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Das, Soma

One or more keywords matched the following properties of Das, Soma

Property	Value
keywords	Mutation detection

One or more keywords matched the following items that are connected to Das, Soma

Item Type	Name
Concept	Mutation
Concept	Germ-Line Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Concept	Frameshift Mutation
Academic Article	Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article	Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Academic Article	Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article	MYC is amplified in BRCA1-associated breast cancers.
Academic Article	Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Academic Article	Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article	Progressive dystonia in a 12-year-old boy.
Academic Article	Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Academic Article	Global gene expression as a function of germline genetic variation.
Academic Article	Denaturing high-performance liquid chromatography for mutation detection and genotyping.
Academic Article	Significance of PTEN alterations in endometrial carcinoma: a population-based study of mutations, promoter methylation and PTEN protein expression.
Academic Article	NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Academic Article	SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Academic Article	A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Academic Article	Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).
Academic Article	Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Academic Article	Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Academic Article	Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article	A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Academic Article	The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article	Denaturing high-performance liquid chromatography for mutation detection and genotyping.
Academic Article	CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Academic Article	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Academic Article	Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
Academic Article	Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
Academic Article	Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
Academic Article	A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Academic Article	Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Academic Article	MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Academic Article	Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Academic Article	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Academic Article	Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article	A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.
Academic Article	A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Academic Article	Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.
Academic Article	Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Academic Article	Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Academic Article	Germline variants drive myelodysplastic syndrome in young adults.
Academic Article	Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Academic Article	Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Grant	DNA METHYLATION IN ENDOMETRIAL CANCER
Academic Article	Sequential tumor molecular profiling identifies likely germline variants.

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Mutation