Results 111 to 120 of about 209,468 (302)
, 2012 The haplotype frequencies were comparable to those specified in the CEU HapMap dataset. Subjects did not differ in terms of age, post-mortem interval, RNA integrity number, or brain tissue pH. Values represent mean ± standard deviation.
Erika Freemantle (143658) +3 more
core +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.This study employed nanopore long‐read sequencing to achieve single‐base‐pair resolution breakpoint mapping in azoospermic patients with chromosomal balanced translocations, revealing cryptic breakpoints and an inverted insertion undetectable by conventional karyotyping.
Jian Zhang +3 more
wiley +1 more source
Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment
JEADV Clinical Practice, EarlyView.ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley +1 more source
Overview of SNPs and haplotype definitions.
, 2015 MAF = minor allele frequencya Haplotype block is identical to the haplotype block defined as “Tag SNPs 2–6” in von Otter, et al.Overview of SNPs and haplotype definitions.
Stephen A. Wood (215371) +6 more
core +1 more source
DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort
Movement Disorders, EarlyView.Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila +11 more
wiley +1 more source
, 2019 Locality, geographic and haplotype information for samples used in CO1 haplotype analysis including haplotype distribution and diversity statistics.
Dwayne D. Hegedus (1945678) +6 more
core +1 more source
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
Movement Disorders, EarlyView.Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton +17 more
wiley +1 more source
Haplotype-Based Genotyping in Polyploids
, 2018 Accurate identification of polymorphisms from sequence data is crucial to unlocking the potential of high throughput sequencing for genomics. Single nucleotide polymorphisms (SNPs) are difficult to accurately identify in polyploid crops due to the ...
Peggy Ozias-Akins +4 more
core +1 more source
GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations
Movement Disorders, EarlyView.Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay +37 more
wiley +1 more source
Cross‐Cohort Evidence Links KCNJ6 rs702859 to Impulsive–Compulsive Phenotypes in Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Impulse control disorders (ICDs) and related compulsive behaviors (CBs) are frequent non‐motor complications of Parkinson's disease (PD) with a probable genetic contribution. Objective To investigate whether genetic variants involved in reward and punishment processing are associated with impulsive–compulsive phenotypes in PD ...
Sergio García‐Díaz +21 more
wiley +1 more source