Thomas Jefferson University

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Vahidnezhad, Hassan
One or more keywords matched the following items that are connected to Vahidnezhad, Hassan
Item TypeName
Concept Mutation
Concept Mutation, Missense
Concept INDEL Mutation
Academic Article Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
Academic Article The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families.
Academic Article Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene.
Academic Article KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Academic Article Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
Academic Article Gene Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Academic Article Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
Academic Article Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Academic Article Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Academic Article Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Academic Article Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Academic Article Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Academic Article A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Academic Article Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Academic Article Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.
Academic Article Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Academic Article Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Academic Article A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.
Academic Article Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Academic Article Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
Academic Article Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Academic Article Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.
Academic Article Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.
Academic Article First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.
Academic Article Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Academic Article Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.
Academic Article Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
Academic Article Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Academic Article Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).
Academic Article Linear basal cell nevus with a novel mosaic PTCH1 mutation.
Academic Article Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.
Academic Article Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Academic Article Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
Academic Article Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Academic Article Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the a6 Integrin Gene (ITGA6).
Academic Article Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Academic Article Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Academic Article Novel splice mutation in CDSN gene causing type b peeling skin syndrome.
Academic Article Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Academic Article Ichthyosis follicularis syndromes in patients with germline mutations in GJB2.
Academic Article ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Academic Article Mutation Update: The Spectra of PLEC Sequence Variants and Related Plectinopathies.
Academic Article Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
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