(Q35881534)

10 August 2017

Somatic mosaicism in a patient with neurofibromatosis type 1. (English)

1 reference

10 August 2017

1 reference

S D Colman

1

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10 August 2017

S A Rasmussen

2

1 reference

10 August 2017

V T Ho

3

1 reference

10 August 2017

C R Abernathy

4

1 reference

10 August 2017

M R Wallace

5

1 reference

10 August 2017

language of work or name

English

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publication date

1 March 1996

1 reference

American Journal of Human Genetics

10 August 2017

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10 August 2017

58

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10 August 2017

3

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10 August 2017

484-490

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Mutations in von Recklinghausen neurofibromatosis: an hypothesis

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Contiguous gene syndromes: a component of recognizable syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33]

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Mental development in Down syndrome mosaicism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Sequencing and analysis of genomic fragments from the NF1 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914580

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

14 November 2018

1 reference

12 December 2020

An EcoRI RFLP in the 5' region of the human NF1 gene

1 reference

12 December 2020

A PCR-based test for a polymorphism within the human NF1 gene

1 reference

12 December 2020

The importance of genetic mosaicism in human disease

1 reference

12 December 2020

Somatic mosaicism for a DMD gene deletion

1 reference

12 December 2020

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

PubMed publication ID

8644707

1 reference