(Q47983543)

7 February 2018

title

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant (English)

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7 February 2018

polycystic kidney disease

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4

Gabriele Hahn

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7 February 2018

author name string

Martin W Laass

1

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7 February 2018

Miriam Spiegel

2

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7 February 2018

Anna Jauch

3

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7 February 2018

Edgar Rupprecht

5

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7 February 2018

Christian Vogelberg

6

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7 February 2018

Oliver Bartsch

7

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7 February 2018

Angela Huebner

8

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7 February 2018

publication date

9 March 2004

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7 February 2018

published in

Pediatric Nephrology

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7 February 2018

volume

19

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7 February 2018

issue

6

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7 February 2018

page(s)

602-608

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7 February 2018

https://scigraph.springernature.com/pub.10.1007/s00467-004-1442-z

exact match

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cites work

Autosomal dominant polycystic kidney disease--more than a renal disease

1 reference

12 December 2020

A cross sectional study of renal involvement in tuberous sclerosis

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12 December 2020

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

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12 December 2020

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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12 December 2020

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

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12 December 2020

Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development.

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12 December 2020

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

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12 December 2020

Evidence for genetic heterogeneity in tuberous sclerosis

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12 December 2020

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

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12 December 2020

Renal lesion growth in children with tuberous sclerosis complex

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12 December 2020

Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.

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12 December 2020

TSC1–TSC2: a complex tale of PKB-mediated S6K regulation

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12 December 2020

Infantile presentation of adult-type polycystic kidney disease in a large kindred

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12 December 2020

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12 December 2020

Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex

1 reference

12 December 2020

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

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12 December 2020

Progression of autosomal-dominant polycystic kidney disease in children

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12 December 2020

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

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12 December 2020

The cystic renal lesion in tuberous sclerosis

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12 December 2020

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease

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12 December 2020

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

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12 December 2020

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

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12 December 2020

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12 December 2020

Tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a 'contiguous gene' syndrome: report of a case

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12 December 2020

Causes of Death in Patients With Tuberous Sclerosis

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12 December 2020

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

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12 December 2020

The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease

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12 December 2020

Tuberous sclerosis and polycystic kidney disease

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12 December 2020

Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene

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12 December 2020

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

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12 December 2020

Molecular genetic advances in tuberous sclerosis

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12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

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12 December 2020

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

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12 December 2020

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

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12 December 2020

Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm

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12 December 2020

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

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12 December 2020

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue

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12 December 2020

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

1 reference

12 December 2020

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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12 December 2020

10.1007/S00467-004-1442-Z

Identifiers

DOI

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7 February 2018

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7 February 2018