Results 61 to 70 of about 111,740 (256)
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
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
Melatonin Levels in 89 Individuals With Smith Magenis Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Association of miR-146a Gene Polymorphism with Systemic Lupus Erthymatous Disease
Journal of Pure and Applied Microbiology, 2018 The present study was carried out to detect the association of microRNA-146a haplotypes polymorphisms with Systemic lupus erythematous (SLE) in Iraqi patients, PCR-SSCP technique used in present study, blood was used to DNA extraction, the results show ...
Methak Jasim AL-Jboory
doaj +1 more source
Diploid Alignments and Haplotyping [PDF]
, 2015 Sequence alignments have been studied for decades under the simplified model of a consensus sequence representing a chromosome. A natural question is if there is some more accurate notion of alignment for diploid (and in general, polyploid) organisms.
Veli Mäkinen, Daniel Valenzuela 0001
openaire +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
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
Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis
Annals of Neurology, EarlyView.Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding +5 more
wiley +1 more source
Detecting cryptic ghost lineage introgression in four‐taxon genomic datasets
Applications in Plant Sciences, EarlyView.Abstract Premise Hybridization and introgression are pervasive evolutionary forces that have played fundamental roles in shaping the diversity of wild and domesticated plants. Four‐taxon tests for introgression provide a reliable framework for detecting signatures of ancient introgression from genomic data, which have played an important role in ...
Evan S. Forsythe +3 more
wiley +1 more source