Associated Papers
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Ozturk M et al.
Molecular Biology Reports, 2024
Long term outcomes in children with trichohepatoenteric syndrome.
Lee KY et al.
American Journal of Medical Genetics. Part A, 2024
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre A et al.
American Journal of Medical Genetics. Part A, 2018
Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.
Vinu N et al.
Indian Journal of Pediatrics, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
29093021 (PubMed )
Supplement: supp_064626.117_Supplemental_Tables_S1-S2.docx
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C et al.
Bmc Medical Genetics, 2017
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
Lee WI et al.
Medicine, 2016
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
Kammermeier J et al.
Journal of Medical Genetics, 2014
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Eckard SC et al.
Nature Immunology, 2014
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A et al.
Orphanet Journal of Rare Diseases, 2013
Trichohepatoenteric syndrome: founder mutation in asian indians.
Kotecha UH et al.
Molecular Syndromology, 2012
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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