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

Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

(2015) Claudia Santoro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

(2013) Sara Ekvall et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

(2013) R. van Minkelen et al.   CLINICAL GENETICS

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

(2013) Audrey Sabbagh et al.   HUMAN MUTATION

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

(2013) Ana-Maria Vranceanu et al.   JOURNAL OF NEURO-ONCOLOGY

Cardiac characterization of 16 patients with largeNF1gene deletions

(2012) R Nguyen et al.   CLINICAL GENETICS

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

(2012) Shay Ben-Shachar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

(2011) María Carmen Valero et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Legius syndrome in fourteen families

(2010) Ellen Denayer et al.   HUMAN MUTATION

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

(2010) Eric Pasmant et al.   HUMAN MUTATION

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

(2010) V.-F. Mautner et al.   JOURNAL OF MEDICAL GENETICS

Neurofibromatosis type 1 and Arnold-Chiari-malformation. An unknown association?

(2010) N Plümpe et al.   NEUROPEDIATRICS

New Growth Charts for Taiwanese Children and Adolescents Based on World Health Organization Standards and Health-related Physical Fitness

(2010) Walter Chen et al.   Pediatrics and Neonatology

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

(2009) Rolf H.A.M. Vossen et al.   HUMAN MUTATION

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Natural history and outcome of optic pathway gliomas in children

(2009) Gary Nicolin et al.   PEDIATRIC BLOOD & CANCER

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

(2008) Anna-Maja Nyström et al.   ACTA PAEDIATRICA

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

(2008) Nicole Revencu et al.   HUMAN MUTATION

Genetic influences on the difference in variability of height, weight and body mass index between Caucasian and East Asian adolescent twins

(2008) Y-M Hur et al.   INTERNATIONAL JOURNAL OF OBESITY

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY