Gene: NF1

Alternate names for this Gene: NFNS|VRNF|WSS

Gene Summary: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: neurofibromin 1

Type of Gene: protein-coding

rs762735676 in NF1 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs143119709 in NF1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1064794276 in NF1 gene and Dysmorphic features PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 27322474 2016 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.

rs2854322 in NF1 gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs11080150 in NF1 gene and Low density lipoprotein cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs1279529138 in NF1 gene and Mid aortic syndrome PMID 29483232 2018 Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

rs137854562 in NF1 gene and Multiple congenital anomalies PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 27322474 2016 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.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

rs137854562 in NF1 gene and Muscle hypotonia PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 27322474 2016 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.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

rs137854561 in NF1 gene and NEUROFIBROMATOSIS, FAMILIAL SPINAL PMID 11704931 2001 Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

rs1057517967 in NF1 gene and Neoplastic Syndromes, Hereditary PMID 25074460 2015 Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10543400 1999 Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

PMID 16944272 2007 Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

PMID 23404336 2013 GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.

PMID 7981679 1994 Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

PMID 18546366 2008 Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

PMID 10607834 2000 Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

PMID 27305697 2016 Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.

PMID 15146469 2004 Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

PMID 22222937 2012 An histologically atypical NF-type 1 patient with a new pathogenic mutation.

PMID 23583981 2013 Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.

PMID 9180088 1997 Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.

PMID 23913538 2013 NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PMID 21354044 2011 A highly sensitive genetic protocol to detect NF1 mutations.

PMID 11115850 2000 Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

PMID 19061981 2009 Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression.

PMID 11431704 2001 Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

PMID 23322702 2013 A new NF1 variant in a patient with atypical manifestations.

PMID 18484666 2008 Germline and somatic NF1 gene mutations in plexiform neurofibromas.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 18041031 2007 Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

PMID 16138229 2005 High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.

PMID 21031597 2011 Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

PMID 22155606 2011 Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

PMID 12872266 2003 Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

PMID 25612910 2015 Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

PMID 24932921 2014 Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

PMID 24789688 2014 Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 14517963 2003 Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.

PMID 26740943 2015 126 novel mutations in Italian patients with neurofibromatosis type 1.

PMID 16825284 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

PMID 11967553 2002 Listening to silence and understanding nonsense: exonic mutations that affect splicing.

PMID 25480383 2015 Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 17311297 2007 Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

PMID 24710307 2014 A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 9687500 1998 Structural analysis of the GAP-related domain from neurofibromin and its implications.

PMID 9219684 1997 The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants.

PMID 19142971 2009 Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.

PMID 26969325 2016 No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

PMID 21838856 2011 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

PMID 26056819 2015 Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

PMID 12807981 2003 Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

PMID 29415745 2018 Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

PMID 27716896 2017 Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

PMID 2114220 1990 A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

PMID 8845843 1996 Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31.

PMID 23758643 2013 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

PMID 23668869 2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

PMID 11258625 2001 Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

PMID 12566521 2003 Independent NF1 mutations in two large families with spinal neurofibromatosis.

PMID 15060124 2004 Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

PMID 7607663 1995 Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

PMID 17353900 2007 Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.

PMID 17514731 2008 A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

PMID 12552569 2003 NF1 gene analysis based on DHPLC.

PMID 17426081 2007 Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

PMID 12112660 2002 Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

PMID 10862084 2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

PMID 9003501 1997 Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

PMID 8628317 1996 Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.

PMID 22807134 2012 Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

PMID 12787671 2003 Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.

PMID 25324867 2014 Neurofibromatosis type 1: a single center's experience in Korea.

PMID 23010473 2012 Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

PMID 15863657 2005 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

PMID 22664660 2012 Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

PMID 27838393 2017 Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

PMID 17103458 2006 A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

PMID 7655472 1995 Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

PMID 9668168 1998 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

PMID 26478990 2015 A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

PMID 27322474 2016 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.

PMID 24413922 2014 The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

PMID 12387455 2002 Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.

PMID 11476066 2001 Limited contribution of interchromosomal gene conversion to NF1 gene mutation.

PMID 16479075 2006 The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 10980545 2000 NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

PMID 26076063 2015 NF1 Mutations Are Common in Desmoplastic Melanoma.

PMID 9150739 1997 Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

PMID 12522551 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

PMID 9101300 1997 Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 8664912 1996 Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

PMID 19738042 2009 Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

PMID 21532985 2011 Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

PMID 17160901 2007 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.

PMID 7904209 1993 Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.

PMID 20602485 2010 NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 10076878 1999 Two independent mutations in a family with neurofibromatosis type 1 (NF1).

PMID 16199547 2005 Splicing in action: assessing disease causing sequence changes.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 25541118 2015 [Phenotypic and genetic features in neurofibromatosis type 1 in children].

