Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

The genetics of Parkinson disease

(2018) Hao Deng et al.   AGEING RESEARCH REVIEWS

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1

(2017) Pengzhi Hu et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1

(2017) Qian Lu et al.   Molecular Medicine Reports

A reference human genome dataset of the BGISEQ-500 sequencer

(2017) Jie Huang et al.   GigaScience

Mice with missense and nonsenseNF1mutations display divergent phenotypes compared with human neurofibromatosis type I

(2016) Kairong Li et al.   Disease Models & Mechanisms

NF1germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1

(2016) Joseph A. Toonen et al.   HUMAN MOLECULAR GENETICS

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

(2016) Hao Deng et al.   PLoS One

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning

(2015) C. Anastasaki et al.   HUMAN MOLECULAR GENETICS

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

(2015) Kitiwan Rojnueangnit et al.   HUMAN MUTATION

NF1 loss induces senescence during human melanocyte differentiation in an iPSC-based model

(2015) Lionel Larribere et al.   Pigment Cell & Melanoma Research

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

(2015) Jia Zhang et al.   Scientific Reports

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

(2015) Xiangjun Huang et al.   PLoS One

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

(2014) Valentina Pinna et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing

(2014) WEIHONG XU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

(2014) Bernadett Balla et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Neurofibromatosis type 1: a multidisciplinary approach to care

(2014) Angela C Hirbe et al.   LANCET NEUROLOGY

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

(2014) Wen Zheng et al.   MOLECULAR NEUROBIOLOGY

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

(2014) Alexander Pemov et al.   PLoS Genetics

Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1

(2013) Jung Min Ko et al.   PEDIATRIC NEUROLOGY

Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons

(2009) A. Zilberberg et al.   GUT