DSP</i> Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings. [PDF]

J Clin Med
Al-Mutairi DA, Al-Qbandi MA, AlTurki A, Naief AA, Helms AS.   +4 more
europepmc   +1 more source