PMID 27482814 2016 Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

PMID 27171602 2016 Exploring the genetic basis for clinical variation in neurofibromatosis type 1.

PMID 26973730 2016 De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 26908603 2016 NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

PMID 25966637 2015 Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 26706011 2015 Advances in Molecular Diagnosis of Neurofibromatosis Type 1.

PMID 19292874 2009 Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

PMID 14569132 2003 Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.

PMID 18503770 2008 The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

PMID 22925204 2013 Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

PMID 16773574 2006 Double inactivation of NF1 in tibial pseudarthrosis.

PMID 8544190 1995 Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 16961930 2006 Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

PMID 9783703 1998 Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

PMID 26514327 2016 Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

PMID 25788518 2015 Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

PMID 12095621 2002 Quantification of NF1 transcripts reveals novel highly expressed splice variants.

PMID 15523642 2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

PMID 9463322 1998 Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

PMID 24506781 2014 Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

PMID 19241459 2009 Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

PMID 8829638 1996 Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.

PMID 22489043 2012 Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.

PMID 8069310 1994 Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

PMID 16786508 2006 The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

PMID 8081387 1994 Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

PMID 25293717 2015 Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

PMID 15627836 2005 Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae.

PMID 27862945 2017 Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

PMID 16005615 2005 Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

PMID 17726231 2007 Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

PMID 16306205 2005 Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.

PMID 22108604 2012 Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

PMID 24694336 2014 Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

PMID 25403449 2015 Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.

PMID 16414076 2006 Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.

PMID 21280148 2011 Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

PMID 11857752 2002 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

rs1057517967 in NF1 gene and Neurofibromatosis 1 PMID 25074460 2015 Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

PMID 23913538 2013 NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

PMID 27074763 2016 Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.

PMID 10543400 1999 Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

PMID 8837715 1996 Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

PMID 7981679 1994 Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

PMID 23404336 2013 GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.

PMID 16944272 2007 Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

PMID 18546366 2008 Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

PMID 26478990 2015 A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

PMID 15146469 2004 Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

PMID 29290338 2018 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

PMID 24932921 2014 Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 22962301 2012 Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

PMID 24357598 2014 Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

PMID 8829638 1996 Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.

PMID 22222937 2012 An histologically atypical NF-type 1 patient with a new pathogenic mutation.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 17636453 2007 Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 10451518 1999 Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 17712740 2007 Familial spinal neurofibromatosis.

PMID 27482814 2016 We demonstrate that the human nonsense NF1(Arg681*) and missense NF1(Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each recapitulates unique aspects of the NF1 phenotype, depending upon the genetic context when assessed in the homozygous state or when paired with a conditional knockout allele.

PMID 25211147 2015 The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

PMID 12552569 2003 NF1 gene analysis based on DHPLC.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 16786508 2006 The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

PMID 19845691 2009 Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

PMID 9783703 1998 Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

PMID 23583981 2013 Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.

PMID 22190595 2012 Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

PMID 25541118 2015 [Phenotypic and genetic features in neurofibromatosis type 1 in children].

PMID 14635100 2003 Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

PMID 8834249 1996 Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

PMID 27322474 2016 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.

PMID 27838393 2017 Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

PMID 22155606 2011 Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

PMID 24789688 2014 Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.

PMID 22925204 2013 Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

PMID 21354044 2011 A highly sensitive genetic protocol to detect NF1 mutations.

PMID 27999334 2016 Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

PMID 11409870 2001 Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

PMID 9101300 1997 Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 17311297 2007 Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

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PMID 18041031 2007 Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

PMID 28961165 2017 Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

PMID 10534774 1999 Germline mutations in NF1 patients with malignancies.

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PMID 28706617 2017 Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.

PMID 24711935 2014 Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency.

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 8081387 1994 Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

PMID 22807134 2012 Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

PMID 9668168 1998 Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

PMID 9003501 1997 Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

PMID 9298829 1997 Six novel mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 21838856 2011 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

PMID 24413922 2014 The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

PMID 2114220 1990 A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

PMID 23758643 2013 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

PMID 9150739 1997 Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

PMID 8264648 1994 Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes.

PMID 15060124 2004 Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

PMID 15520408 2004 Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

PMID 1568247 1992 Somatic mutations in the neurofibromatosis 1 gene in human tumors.

PMID 15523642 2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

PMID 12746402 2003 NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

PMID 1302608 1992 Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

PMID 14722917 2004 Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

PMID 10607834 2000 Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

PMID 11857752 2002 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

PMID 8385067 1993 Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

PMID 8069310 1994 Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

PMID 10076878 1999 Two independent mutations in a family with neurofibromatosis type 1 (NF1).

PMID 7649559 1995 Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

PMID 7903661 1994 Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

PMID 8807336 1996 Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

PMID 19221814 2009 The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 23668869 2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

PMID 16479075 2006 The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 24951259 2015 Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

PMID 9302992 1997 Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras.

