Literature DB >> 16005615

Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

Yejun Cai, Zhipeng Fan, Qingjie Liu, Jingyuan Li, Juan Du, Yan Shen, Songlin Wang.   

Abstract

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Year:  2005        PMID： 16005615     DOI： 10.1016/j.jdermsci.2005.05.003

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  2 in total

1.  Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.

Authors:  Fady Hannah-Shmouni; Giampaolo Trivellin; Pablo Beckers; Lefkothea P Karaviti; Maya Lodish; Christina Tatsi; Adekunle M Adesina; Fotini Adamidou; Gesthimani Mintziori; Jami L Josefson; Martha Quezado; Constantine A Stratakis
Journal:  J Clin Med       Date:  2022-04-13       Impact factor: 4.964

2.  Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Authors:  Filomena Napolitano; Milena Dell'Aquila; Chiara Terracciano; Giuseppina Franzese; Maria Teresa Gentile; Giulio Piluso; Claudia Santoro; Davide Colavito; Anna Patanè; Paolo De Blasiis; Simone Sampaolo; Simona Paladino; Mariarosa Anna Beatrice Melone
Journal:  Genes (Basel)       Date:  2022-06-23       Impact factor: 4.141
  2 in total

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