(Q49151480)

18 February 2018

title

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 (English)

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-1047-9

30 March 2024

1 reference

1 reference

https://api.crossref.org/works/10.1007/S00439-003-1047-9

30 March 2024

6

Ludwine Messiaen

1 reference

18 February 2018

Remco van Doorn

2

object named as

Remco van Doorn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605872

30 March 2024

author name string

Ina Vandenbroucke

1

1 reference

18 February 2018

Tom Callens

3

1 reference

18 February 2018

Jan M. Cobben

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605872

30 March 2024

Theo M. Starink

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605872

30 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14605872

30 March 2024

publication date

6 November 2003

1 reference

18 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00439-003-1047-9.pdf

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-1047-9

http://link.springer.com/article/10.1007/s00439-003-1047-9/fulltext.html

30 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00439-003-1047-9

http://link.springer.com/content/pdf/10.1007/s00439-003-1047-9

30 March 2024

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-1047-9

30 March 2024

1 reference

18 February 2018

volume

114

1 reference

18 February 2018

page(s)

284-290

1 reference

18 February 2018

issue

3

1 reference

18 February 2018

https://scigraph.springernature.com/pub.10.1007/s00439-003-1047-9

exact match

0 references

cites work

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.

1 reference

12 December 2020

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

12 December 2020

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mosaicism in human skin. Understanding the patterns and mechanisms

1 reference

12 December 2020

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

1 reference

12 December 2020

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

12 December 2020

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

1 reference

12 December 2020

Segmental neurofibromatosis: is it uncommon or underdiagnosed?

1 reference

12 December 2020

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

1 reference

12 December 2020

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

1 reference

12 December 2020

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

1 reference

12 December 2020

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

1 reference

12 December 2020

More on the frequency of segmental neurofibromatosis

1 reference

12 December 2020

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

1 reference

12 December 2020

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

12 December 2020

Segmental neurofibromatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

1 reference

12 December 2020

Revertant mosaicism in human genetic disorders

1 reference

12 December 2020

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

1 reference

12 December 2020

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

12 December 2020

Somatic mosaicism in a patient with neurofibromatosis type 1.

1 reference

12 December 2020

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

12 December 2020

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Identifiers

1 reference

18 February 2018

Dimensions Publication ID

0 references

1 reference

18 February 2018