List of works - Hassan Vahidnezhad

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

scientific article published on 01 December 2018

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

scientific article published on 6 December 2017

Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems

scientific article published on 06 November 2019

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

scientific article published on 10 December 2020

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

scientific article published on 24 July 2019

Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo

scientific article published on 16 February 2020

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

scientific article published on 6 September 2017

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

scientific article published on 16 January 2019

BMI1 and TWIST1 downregulated mRNA expression in basal cell carcinoma

scientific article published on January 2014

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

scientific article published on 11 July 2019

CD147 inhibitors as a treatment for melanoma: promising agents against SARS-CoV-2 infection

scientific article published on 24 October 2020

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

scientific article published on 28 September 2016

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

scientific article published on 27 October 2016

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

scientific article published on 20 July 2018

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

scientific article published on 10 October 2017

Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis.

scientific article published in December 2016

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

scientific article published on 01 August 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

scientific article

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

scientific article published on 23 January 2015

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

scientific article published on 9 February 2018

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

scientific article published on 21 November 2016

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

scientific article published in February 2017

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

scientific article published on 24 January 2018

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

scientific article published on 12 January 2020

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

scientific article published on 26 August 2019

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa

scientific article published on 01 May 2016

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

scientific article published on 13 March 2020

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

scientific article published on 01 January 2017

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

scientific article published on 27 September 2019

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

scientific article published on 07 March 2015

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

scientific article published on 01 May 2019

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

scientific article published on 04 April 2019

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

scientific article published on 07 June 2016

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

scientific article published on 02 November 2020

Kindler Syndrome

scientific article

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

scientific article published on 13 August 2015

Lipoid Proteinosis

scientific article

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

scientific article published in March 2015

Losartan for treatment of epidermolysis bullosa - a new perspective

scientific article published on 05 December 2020

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

scientific article published on 20 January 2020

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

scientific article published on 15 October 2016

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

article

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

scientific article

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

scientific article published on 19 August 2017

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

scientific article published on 18 November 2018

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation

scientific article published on 08 October 2020

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

scientific article published on 03 August 2018

Pachyonychia congenita: A case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

scientific article published on 02 December 2018

Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

scientific article published on 28 October 2018

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

scientific article

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

scientific article published on 12 April 2017

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

scientific article published in 2022

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

scientific article published on 11 November 2017

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

scientific article published on 01 September 2018

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

scientific article published on 23 February 2018

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

scientific article published on 19 January 2015

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

scientific article

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

scientific article published on 28 July 2015

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.

scientific article published on 8 March 2016

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

scientific article published on 11 June 2019

List of works by Hassan Vahidnezhad

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

BMI1 and TWIST1 downregulated mRNA expression in basal cell carcinoma

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

CD147 inhibitors as a treatment for melanoma: promising agents against SARS-CoV-2 infection

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.

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis.

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation

Kindler Syndrome

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Lipoid Proteinosis

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

Losartan for treatment of epidermolysis bullosa - a new perspective

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

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

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Pachyonychia congenita: A case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

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.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants