(Q34146220)

31 July 2017

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents (English)

1 reference

von Hippel-Lindau disease

31 July 2017

1 reference

Sgambati MT

1

1 reference

31 July 2017

Stolle C

2

1 reference

31 July 2017

Choyke PL

3

1 reference

31 July 2017

Walther MM

4

1 reference

31 July 2017

Zbar B

5

1 reference

31 July 2017

Linehan WM

6

1 reference

31 July 2017

Glenn GM

7

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 January 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

66

1 reference

31 July 2017

1

1 reference

31 July 2017

84-91

1 reference

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Epididymal cystadenomas in von Hippel-Lindau disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

A genetic register for von Hippel-Lindau disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Identification of the von Hippel-Lindau disease tumor suppressor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

von Hippel-Lindau disease: genetic, clinical, and imaging features

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Von Hippel-Lindau disease: a genetic study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Nontraditional inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Mosaicism in sporadic neurofibromatosis 2 patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288351

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

28 October 2018

1 reference

12 December 2020

Genotype-phenotype correlations in von Hippel-Lindau disease

1 reference

12 December 2020

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

1 reference

12 December 2020

Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization

1 reference

12 December 2020

Equal stabilities of normal beta globin and nontranslatable beta0 -39 thalassemic transcripts in cell-free extracts

1 reference

12 December 2020

Identifiers

DOI

10.1086/302726

1 reference

31 July 2017

1 reference

31 July 2017

1 reference