PMID 16513807 2006 Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.

PMID 9545275 1998 The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin.

PMID 26635368 2016 Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

PMID 9109662 1997 Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy.

PMID 11258625 2001 Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

PMID 10862084 2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

PMID 12112660 2002 Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

PMID 25624686 2015 Rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1.

PMID 12483293 2003 Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

PMID 10980545 2000 NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

PMID 27234610 2016 A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

PMID 7655472 1995 Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.

PMID 29673180 2018 Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

PMID 12807981 2003 Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

PMID 12808981 2003 [Cardiac life support for acute coronary syndrome].

PMID 7607663 1995 Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

PMID 26969325 2016 No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

PMID 22617876 2012 Complexities of 5'splice site definition: implications in clinical analyses.

PMID 12624144 2003 Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.

PMID 17514731 2008 A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

PMID 9463322 1998 Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

PMID 10874316 2000 Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

PMID 26740943 2015 126 novel mutations in Italian patients with neurofibromatosis type 1.

PMID 28529006 2017 Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

PMID 24232412 2014 Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

PMID 26056819 2015 Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

PMID 24922668 2014 NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.

PMID 7904209 1993 Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.

PMID 21532985 2011 Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

PMID 17160901 2007 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.

PMID 20602485 2010 NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

PMID 17103458 2006 A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

PMID 16138229 2005 High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.

PMID 26840085 2016 Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

PMID 28068329 2017 The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.

PMID 26230854 2015 Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

PMID 14513407 2003 Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.

PMID 9195229 1997 NF1 mutation analysis using a combined heteroduplex/SSCP approach.

PMID 22207399 2012 Screening for mutation site on the type I neurofibromatosis gene in a family.

PMID 12687660 2003 Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma.

PMID 11735023 2001 Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

PMID 12787671 2003 Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 10336779 1998 Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

PMID 11459867 2001 Blocking oncogenic Ras signaling for cancer therapy.

PMID 15863657 2005 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

PMID 25324867 2014 Neurofibromatosis type 1: a single center's experience in Korea.

PMID 8628317 1996 Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles.

PMID 25480383 2015 Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.

PMID 17726231 2007 Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

PMID 16005615 2005 Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

PMID 1071297 1977 [Specific and nonspecific indices of humoral immunity in inflammatory processes of the maxillofacial area].

PMID 27617404 2016 Immortalization of human normal and NF1 neurofibroma Schwann cells.

PMID 26331193 2016 Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.

PMID 12522551 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

PMID 25293717 2015 Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

PMID 26962827 2016 Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.

PMID 7633431 1995 Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

PMID 18484666 2008 Germline and somatic NF1 gene mutations in plexiform neurofibromas.

PMID 17914445 2008 Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.

PMID 25788518 2015 Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

PMID 8664912 1996 Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

PMID 10677298 2000 Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

PMID 12707950 2003 Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

PMID 25877329 2015 A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.

PMID 19863548 2010 Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.

PMID 21278392 2011 A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

PMID 9180088 1997 Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.

PMID 14569132 2003 Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.

PMID 25966637 2015 Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

PMID 19120036 2009 A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 29449315 2018 Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

PMID 16870183 2006 NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

PMID 9385374 1997 Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 16773574 2006 Double inactivation of NF1 in tibial pseudarthrosis.

PMID 16544997 2006 Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 8544190 1995 Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

PMID 24294391 2013 Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 17960768 2008 Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

PMID 21512413 2011 Pulmonary hypertension in patients with neurofibromatosis type I.

PMID 11726231 2001 Identification of a CD8alpha(+) dendritic cell subpopulation in rat spleen and evaluation of its OX-62 expression.

PMID 8957181 1996 Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

PMID 23460398 2013 Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.

PMID 10678181 2000 Nf1 and Gmcsf interact in myeloid leukemogenesis.

PMID 22965773 2012 A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

PMID 19292874 2009 Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

PMID 10090487 1999 Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.

PMID 16941471 2006 Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

PMID 8437860 1993 Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis.

PMID 19665063 2010 Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.

PMID 21362601 2011 [Molecular genetic diagnosis of neurofibromatosis type I].

PMID 19142971 2009 Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.

PMID 9475595 1998 Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

PMID 25403449 2015 Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.

rs137854550 in NF1 gene and Neurofibromatosis-Noonan syndrome PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 19845691 2009 Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

PMID 12707950 2003 Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs2953013 in NF1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs2953013 in NF1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs11080150 in NF1 gene and Serum total cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs148176174 in NF1 gene and Squamous cell carcinoma of lung PMID 29924316 2018 Genome-wide association study of familial lung cancer.

rs2854322 in NF1 gene and Triglycerides measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.