Publications by authors named "Hassan Vahidnezhad"

51Publications

Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases.

Dermatol Ther 2020 Aug 14:e14194. Epub 2020 Aug 14.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/dth.14194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7435522PMC
August 2020

Epidermolysis bullosa and the COVID-19 pandemic: challenges and recommendations.

J Dermatolog Treat 2020 Jul 26:1-2. Epub 2020 Jul 26.

Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1080/09546634.2020.1788701DOI Listing
July 2020

Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

J Invest Dermatol 2020 Jun;140(6):1117-1126.e1

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2020.02.032DOI Listing
June 2020

The matriptase-prostasin proteolytic cascade in dermatologic diseases.

Exp Dermatol 2020 Apr 29. Epub 2020 Apr 29.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.14104DOI Listing
April 2020

Linear basal cell nevus with a novel mosaic PTCH1 mutation.

Exp Dermatol 2020 Jun 14;29(6):531-534. Epub 2020 May 14.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.14101DOI Listing
June 2020

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

J Clin Immunol 2020 May 13;40(4):637-642. Epub 2020 Mar 13.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1007/s10875-020-00767-wDOI Listing
May 2020

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

Int J Immunogenet 2020 Aug 16;47(4):342-350. Epub 2020 Feb 16.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/iji.12476DOI Listing
August 2020

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

Hum Mutat 2020 May 25;41(5):906-912. Epub 2020 Jan 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23980DOI Listing
May 2020

Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems.

Trends Mol Med 2019 12 6;25(12):1066-1079. Epub 2019 Nov 6.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2019.08.012DOI Listing
December 2019

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

Matrix Biol 2019 10 11;83:48-59. Epub 2019 Jul 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.07.002DOI Listing
October 2019

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

J Hepatol 2019 08 4;71(2):366-370. Epub 2019 Apr 4.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01688278193022
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http://dx.doi.org/10.1016/j.jhep.2019.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285838PMC
August 2019

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

J Invest Dermatol 2019 05 29;139(5):1195-1198. Epub 2018 Nov 29.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183289
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http://dx.doi.org/10.1016/j.jid.2018.11.011DOI Listing
May 2019

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.

J Invest Dermatol 2019 03 28;139(3):522-527. Epub 2018 Oct 28.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183271
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http://dx.doi.org/10.1016/j.jid.2018.10.017DOI Listing
March 2019

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

J Invest Dermatol 2018 09;138(9):1893-1900

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.06.170DOI Listing
September 2018

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

J Invest Dermatol 2019 01 20;139(1):241-244. Epub 2018 Jul 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183236
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http://dx.doi.org/10.1016/j.jid.2018.07.010DOI Listing
January 2019

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

BMC Med Genet 2018 05 25;19(1):87. Epub 2018 May 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1186/s12881-018-0581-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970508PMC
May 2018

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

Orphanet J Rare Dis 2017 12 6;12(1):176. Epub 2017 Dec 6.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1186/s13023-017-0728-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717823PMC
December 2017

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

Matrix Biol 2018 03 11;66:22-33. Epub 2017 Nov 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173024
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http://dx.doi.org/10.1016/j.matbio.2017.11.003DOI Listing
March 2018

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

J Invest Dermatol 2017 12 19;137(12):2649-2652. Epub 2017 Aug 19.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.07.830DOI Listing
December 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

JAMA Dermatol 2017 06;153(6):537-543

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut10Department of Genetics, Yale University School of Medicine, New Haven, Connecticut11Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1001/jamadermatol.2017.0202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817618PMC
June 2017

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

Am J Gastroenterol 2017 Feb;112(2):396-398

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ajg.2016.533DOI Listing
February 2017

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 27;137(3):660-669. Epub 2016 Oct 27.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.10.023DOI Listing
March 2017

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 21;137(3):678-685. Epub 2016 Nov 21.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.11.012DOI Listing
March 2017

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

J Invest Dermatol 2017 02 15;137(2):525-528. Epub 2016 Oct 15.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.10.007DOI Listing
February 2017

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

Matrix Biol 2017 01 3;57-58:76-85. Epub 2016 Aug 3.

Department of Dermatology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.matbio.2016.07.009DOI Listing
January 2017

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 7;136(9):1897-1901. Epub 2016 Jun 7.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.05.106DOI Listing
September 2016

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

Acta Derm Venereol 2017 01;97(1):108-109

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, Pennsylvania, USA.

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http://dx.doi.org/10.2340/00015555-2459DOI Listing
January 2017

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa.

JAMA Dermatol 2016 05;152(5):517-20

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2015.5237DOI Listing
May 2016

Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities.

J Invest Dermatol 2016 01;136(1):15-23

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/JID.2015.331DOI Listing
January 2016

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

Exp Dermatol 2016 Jan 13;25(1):17-9. Epub 2015 Oct 13.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.12826DOI Listing
January 2016

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

Int J Dermatol 2015 Oct 28;54(10):e416-23. Epub 2015 Jul 28.

Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1111/ijd.12804DOI Listing
October 2015

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

J Invest Dermatol 2015 May 23;135(5):1450-1453. Epub 2015 Jan 23.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.15DOI Listing
May 2015

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

Exp Dermatol 2015 Mar;24(3):220-2

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.12620DOI Listing
March 2015

BMI1 and TWIST1 downregulated mRNA expression in basal cell carcinoma.

Asian Pac J Cancer Prev 2014 ;15(8):3797-800

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran E-mail :

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http://dx.doi.org/10.7314/apjcp.2014.15.8.3797DOI Listing
January 2015

Modeling breast acini in tissue culture for detection of malignant phenotype reversion to non-malignant phenotype.

Iran Biomed J 2009 Oct;13(4):191-8

Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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October 2009