Literature DB >> 27174544

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

Leila Youssefian1, Hassan Vahidnezhad, Yahya Aghighi, Vahid Ziaee, Sirous Zeinali, Maryam Abiri, Jouni Uitto.   

Abstract

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Year:  2017        PMID： 27174544     DOI： 10.2340/00015555-2459

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  6 in total

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

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Soheila Sotoudeh; Hamidreza Mahmoudi; Maryam Daneshpazhooh; Nessa Aghazadeh; Rebecca Adams; Alireza Ghanadan; Sirous Zeinali; Paolo Fortina; Jouni Uitto
Journal:  Eur J Hum Genet       Date:  2017-09-06       Impact factor: 4.246

2.  Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Authors:  Zahraa Haidar; Ramzi Temanni; Eliane Chouery; Puthen Jithesh; Wei Liu; Rashid Al-Ali; Ena Wang; Francesco M Marincola; Nadine Jalkh; Soha Haddad; Wassim Haidar; Lotfi Chouchane; André Mégarbané
Journal:  BMC Genet       Date:  2017-01-19       Impact factor: 2.797

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

Authors:  Leila Youssefian; Hassan Vahidnezhad; Andrew Touati; Vahid Ziaee; Amir Hossein Saeidian; Sara Pajouhanfar; Sirous Zeinali; Jouni Uitto
Journal:  BMC Med Genet       Date:  2018-05-25       Impact factor: 2.103

4.  Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Authors:  Claudia Cozma; Marina Hovakimyan; Marius-Ionuț Iurașcu; Nawal Makhseed; Laila A Selim; Amal M Alhashem; Tawfeg Ben-Omran; Iman G Mahmoud; Nihal M Al Menabawy; Mariam Al-Mureikhi; Magi Martin; Laura Demuth; Zafer Yüksel; Christian Beetz; Peter Bauer; Arndt Rolfs
Journal:  Orphanet J Rare Dis       Date:  2019-08-27       Impact factor: 4.123

5.  Identification of key genes and upstream regulators in ischemic stroke.

Authors:  Qian Zhang; Wenjie Chen; Siqia Chen; Shunxian Li; Duncan Wei; Wenzhen He
Journal:  Brain Behav       Date:  2019-06-06       Impact factor: 2.708

Review 6.  Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.

Authors:  Yunqian Zhu; Xiaonan Du; Li Sun; Huijun Wang; Dahui Wang; Bingbing Wu
Journal:  Mol Genet Genomic Med       Date:  2022-06-20       Impact factor: 2.473
  6 in total

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