(Q34321198)

1 August 2017

title

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

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1 August 2017

Brook-Carter PT

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1 August 2017

Peral B

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1 August 2017

Ward CJ

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1 August 2017

Thompson P

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1 August 2017

Hughes J

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1 August 2017

Maheshwar MM

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1 August 2017

Nellist M

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1 August 2017

Gamble V

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1 August 2017

Harris PC

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1 August 2017

Sampson JR

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1 August 2017

language of work or name

English

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publication date

1 December 1994

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

328-332

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Causes of Death in Patients With Tuberous Sclerosis

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

Tuberous Sclerosis With Striking Renal Involvement in a Family

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG1294-328

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

21 January 2018

Questions of expansion

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https://api.crossref.org/works/10.1038%2FNG1294-328

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Renal lesions in tuberous sclerosis

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https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Renal involvement in tuberous sclerosis complex: a retrospective survey

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https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant

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https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

The cystic renal lesion in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Tuberous sclerosis and polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Polycystic kidney disease in the first year of life

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Renal involvement in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

1 reference

https://api.crossref.org/works/10.1038%2FNG1294-328

7 January 2021

Identifiers

DOI

10.1038/NG1294-328

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Dimensions Publication ID

1 August 2017

1046632698

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1 reference