Literature DB >> 27756598

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

Hassan Vahidnezhad1, Razieh Karamzadeh2, Amir Hossein Saeidian3, Leila Youssefian4, Soheila Sotoudeh5, Sirous Zeinali6, Mohammad Vasei7, Fatemeh Golnabi8, Taghi Baghdadi9, Jouni Uitto10.   

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Year:  2016        PMID： 27756598     DOI： 10.1016/j.jid.2016.10.007

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  2 in total

Review 1.  Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Authors:  Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
Journal:  Int J Mol Sci       Date:  2017-03-15       Impact factor: 5.923

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

Authors:  Hassan Vahidnezhad; Leila Youssefian; Masoomeh Faghankhani; Nikoo Mozafari; Amir Hossein Saeidian; Fatemeh Niaziorimi; Fahimeh Abdollahimajd; Soheila Sotoudeh; Fateme Rajabi; Liaosadat Mirsafaei; Zahra Alizadeh Sani; Lu Liu; Alyson Guy; Sirous Zeinali; Ariana Kariminejad; Reginald T Ho; John A McGrath; Jouni Uitto
Journal:  Sci Rep       Date:  2020-12-10       Impact factor: 4.379
  2 in total

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