(Q34137459)

31 July 2017

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome (English)

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31 July 2017

17

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31 July 2017

18

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31 July 2017

Claudio Carta

4

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Massimo Carella

Massimo Carella

13

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Antonio Pizzuti

Antonio Pizzuti

15

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Silvia Majore

Silvia Majore

11

1 reference

ORCID Public Data File 2021

Alessandro De Luca

Alessandro De Luca

1

1 reference

ORCID Public Data File 2021

Irene Bottillo

2

Irene Bottillo

1 reference

31 July 2017

7

Annalisa Schirinzi

1 reference

31 July 2017

8

Emanuela Conti

1 reference

31 July 2017

Anna Sarkozy

3

1 reference

31 July 2017

Cinzia Neri

5

1 reference

31 July 2017

Emanuele Bellacchio

6

1 reference

31 July 2017

Giuseppe Zampino

9

1 reference

31 July 2017

Agatino Battaglia

10

1 reference

31 July 2017

Maria M Rinaldi

12

1 reference

31 July 2017

Bruno Marino

14

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31 July 2017

Maria Cristina Digilio

16

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31 July 2017

language of work or name

English

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publication date

26 October 2005

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

77

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31 July 2017

issue

6

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31 July 2017

page(s)

1092-1101

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Noonan syndrome and related disorders: genetics and pathogenesis

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Recent advances in neurofibromatosis type 1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

SHP-2 and myeloid malignancies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Neurofibromatosis 1: closing the GAP between mice and men.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Unraveling hot spots in binding interfaces: progress and challenges

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Structural analysis of the GAP-related domain from neurofibromin and its implications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Vertical transmission of the neurofibromatosis/Noonan syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Noonan's syndrome and neurofibromatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

The neurofibromatosis type 1 gene encodes a protein related to GAP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Somatic mutations in the neurofibromatosis 1 gene in human tumors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

A clinical study of Noonan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Somatic PTPN11 mutations in childhood acute myeloid leukaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

PTPN11 mutations in LEOPARD syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285166

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

28 October 2018

1 reference

12 December 2020

Neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

12 December 2020

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

1 reference

12 December 2020

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

A distinctive facial appearance in neurofibromatosis von Recklinghausen

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis

1 reference

12 December 2020

1 reference

12 December 2020

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis with fully expressed Noonan syndrome

1 reference

12 December 2020

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

12 December 2020

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

12 December 2020

NF1 gene analysis based on DHPLC

1 reference

12 December 2020

Identifiers

DOI

10.1086/498454

1 reference

31 July 2017

1 reference

31 July 2017

1 reference