(Q34508924)

2 August 2017

title

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis (English)

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2 August 2017

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Aristotelis Astrinidis

series ordinal

object named as

A Astrinidis

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2 August 2017

T Carsillo

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2 August 2017

E P Henske

series ordinal

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2 August 2017

language of work or name

English

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publication date

1 May 2000

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Proceedings of the National Academy of Sciences of the United States of America

2 August 2017

published in

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

6085-6090

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Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis

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=18562

Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with 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=18562

Germ-line mosaicism in tuberous sclerosis: how common?

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Angiomyolipoma of kidney.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Lymphangioleiomyomatosis: new insights

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of 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=18562

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Identification and characterization of the tuberous sclerosis gene on chromosome 16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Mutation and cancer: statistical study of retinoblastoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

Causes of Death in Patients With 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=18562

Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis 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=18562

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18562

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=18562

Somatic mosaicism and clinical variation in tuberous sclerosis complex

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Lymphangiomyomatosis recurrence in the allograft after single-lung transplantation

1 reference

12 December 2020

How common are renal angiomyolipomas in patients with pulmonary lymphangiomyomatosis?

1 reference

12 December 2020

Lymphangioleiomyomatosis and tuberous sclerosis: where is the border?

1 reference

12 December 2020

Pulmonary lymphangiomyoma, a probable forme frust of tuberous sclerosis. A case report and survey of the literature

1 reference

12 December 2020

Pulmonary lymphangioleiomyomatosis and Bourneville's tuberous sclerosis with pulmonary involvement: the same disease?

1 reference

12 December 2020

Lymphangioleiomyomatosis: recurrence after lung transplantation

1 reference

12 December 2020

Pulmonary Tuberous Sclerosis

1 reference

12 December 2020

Lung transplantation for lymphangioleiomyomatosis

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12 December 2020

Lymphangioleiomyomatosis: recurrence after single lung transplantation

1 reference

12 December 2020

Multiple smooth muscle tumors arising in deep soft tissue of lower limbs with uterine leiomyomas

1 reference

12 December 2020

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

12 December 2020

Lymphangioleiomyomatosis: a review

1 reference

12 December 2020

NHLBI Workshop Summary. Report of workshop on lymphangioleiomyomatosis. National Heart, Lung, and Blood Institute

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst

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12 December 2020

Comprehensive Evaluation of 35 Patients With Lymphangioleiomyomatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.97.11.6085

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2 August 2017

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2 August 2017

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