AMIR HOSSEIN SAEIDIAN to Phenotype
This is a "connection" page, showing publications AMIR HOSSEIN SAEIDIAN has written about Phenotype.
Connection Strength
0.244
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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. Am J Hum Genet. 2025 Jun 05; 112(6):1388-1414.
Score: 0.031
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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biol. 2021 05; 99:43-57.
Score: 0.023
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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol. 2021 06; 184(6):1170-1174.
Score: 0.022
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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis. Acta Derm Venereol. 2020 Mar 25; 100(7):adv00095.
Score: 0.021
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Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019 12; 139(12):2447-2457.e7.
Score: 0.020
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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019 03; 40(3):288-298.
Score: 0.020
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Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders. J Invest Dermatol. 2019 03; 139(3):522-527.
Score: 0.019
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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 10; 39(10):1349-1354.
Score: 0.019
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Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. Eur J Hum Genet. 2017 11; 25(11):1282-1285.
Score: 0.018
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2017 03; 137(3):678-685.
Score: 0.017
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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. J Invest Dermatol. 2017 03; 137(3):660-669.
Score: 0.017
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KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 09; 136(9):1897-1901.
Score: 0.016