Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). (Q39514878)

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20 March 2020

title

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) (English)

1 reference

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autosomal dominant polycystic kidney disease

20 March 2020

main subject

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autosomal dominant polycystic kidney

inferred from title

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3

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20 March 2020

Alberto Edefonti

12

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17

Alessandra Boletta

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20 March 2020

16

Paolo Manunta

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20 March 2020

8

Piergiorgio Messa

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20 March 2020

author name string

Paola Carrera

1

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20 March 2020

Silvia Calzavara

2

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20 March 2020

Johan T den Dunnen

4

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Francesca Rigo

5

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20 March 2020

Stefania Stenirri

6

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Francesca Testa

7

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Roberta Cerutti

9

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Francesco Scolari

10

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Claudia Izzi

11

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Susanna Negrisolo

13

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20 March 2020

Elisa Benetti

14

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Maria Teresa Sciarrone Alibrandi

15

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Maurizio Ferrari

18

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language of work or name

English

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publication date

8 August 2016

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20 March 2020

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volume

6

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page(s)

30850

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Creative Commons Attribution 4.0 International

20 March 2020

copyright license

start time

1 August 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

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Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

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Autosomal dominant polycystic kidney disease

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Crossref

https://api.crossref.org/works/10.1038%2FSREP30850

Phylogenetic Hidden Markov Models

21 January 2018

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Early manifestations of polycystic kidney disease

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12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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12 December 2020

Large deletions in the polycystic kidney disease 1 (PKD1) gene

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12 December 2020

A complete mutation screen of the ADPKD genes by DHPLC

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12 December 2020

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

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12 December 2020

Identifiers

DOI

10.1038/SREP30850

1 reference

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20 March 2020

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20 March 2020

PubMed publication ID

27499327

1 reference