Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: karamzadeh r. Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18. Matrix Biol. 2019. PMID: 30463024 Free article.
Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J. Vahidnezhad H, et al. Among authors: karamzadeh r. J Invest Dermatol. 2017 Feb;137(2):525-528. doi: 10.1016/j.jid.2016.10.007. Epub 2016 Oct 15. J Invest Dermatol. 2017. PMID: 27756598 Free article. No abstract available.
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: karamzadeh r. J Invest Dermatol. 2017 Mar;137(3):678-685. doi: 10.1016/j.jid.2016.11.012. Epub 2016 Nov 21. J Invest Dermatol. 2017. PMID: 27884779 Free article.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J. Youssefian L, et al. Among authors: karamzadeh r. Hum Mutat. 2019 Feb;40(2):217-229. doi: 10.1002/humu.23686. Epub 2018 Dec 1. Hum Mutat. 2019. PMID: 30431684 Free PMC article.
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J. Youssefian L, et al. Among authors: karamzadeh r. Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942. Clin Infect Dis. 2019. PMID: 30778533 Free PMC article.
In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
Abiri M, Karamzadeh R, Mojbafan M, Alaei MR, Jodaki A, Safi M, Kianfar S, Bandehi Sarhaddi A, Noori-Daloii MR, Karimipoor M, Zeinali S. Abiri M, et al. Among authors: karamzadeh r. Metab Brain Dis. 2017 Feb;32(1):105-113. doi: 10.1007/s11011-016-9867-1. Epub 2016 Aug 10. Metab Brain Dis. 2017. PMID: 27507644
Identification of a missense variant in CLDN2 in obstructive azoospermia.
Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M. Askari M, et al. Among authors: karamzadeh r. J Hum Genet. 2019 Oct;64(10):1023-1032. doi: 10.1038/s10038-019-0642-0. Epub 2019 Jul 18. J Hum Genet. 2019. PMID: 31320686
Quantitative proteomic analysis of human testis reveals system-wide molecular and cellular pathways associated with non-obstructive azoospermia.
Alikhani M, Mirzaei M, Sabbaghian M, Parsamatin P, Karamzadeh R, Adib S, Sodeifi N, Gilani MAS, Zabet-Moghaddam M, Parker L, Wu Y, Gupta V, Haynes PA, Gourabi H, Baharvand H, Salekdeh GH. Alikhani M, et al. Among authors: karamzadeh r. J Proteomics. 2017 Jun 6;162:141-154. doi: 10.1016/j.jprot.2017.02.007. Epub 2017 Feb 15. J Proteomics. 2017. PMID: 28213128
24 results