(Q32033134)

5 July 2017

title

The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis (English)

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5 July 2017

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Strizheva GD

1

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5 July 2017

Carsillo T

2

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5 July 2017

Kruger WD

3

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5 July 2017

Sullivan EJ

4

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5 July 2017

Ryu JH

5

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5 July 2017

Henske EP

6

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5 July 2017

language of work or name

English

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publication date

1 January 2001

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American Journal of Respiratory and Critical Care Medicine

5 July 2017

published in

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5 July 2017

volume

163

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5 July 2017

issue

1

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5 July 2017

page(s)

253-258

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5 July 2017

cites work

Lymphangioleiomyomatosis

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https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Lymphangioleiomyomatosis: new insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Germ-line mosaicism in tuberous sclerosis: how common?

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

Pulmonary Tuberous Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FAJRCCM.163.1.2005004

10.1164/AJRCCM.163.1.2005004

21 January 2018

Identifiers

DOI

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5 July 2017

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