Results 21 to 30 of about 12,735 (119)
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
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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
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Performance of Exome Sequencing for Pharmacogenomics [PDF]
Personalized Medicine, 2015 We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants.Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (
Londin, Eric R +5 more
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
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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.
Nuytemans, Karen, Vance, Jeffery M.
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A comparative analysis of exome capture [PDF]
Genome Biology, 2011 Abstract Background Human exome resequencing using commercial target capture kits has been and is being used for sequencing large numbers of individuals to search for variants associated with various human diseases. We rigorously evaluated the capabilities of two solution exome capture kits.
Parla, Jennifer S +5 more
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Mutation Profile of Normal and Tumor Cells in a Patient with Multiple Myeloma: A Case Report
Клиническая онкогематология, 2023 This paper is a case report of a patient with newly diagnosed multiple myeloma (MM) who underwent exome sequencing of peripheral blood lymphocytes and CD138+ tumor plasma cells prior to therapy.
A. S. Zhuk +9 more
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Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
Annals of Indian Academy of Neurology, 2014 Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient.
Ashok Verma
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Assessing the Power of Exome Chips
PLOS ONE, 2015 Genotyping chips for rare and low-frequent variants have recently gained popularity with the introduction of exome chips, but the utility of these chips remains unclear. These chips were designed using exome sequencing data from mainly American-European individuals, enriched for a narrow set of common diseases.
Page, Christian +5 more
openaire +6 more sources
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis
Frontiers in Immunology, 2022 The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes.
Oded Shamriz +19 more
doaj +1 more source