about
Lipoid ProteinosisKindler SyndromeMolecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).BMI1 and TWIST1 downregulated mRNA expression in basal cell carcinoma.Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis.Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.Pachyonychia congenita: A case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutationExpanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosisPhenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility DisordersThe human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomavirusesMolecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous populationUsing immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from IranInfantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 geneGenotypic Heterogeneity and the Mode of Inheritance in Epidermolysis BullosaKRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex FamilyMultigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic ImplicationsHyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 GeneAssociation of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligoA CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia VerruciformisNext generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa
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H Vahidnezhad
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H Vahidnezhad
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H Vahidnezhad
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H Vahidnezhad
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H Vahidnezhad
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H Vahidnezhad
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H Vahidnezhad
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0000-0003-4298-9147