Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy

(2021) Francisco Javier García‐Martínez et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

(2021) Melyssa Aronson et al.   JOURNAL OF MEDICAL GENETICS

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

(2021) Carol Durno et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

(2021) C. Ejerskov et al.   Orphanet Journal of Rare Diseases

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

(2021) Eric Legius et al.   GENETICS IN MEDICINE

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

(2021) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Café au lait spots: When and how to pursue their genetic origins

(2020) Leah Lalor et al.   CLINICS IN DERMATOLOGY

Craniofacial bone alterations in patients with neurofibromatosis type 1

(2020) Julie Chauvel-Picard et al.   CHILDS NERVOUS SYSTEM

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

(2020) Juan A. Perez-Valencia et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

(2020) Peter D. Stenson et al.   HUMAN GENETICS

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

(2019) Teresa Giugliano et al.   Genes

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

(2019) Guanghui Zhu et al.   Orphanet Journal of Rare Diseases

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

(2019) Magdalena Koczkowska et al.   HUMAN MUTATION

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

(2019) Elisabeth Castellanos et al.   CLINICAL GENETICS

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents

(2019) Grant L. Hom et al.   JOURNAL OF CHILD NEUROLOGY

Café au Lait Macules and Associated Genetic Syndromes

(2019) Sharon Anderson   Journal of Pediatric Health Care

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

(2018) Magdalena Koczkowska et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

(2018) Magdalena Koczkowska et al.   GENETICS IN MEDICINE

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

(2018) Manon Suerink et al.   JOURNAL OF MEDICAL GENETICS

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

(2017) Irene Lara-Corrales et al.   JOURNAL OF CUTANEOUS MEDICINE AND SURGERY

The absence that makes the difference: choroidal abnormalities in Legius syndrome

(2017) Arianna Tucci et al.   JOURNAL OF HUMAN GENETICS

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1

(2017) Eva Trevisson et al.   JOURNAL OF NEURO-ONCOLOGY

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules

(2017) Shay Ben-Shachar et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

(2017) Robert A. Avery et al.   OPHTHALMOLOGY

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

(2016) C. Cassiman et al.   CLINICAL GENETICS

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort

(2016) Gaelle Blanchard et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

(2016) Van Royen Kjell et al.   EUROPEAN JOURNAL OF PEDIATRICS

Prevalence of Café-au-Lait Spots in children with solid tumors

(2016) Anna Claudia Evangelista dos Santos et al.   GENETICS AND MOLECULAR BIOLOGY

Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature

(2016) Anne Bernier et al.   PEDIATRIC NEUROLOGY

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation

(2016) Theresia Dunzendorfer-Matt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

(2016) D.G. Evans et al.   EBioMedicine

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View

(2016) Eric Pasmant et al.   EBioMedicine

Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population

(2015) Aldo Vagge et al.   ACTA OPHTHALMOLOGICA

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

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

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children

(2015) Ruen Yao et al.   JOURNAL OF DERMATOLOGY

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

(2015) Apolline Imbard et al.   JOURNAL OF HUMAN GENETICS

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

(2015) David W Sant et al.   JOURNAL OF MEDICAL GENETICS

Mosaic Neurofibromatosis Type 1: A Systematic Review

(2015) Maria Teresa García-Romero et al.   PEDIATRIC DERMATOLOGY

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

(2014) Claudia Santoro et al.   BMC Medical Genetics

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

(2014) Doua Bakry et al.   EUROPEAN JOURNAL OF CANCER

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

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

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

(2014) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

(2014) Katharina Wimmer et al.   JOURNAL OF MEDICAL GENETICS

Frequency of Choroidal Abnormalities in Pediatric Patients With Neurofibromatosis Type 1

(2014) Sertan Goktas et al.   JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Ophthalmological assessment of children with neurofibromatosis type 1

(2013) Catherine Cassiman et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2013) Audrey Sabbagh et al.   HUMAN MUTATION

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

(2013) Emma MM Burkitt Wright et al.   JOURNAL OF MEDICAL GENETICS

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

Valuing gene testing in children with possible neurofibromatosis 1

(2011) E Tsang et al.   CLINICAL GENETICS

Identification of five novel SPRED1 germline mutations in Legius syndrome

(2011) S Laycock-van Spyk et al.   CLINICAL GENETICS

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

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

Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Frequency and Associated Clinical Deficits

(2011) Rosa Nguyen et al.   JOURNAL OF PEDIATRICS

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

(2011) Carlos E. Prada et al.   JOURNAL OF PEDIATRICS

Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1

(2011) Francesco Viola et al.   OPHTHALMOLOGY

Clinical and genetic aspects of neurofibromatosis 1

(2010) Kimberly Jett et al.   GENETICS IN MEDICINE

The Diagnostic and Clinical Significance of Café-au-lait Macules

(2010) Kara N. Shah   PEDIATRIC CLINICS OF NORTH AMERICA

Predictive Value of Café au Lait Macules at Initial Consultation in the Diagnosis of Neurofibromatosis Type 1

(2009) Kara S. Nunley et al.   ARCHIVES OF DERMATOLOGY

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

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

(2009) Hilde Brems et al.   LANCET ONCOLOGY

Natural history and outcome of optic pathway gliomas in children

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

Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

(2008) Eva Pros et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

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

Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia

(2007) Hani Alotaibi et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS