p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder [PDF]
Journal of Movement Disorders, 2018 Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a ...
Silke Appel-Cresswell +4 more
doaj +1 more source
Genome Biology, 2011 Exome sequencing is rapidly expanding both as a technique and in its biological applications.
openaire +2 more sources
Whole-Exome Enrichment with the Illumina TruSeq Exome Enrichment Platform [PDF]
Cold Spring Harbor Protocols, 2015 Multiple platforms are available for whole-exome enrichment and sequencing (WES). This protocol is based on the Illumina TruSeq Exome Enrichment platform, which captures ∼62 Mb of the human exonic regions using 95-base DNA probes. In addition to covering the RefSeq and Ensembl coding sequences, the enriched sequences also include ∼28 Mb of RefSeq ...
Rui, Chen, Hogune, Im, Michael, Snyder
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Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
Medicina, 2020 The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and ...
Francesco Calì +8 more
doaj +1 more source
Rinsho Shinkeigaku, 2010 Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Karen, Nuytemans, Jeffery M, Vance
openaire +3 more sources
Genetics of pediatric hearing loss: A functional perspective
Laryngoscope Investigative Otolaryngology, 2020 Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed.
Harmon Khela, Margaret A. Kenna
doaj +1 more source
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]
, 2013 We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan +12 more
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]
, 2017 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed +97 more
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A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]
, 2012 Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W +19 more
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Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
, 2018 Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia +12 more
core +1 more source