(Q34385154)

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Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis

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Europe PubMed Central

PubMed publication ID

1 August 2017

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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1 reference

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author name string

Smolarek TA

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Wessner LL

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

McCormack FX

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mylet JC

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Menon AG

5

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Europe PubMed Central

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1 August 2017

Henske EP

6

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Europe PubMed Central

PubMed publication ID

1 August 2017

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publication date

1 April 1998

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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1 August 2017

62

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Europe PubMed Central

PubMed publication ID

1 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

810-815

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Analysis of genetic linkage and somatic loss of heterozygosity in affected pairs of first-degree relatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Somatic mutation of the MEN1 gene in parathyroid tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Lymphangioleiomyomatosis: new insights

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Extrathoracic angiomyolipomas in lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Using loss of heterozygosity data in affected pedigree member linkage tests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Lymphangiomyomatosis and angiomyolipoma: closely related entities characterized by hamartomatous proliferation of HMB-45-positive smooth muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Whole genome amplification from a single cell: implications for genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Characterization of the smooth muscle cell infiltrate and associated connective matrix of lymphangiomyomatosis. Immunohistochemical and ultrastructural study of two cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Pulmonary lymphangiomyomatosis. A review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

6 July 2018

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

27 October 2018

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

27 October 2018

Lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377043

27 October 2018

Pulmonary Tuberous Sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How common are renal angiomyolipomas in patients with pulmonary lymphangiomyomatosis?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lymphangioleiomyomatosis and tuberous sclerosis: where is the border?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lung transplantation for lymphangioleiomyomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lymphangioleiomyomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A high-resolution linkage map of human 9q34.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angiomyolipoma of the kidney. Immunoreactivity with HMB-45. Light- and electron-microscopic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PCR-Based Genetic Linkage Map of Human Chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism and clinical variation in tuberous sclerosis complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 August 2017

release_y3rpz52d55fexcwzgmvbmuzj3y

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https://api.fatcat.wiki/v0/release/y3rpz52d55fexcwzgmvbmuzj3y

24 November 2022

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Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

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1 August 2017

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