(Q33994507)

30 July 2017

title

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome (English)

1 reference

von Hippel-Lindau disease

30 July 2017

main subject

1 reference

10

Cezary Cybulski

1 reference

30 July 2017

Maciej R Krawczyński

4

1 reference

30 July 2017

9

Jan Lubiński

1 reference

30 July 2017

2

Anna Jakubowska

1 reference

30 July 2017

8

Wojciech Lubiński

1 reference

30 July 2017

6

Leszek Sagan

1 reference

30 July 2017

3

Jacek Gronwald

1 reference

30 July 2017

1

Karol Krzystolik

1 reference

30 July 2017

5

Monika Drobek-Słowik

1 reference

30 July 2017

Leszek Cyryłowski

7

1 reference

30 July 2017

publication date

18 June 2014

1 reference

Hereditary Cancer in Clinical Practice

30 July 2017

published in

1 reference

30 July 2017

volume

12

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

16

1 reference

The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

A novel ubiquitin ligase is deficient in Fanconi anemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

The Fanconi anaemia/BRCA pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Genetic basis of Fanconi anemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Biallelic inactivation of BRCA2 in Fanconi anemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Fanconi anemia and DNA repair

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Immunophenotypic and pathologic differences between BRCA1 and BRCA2 hereditary breast cancers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Clinical features and natural history of von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Von Hippel-Lindau disease: a genetic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1897-4287-12-16

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1897-4287-12-16

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4120008

von Hippel-Lindau disease

29 October 2018

1 reference

12 December 2020

Genotype-phenotype correlations in VHL exon deletions

1 reference

12 December 2020

Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study

1 reference

12 December 2020

von Hippel-Lindau disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1897-4287-12-16

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference