(Q24625404)

1

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David A Stevenson

2

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David H Viskochil

3

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David C Dries

4

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Rong Mao

Journal of Child Neurology

6

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language of work or name

English

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publication date

October 2010

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published in

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volume

25

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issue

10

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page(s)

1203-9

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

Familial café au lait spots: a variant of neurofibromatosis type 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

Familial multiple cafe au lait spots

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3243064

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

30 May 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809359540

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809359540

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809359540

Familial Multiple Cafe au lait Spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809359540

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809359540

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179001