(Q35626464)

9 August 2017

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype (English)

1 reference

9 August 2017

D A Stevenson

1

1 reference

9 August 2017

D H Viskochil

series ordinal

2

1 reference

9 August 2017

A F Rope

series ordinal

3

1 reference

9 August 2017

J C Carey

series ordinal

4

1 reference

9 August 2017

language of work or name

1 reference

1 March 2006

1 reference

9 August 2017

1 reference

9 August 2017

69

1 reference

9 August 2017

3

1 reference

9 August 2017

246-253

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Gab1, SHP-2 and other novel regulators of Ras: targets for anticancer drug discovery?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Genetics of neurofibromatosis 1 and the NF1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Gab1 and SHP-2 promote Ras/MAPK regulation of epidermal growth and differentiation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Molecular mechanism for the Shp-2 tyrosine phosphatase function in promoting growth factor stimulation of Erk activity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Regulation of neuregulin-mediated acetylcholine receptor synthesis by protein tyrosine phosphatase SHP2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Neurofibromatosis-Noonan syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

The Ullrich-Noonan syndrome (Turner phenotype).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

The genetic aspects of neurofibromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2.

12 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2006.00576.X

Hypertelorism With Turner Phenotype

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2006.00576.X

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

PTPN11 mutations in LEOPARD syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

Regulation of the mitogen-activated protein kinase signaling pathway by SHP2.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243644

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

15 November 2018

1 reference

12 December 2020

Neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis with fully expressed Noonan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

1 reference

12 December 2020

10.1111/J.1399-0004.2006.00576.X

Identifiers

DOI

1 reference

9 August 2017

1 reference

9 August 2017

1 reference