(Q37308862)

English

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

scientific article published on 14 July 2015

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

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

1 reference

Europe PubMed Central

19 August 2017

genotype-phenotype correlation

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based on heuristic

inferred from title

Noonan syndrome

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inferred from title

pulmonic stenosis

1 reference

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inferred from title

1 reference

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object named as

Gary Bellus

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Vinodh Narayanan

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Vinodh Narayanan

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Vinod K Misra

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Ian M Frayling

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Elaine Zackai

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Conxi Lazaro

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Kathleen Claes

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Ludwine Messiaen

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Ludwine Messiaen

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Karen W Gripp

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Kitiwan Rojnueangnit

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Jing Xie

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Alicia Gomes

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Angela Sharp

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Tom Callens

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Yunjia Chen

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Ying Liu

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Meagan Cochran

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Mary-Alice Abbott

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Joan Atkin

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Dusica Babovic-Vuksanovic

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Christopher P Barnett

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Melissa Crenshaw

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Dennis W Bartholomew

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Lina Basel

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Shay Ben-Shachar

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Martin G Bialer

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David Bick

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Bruce Blumberg

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Fanny Cortes

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Karen L David

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Anne Destree

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Anna Duat-Rodriguez

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Dawn Earl

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Luis Escobar

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Marthanda Eswara

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Begona Ezquieta

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Moshe Frydman

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Kathy Gardner

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Concepcion Hernández-Chico

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Kurt Heyrman

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Jennifer Ibrahim

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Sandra Janssens

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Beth A Keena

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Isabel Llano-Rivas

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Kathy Leppig

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Marie McDonald

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Jennifer Mulbury

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Naama Orenstein

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Patricia Galvin-Parton

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Helio Pedro

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Eniko K Pivnick

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Cynthia M Powell

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Linda Randolph

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Salmo Raskin

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Jordi Rosell

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Karol Rubin

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Margretta Seashore

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Christian P Schaaf

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Angela Scheuerle

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Meredith Schultz

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Elizabeth Schorry

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Rhonda Schnur

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Elizabeth Siqveland

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Amanda Tkachuk

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James Tonsgard

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Meena Upadhyaya

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Ishwar C Verma

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Stephanie Wallace

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Charles Williams

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Jonathan Zonana

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Bruce Korf

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Yolanda Martin

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Eric Legius

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19 August 2017

publication date

14 July 2015

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19 August 2017

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36

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11

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1052-1063

1 reference

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19 August 2017

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

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6 September 2017

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

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

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6 September 2017

Review and update of SPRED1 mutations causing Legius syndrome

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6 September 2017

Legius syndrome in fourteen families.

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

1 reference

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6 September 2017

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

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6 September 2017

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

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6 September 2017

Natural history and outcome of optic pathway gliomas in children

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6 September 2017

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

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6 September 2017

High-resolution melting analysis (HRMA): more than just sequence variant screening.

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6 September 2017

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

1 reference

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6 September 2017

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

1 reference

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6 September 2017

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

1 reference

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6 September 2017

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

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6 September 2017

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

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6 September 2017

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

1 reference

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6 September 2017

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

1 reference

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6 September 2017

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

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6 September 2017

Neurofibromatosis type 1 and sporadic optic gliomas.

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6 September 2017

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

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6 September 2017

A clinical study of type 1 neurofibromatosis in north west England

1 reference

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6 September 2017

A prospective 10 year follow up study of patients with neurofibromatosis type 1

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6 September 2017

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

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6 September 2017

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

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6 September 2017

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

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6 September 2017

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

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14 September 2017

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

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14 September 2017

A highly sensitive genetic protocol to detect NF1 mutations

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26 June 2018

Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1

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26 June 2018

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

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26 June 2018

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

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26 June 2018

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

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2 September 2018

Height of South Asian children in the Netherlands aged 0-20 years: secular trends and comparisons with current Asian Indian, Dutch and WHO references.

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2 September 2018

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

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2 September 2018

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

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

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

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2 September 2018

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

1 reference

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2 September 2018

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

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

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2 September 2018

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

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2 September 2018

Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study.

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2 September 2018

Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

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2 September 2018

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

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21 January 2018

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

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21 January 2018

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

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21 January 2018

New growth charts for Taiwanese children and adolescents based on World Health Organization standards and health-related physical fitness

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12 December 2020

based on heuristic

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

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12 December 2020

based on heuristic

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Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging

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12 December 2020

based on heuristic

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Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

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https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

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Cardiac characterization of 16 patients with large NF1 gene deletions

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https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

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Intelligence in individuals with a neurofibromatosis type 1 microdeletion

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12 December 2020

based on heuristic

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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

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https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

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CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

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Identifiers

10.1002/HUMU.22832

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Europe PubMed Central

19 August 2017

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Europe PubMed Central

19 August 2017

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Europe PubMed Central

19 August 2017

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