(Q43146947)

14 November 2017

0 references

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1) (English)

1 reference

14 November 2017

Riccardi VM

1

1 reference

PMCID

1682332

14 November 2017

language of work or name

English

0 references

publication date

1 August 1993

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

53

1 reference

14 November 2017

2

1 reference

14 November 2017

301-304

1 reference

Methylation and imprinting: from host defense to gene regulation?

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Neurofibromatosis: clinical heterogeneity

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Familiarity, recessivity and germline mosaicism

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Triplet repeat mutations in human disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Abnormalities of chromosome 22 in human brain tumors determined by combined cytogenetic and molecular genetic approaches.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682332

Genetic mosaicism in normal tissues of Wilms' tumour patients

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8328448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1682332

1 reference

14 November 2017

1 reference

PMCID

1682332