Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly
Sign Up to like & getrecommendations! Published in 2019 at "Developmental Dynamics"
DOI: 10.1002/dvdy.89
Abstract: Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. read more here.
Keywords: exome sequencing; family; nonsyndromic polydactyly; sequencing reveals ... See more keywords
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations
Sign Up to like & getrecommendations! Published in 2017 at "Clinical and Experimental Nephrology"
DOI: 10.1007/s10157-017-1478-6
Abstract: BackgroundGenetic susceptibility to atypical hemolytic uremic syndrome (aHUS) may lie within genes regulating or activating the alternate complement and related pathways converging on endothelial cell activation.MethodsWe tested 32 Indian patients of aHUS negative for antibodies… read more here.
Keywords: variation; patients variations; variations patients; reveals multiple ... See more keywords
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0007-7
Abstract: PurposeTo examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes.MethodsOne hundred and seventy patients with ataxia of unknown etiology referred from clinics… read more here.
Keywords: range ataxia; analysis; related phenotypes; ataxia related ... See more keywords
Identification of novel genes by targeted exome sequencing in Retinoblastoma
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2106497
Abstract: ABSTRACT Background Retinoblastoma (RB) is initiated by mutation in both alleles of RB1 gene. However, few cases may occur even in the absence of RB1 mutation suggesting the role of genes other than RB1. Methodology… read more here.
Keywords: dna; retinoblastoma; mutation; blood ... See more keywords
Evaluation of targeted exome sequencing for 28 protein‐based blood group systems, including the homologous gene systems, for blood group genotyping
Sign Up to like & getrecommendations! Published in 2017 at "Transfusion"
DOI: 10.1111/trf.14054
Abstract: Blood group single nucleotide polymorphism genotyping probes for a limited range of polymorphisms. This study investigated whether massively parallel sequencing (also known as next‐generation sequencing), with a targeted exome strategy, provides an extended blood group… read more here.
Keywords: blood group; group; gene systems; homologous gene ... See more keywords
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0840-9
Abstract: BackgroundAxenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been… read more here.
Keywords: exome sequencing; rieger syndrome; family; pitx2 gene ... See more keywords
Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0184440
Abstract: Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic… read more here.
Keywords: congenital cataract; gja3; exome sequencing; chinese family ... See more keywords
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2017010043
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children.… read more here.
Keywords: congenital anomalies; exome sequencing; urinary tract; kidney urinary ... See more keywords
Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Laboratory Medicine"
DOI: 10.3343/alm.2020.40.4.341
Abstract: Dear Editor, Hereditary thrombocythemia is a very rare autosomal dominant disorder associated with polyclonal hematopoiesis of the megakaryocytic lineage [1, 2]. Thrombocythemia 1 (THCYT1), caused by THPO variant, has been reported in Dutch [3, 4],… read more here.
Keywords: thpo variant; first case; thrombocythemia; count ... See more keywords
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.839349
Abstract: Context: Rare copy number variants (CNVs) have been associated with the development of severe obesity. However, the potential disease-causing contribution of individual genes within the region of CNVs is often not known. Objective: Screening of… read more here.
Keywords: early onset; genes involved; severe obesity; obesity ... See more keywords