Familial adult renal neoplasia (Q34515955)

2 August 2017

1 reference

title

Familial adult renal neoplasia (English)

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2 August 2017

5

Teh BT

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2 August 2017

Takahashi M

1

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2 August 2017

Kahnoski R

series ordinal

2

1 reference

2 August 2017

Gross D

series ordinal

3

1 reference

2 August 2017

Nicol D

series ordinal

4

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2 August 2017

language of work or name

English

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publication date

1 January 2002

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Journal of Medical Genetics

2 August 2017

published in

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2 August 2017

volume

39

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2 August 2017

issue

1

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2 August 2017

page(s)

1-5

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Genotype-phenotype correlation in von Hippel-Lindau syndrome

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Inherited susceptibility to uterine leiomyomas and renal cell cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Prognostic utility of the recently recommended histologic classification and revised TNM staging system of renal cell carcinoma: a Swiss experience with 588 tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Genetic susceptibility to non-polyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Activating mutations for the met tyrosine kinase receptor in human cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dubé syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

A cross sectional study of renal involvement in tuberous sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Identification of the von Hippel-Lindau disease tumor suppressor gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Molecular cytogenetics of renal cell tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Mutations of the VHL tumour suppressor gene in renal carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Hereditary papillary renal cell carcinoma: clinical studies in 10 families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Multiple fibrofolliculomas and trichodiscomas.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Evidence that the gene for tuberous sclerosis is on chromosome 9

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

A genetic model for colorectal tumorigenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Reviews on chromosome studies in urological tumors. I. Renal tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Hereditary Renal-Cell Carcinoma Associated with a Chromosomal Translocation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Mechanism of tumorigenesis of renal carcinomas associated with the constitutional chromosome 3;8 translocation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734964

Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma

27 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Fibrofolliculoma: a clinicopathologic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Familial renal oncocytoma: clinicopathological study of 5 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Renal Cell Cancer: Chromosome 3 Translocations as Risk Factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Familial multiple trichodiscomas. A clinicopathologic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Fibrofolliculoma: solitary and multiple types

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Familial non-VHL non-papillary clear-cell renal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Papillary (chromophil) renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

von Hippel-Lindau disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11826016

12 December 2020

Identifiers

DOI

10.1136/JMG.39.1.1

1 reference

2 August 2017

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2 August 2017

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