Results 131 to 140 of about 4,000 (206)

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

Bioinform., 2016
Summary: FILTUS is a stand-alone tool for working with annotated variant files, e.g. when searching for variants causing Mendelian disease. Very flexible in terms of input file formats, FILTUS offers efficient filtering and a range of downstream ...
M. D. Vigeland, Kristina S. Gjøtterud, K. Selmer   +2 more
semanticscholar   +1 more source

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm [PDF]

, 2017
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood ...
Abouzeid, Hana, Baier, Herwig, Bardakjian, Tanya, Choi, Alex, de Preux, Anne-Sophie, El Sada, Mohamad, Gawdat, Ghada, Jorgenson, Eric, Schneider, Adele, Schorderet, Daniel F., Slavotinek, Anne M., Xiao, Tong, Yahyavi, Mani   +12 more
core  

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. [PDF]

Journal of Medical Genetics, 1993
R F, Mueller, D T, Bishop
openaire   +2 more sources

Genetics of Non-Syndromic Autosomal Recessive Mental Retardation [PDF]

, 2013
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more
Afroze, Bushra, Chaudhry, Bushra
core   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]

, 2017
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana, Alkuraya, Fowzan S., Almoisheer, Agaadir, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Faqeih, Eissa, Hashem, Amal, Holder, Isabel, Lausch, Ekkehart, Mitchison, Hannah M., Schmidts, Miriam, Shaheen, Ranad, Superti-Furga, Andrea   +13 more
core  

detectRUNS: Detect runs of homozygosity and runs of heterozygosity in diploid genomes [PDF]

, 2018
detectRUNS is a R package for the detection of runs of homozygosity (ROH/ROHom) and of heterozygosity (ROHet, a.k.a. “heterozygosity-rich regions”) in diploid genomes. ROH/ROHom were first studied in humans (e.g. McQuillan et al.
Biscarini, Filippo, Cozzi, Paolo, Gaspa, Giustino, Marras, Gabriele   +3 more
core   +1 more source

Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts. [PDF]

Am J Hum Genet, 2023
Colbert SMC, Wendt FR, Pathak GA, Helmer DA, Hauser ER, Keller MC, Polimanti R, Johnson EC.   +7 more
europepmc   +1 more source

239. Partitioning of autozygosity in different age-based classes in cattle populations with different demographic histories

Proceeding of 12th World Congress on Genetics Applied to Livestock Production (WCGALP), 2022
T. Druet, L. Flori, M. Gautier
semanticscholar   +1 more source

Identification of homozygosity-rich regions in the Holstein genome. [PDF]

Vavilovskii Zhurnal Genet Selektsii, 2023
Smaragdov MG.
europepmc   +1 more source

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window. [PDF]

Mol Neurobiol
Owrang D, Rad A, Alerasool M, Kolb SM, Lin SJ, Doll J, Alidadiani N, Ghaderi S, Hofrichter MAH, Maroofian R, Varshney GK, Mojarrad M, Bartsch O, Haaf T, Vona B.   +14 more
europepmc   +1 more source