Literature DB >> 26558229

Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness.

Jie Peng1, Jia Zhang2, Qi Zhang1, Pei-Quan Zhao1, Zhi-Rong Yao2.   

Abstract

Entities:  

Year:  2015        PMID： 26558229      PMCID： PMC4630997          DOI： 10.3980/j.issn.2222-3959.2015.05.39

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


× No keyword cloud information.
  7 in total

1.  Down to the wire for the NF gene.

Authors:  L Roberts
Journal:  Science       Date:  1990-07-20       Impact factor: 47.728

Review 2.  Clinical manifestations and management of neurofibromatosis type 1.

Authors:  James H Tonsgard
Journal:  Semin Pediatr Neurol       Date:  2006-03       Impact factor: 1.636

Review 3.  NF1 gene and neurofibromatosis 1.

Authors:  S A Rasmussen; J M Friedman
Journal:  Am J Epidemiol       Date:  2000-01-01       Impact factor: 4.897

4.  Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging.

Authors:  L J Balcer; G T Liu; G Heller; L Bilaniuk; N J Volpe; S L Galetta; P T Molloy; P C Phillips; A J Janss; S Vaughn; M G Maguire
Journal:  Am J Ophthalmol       Date:  2001-04       Impact factor: 5.258

5.  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Authors:  M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen
Journal:  Am J Hum Genet       Date:  2006-12-08       Impact factor: 11.025

6.  Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

Authors:  R Listernick; J Charrow; M Greenwald; M Mets
Journal:  J Pediatr       Date:  1994-07       Impact factor: 4.406

7.  A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Authors:  H-X Tong; M Li; Y Zhang; J Zhu; W-Q Lu
Journal:  Genet Mol Res       Date:  2012-08-29
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.