Results 81 to 90 of about 231,107 (286)
Perfect phylogeny haplotyper: haplotype inferral using a tree model [PDF]
Bioinformatics, 2003 Abstract Summary: We have developed an efficient program, the Perfect Phylogeny Haplotyper (PPH) that takes in unphased population genotype data, and determines if that data can be explained by haplotype pairs that could have evolved on a perfect phylogeny.
Ren Hua, Chung, Dan, Gusfield
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Molecular and morphological characterization of the tapeworm Taenia hydatigena (Pallas, 1766) in sheep from Iran [PDF]
, 2015 Although Taenia hydatigena is one of the most prevalent taeniid species of livestock, very little molecular genetic information exists for this parasite. Up to 100 sheep isolates of T.
Babaei, Z. +8 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Revista Mexicana de Biodiversidad, 2012 El jaguaroundi, a pesar de su amplia distribución neotropical, es uno de los felinos menos estudiados del continente y se carece de estudios genéticos sobre la especie. Para el estado de Michoacán ha existido la sospecha de su presencia y no obstante que
Tiberio C. Monterrubio-Rico +5 more
doaj
Animal Models and Experimental Medicine, EarlyView.Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni +7 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Clinically relevant Alzheimer's disease co‐pathology is common in Lewy body disorders. Plasma P‐tau217 is a sensitive biomarker for amyloid and tau pathology in Alzheimer's disease. The objective was to determine if plasma P‐tau217 associates with Alzheimer's disease co‐pathology and cognition in Lewy body disorders. Methods Participants had (
Thomas F. Tropea +20 more
wiley +1 more source
Dynamic microsatellites in transcribed regions of gastropod mitochondrial 16S rDNA [PDF]
, 2006 Length variations of repetitive sequences in different AT-rich loop-coding regions of mitochondrial 16S rDNA in two gastropod species were discovered during intraspecific haplotype surveys. Examination of the discrete length variation of the basic repeat
Bugert, Monika, Pfenninger, Markus
core
Annals of Neurology, EarlyView.Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef +18 more
wiley +1 more source