Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1-Reference-Cited by-同舟云学术

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Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1

Published:2019-06-14 Issue:4 Volume:46 Page:4349-4359
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Wang Wen^ORCID,Qin Weibing^ORCID,Ge Hongsong^ORCID,Kong Xiangsheng^ORCID,Xie Chao^ORCID,Tang Yunge^ORCID,Li Ming^ORCID

Funder

the research fund of Anhui Medical University

the research fund of the Fourth Affiliated Hospital of Anhui Medical University

the open project of Key Laboratory of Male Reproduction and Genetics, National Health and Family Planning Commission

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-019-04888-3.pdf

Reference47 articles.

1. Ferner RE (2007) Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 6(4):340–351

2. Neurofibromatosis. Conference statement (1988) National Institutes of Health Consensus Development Conference. Arch Neurol 45(5):575–578

3. DeBella K, Szudek J, Friedman JM (2000) Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105(3 Pt 1):608–614

4. Okumura A, Ozaki M, Niida Y (2015) Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1. Brain Dev 37(7):677–689

5. Yohay KH (2006) The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol 13(1):21–26

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1. The genetic spectrum ofNF1variants in 10 unrelated Chinese families with neurofibromatosis type 1;Neurosciences;2024-07

2. Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report;Experimental and Therapeutic Medicine;2024-02-07

3. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center;International Journal of Developmental Neuroscience;2023-06-06

4. Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund–Thomson Syndrome in Two Chinese Families;International Journal of Dermatology and Venereology;2021-05-18

5. Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family;European Journal of Dermatology;2021-04

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