Amir Hossein Saeidian

Amir Hossein Saeidian

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Amir Hossein Saeidian

Amir Hossein Saeidian

Publications by authors named "Amir Hossein Saeidian"

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

J Hepatol 2019 Aug 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
August 2019

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

J Invest Dermatol 2019 May 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 Mar 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

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

J Invest Dermatol 2019 Jan 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

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.

Matrix Biol 2018 10 5;71-72:313-329. Epub 2018 Apr 5.

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

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X183006
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http://dx.doi.org/10.1016/j.matbio.2018.04.001DOI Listing
October 2018

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

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

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

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

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

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

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

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

Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus.

Immunol Res 2016 Feb;64(1):14-24

Department of Medicine, Institute of Medical Science, Banaras Hindu University, Varanasi, 221005, India.

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http://dx.doi.org/10.1007/s12026-015-8672-yDOI Listing
February 2016