(Q51994229)

19 April 2018

meta-analysis

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title

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. (English)

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19 April 2018

main subject

United States of America

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5

Steven P Sparagana

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19 April 2018

author name string

Kit Sing Au

1

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19 April 2018

Aimee T Williams

2

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19 April 2018

E Steve Roach

3

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19 April 2018

Lori Batchelor

4

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19 April 2018

Mauricio R Delgado

6

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James W Wheless

7

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19 April 2018

James E Baumgartner

8

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19 April 2018

Benjamin B Roa

9

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19 April 2018

Carolyn M Wilson

10

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19 April 2018

Teresa K Smith-Knuppel

11

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Min-Yuen C Cheung

12

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19 April 2018

Vicky H Whittemore

13

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Terri M King

14

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Hope Northrup

15

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language of work or name

English

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publication date

1 February 2007

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19 April 2018

published in

Genetics in Medicine

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19 April 2018

volume

9

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19 April 2018

page(s)

88-100

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19 April 2018

issue

2

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19 April 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31803068c7

exact match

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cites work

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

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/10.1097%2FGIM.0B013E31803068C7

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/10.1097%2FGIM.0B013E31803068C7

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/10.1097%2FGIM.0B013E31803068C7

Genotype and psychological phenotype in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

High rate of mosaicism in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Germ-line mosaicism in tuberous sclerosis: how common?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Multiple roles of the tuberous sclerosis complex genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

p27kip1 independently promotes neuronal differentiation and migration in the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Estradiol and tamoxifen stimulate LAM-associated angiomyolipoma cell growth and activate both genomic and nongenomic signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

Variability of expression in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803068C7

10.1097/GIM.0B013E31803068C7

21 January 2018

Identifiers

DOI

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19 April 2018

Dimensions Publication ID

0 references

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19 April 2018