(Q33681064)

English

Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Cnossen MH

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Moons KG

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Garssen MP

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Pasmans NM

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

de Goede-Bolder A

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Niermeijer MF

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Grobbee DE

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

624-627

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Somatic mosaicism in a patient with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Diagnostic outcome in children with multiple café au lait spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

21 June 2018

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051384

30 October 2018

The diagnosis of neurofibromatosis-1 in the child under the age of 6 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/9719365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic delay in neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9719365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

1 reference

https://pubmed.ncbi.nlm.nih.gov/9719365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.8.624

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

release_tnhnqjvdabe43gpts3n3pyw23y

1 reference

https://api.fatcat.wiki/v0/release/tnhnqjvdabe43gpts3n3pyw23y

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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