(Q28146039)

2

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A Banwell

3

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E Hammer

4

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J Lewis

5

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R L Beauchamp

6

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K Sims

7

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V Ramesh

8

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L Ozelius

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

9

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language of work or name

English

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publication date

1999

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published in

Human Mutation

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volume

14

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page(s)

412-22

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issue

5

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

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/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.

21 January 2018

1 reference

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Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene

21 January 2018

1 reference

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Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

21 January 2018

1 reference

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Expression and differential splicing of the mouse TSC2 homolog.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

21 January 2018

1 reference

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Germ-line mosaicism in tuberous sclerosis: how common?

21 January 2018

1 reference

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Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

21 January 2018

1 reference

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Loss of heterozygosity in tuberous sclerosis hamartomas.

21 January 2018

1 reference

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A role of the tuberous sclerosis gene-2 product during neuronal differentiation

21 January 2018

1 reference

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

21 January 2018

1 reference

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High rate of mosaicism in tuberous sclerosis complex

21 January 2018

1 reference

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Non-penetrance in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

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/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

GENETICS OF TUBEROUS SCLEROSIS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C412%3A%3AAID-HUMU7%3E3.0.CO%3B2-K

10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1664204

1664204

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference