Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
Rezende RC et al.
The Journal of Pediatrics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
Khan N et al.
International Journal of Dermatology, 2023
Ichthyosis vulgaris: An updated review.
Jaffar H et al.
Skin Health and Disease, 2023
In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.
Paul AA et al.
Frontiers in Molecular Biosciences, 2023
37200867 (PubMed )
Supplement: Table1.DOCX
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
Fozia F et al.
Genes, 2021
X-linked and autosomal dominant forms of the ichthyosis in coinheritance.
Alaverdian DA et al.
Drug Metabolism and Personalized Therapy, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
Gellert P et al.
Nature Communications, 2016
27827358 (PubMed )
Supplement: ncomms13294-s4.xlsx › Phase_II
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
Srinivas SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.
Somasundaram A et al.
Indian Dermatology Online Journal, 0
Select a paper to view details