(Q59619315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19940839%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19940839%20AND%20SRC:MED&resulttype=core&format=json

autosomal recessive polycystic kidney

12 February 2020

main subject

0 references

1 reference

5

1 reference

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12 February 2020

Jacques Elion

8

1 reference

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12 February 2020

1

Erick Denamur

1 reference

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12 February 2020

author name string

Anne-Lise Delezoide

2

1 reference

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12 February 2020

Corinne Alberti

3

1 reference

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12 February 2020

Agnès Bourillon

4

1 reference

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12 February 2020

Raymonde Bouvier

6

1 reference

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12 February 2020

Olivier Pascaud

7

1 reference

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12 February 2020

Bernard Grandchamp

9

1 reference

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12 February 2020

Laurence Michel-Calemard

10

1 reference

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12 February 2020

Pascale Missy

11

1 reference

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12 February 2020

Isabelle Zaccaria

12

1 reference

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12 February 2020

Hervé Le Nagard

13

1 reference

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12 February 2020

Bénédicte Gerard

14

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12 February 2020

Chantal Loirat

15

1 reference

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12 February 2020

Société Française de Foetopathologie

16

1 reference

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12 February 2020

J Barbet

17

1 reference

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12 February 2020

A M Beaufrère

18

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12 February 2020

C Berchel

19

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12 February 2020

B Bessières

20

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12 February 2020

S Boudjemaa

21

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12 February 2020

A Buenerd

22

1 reference

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12 February 2020

D Carles

23

1 reference

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12 February 2020

A Clemenson

24

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12 February 2020

P Dechelotte

25

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12 February 2020

L Devisme

26

1 reference

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12 February 2020

F Dijoud

27

1 reference

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12 February 2020

O Espérandieu

28

1 reference

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12 February 2020

C Fallet

29

1 reference

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12 February 2020

M Gonzalès

30

1 reference

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12 February 2020

Y Hillion

31

1 reference

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12 February 2020

B Jacob

32

1 reference

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12 February 2020

M Joubert

33

1 reference

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12 February 2020

P Kermanach

34

1 reference

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12 February 2020

A Lallemand

35

1 reference

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12 February 2020

A Laquerrière

36

1 reference

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12 February 2020

N Laurent

37

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12 February 2020

A Liprandi

38

1 reference

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12 February 2020

L Loeuillet

39

1 reference

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12 February 2020

P Loget

40

1 reference

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12 February 2020

J Martinovic

41

1 reference

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12 February 2020

F Ménez

42

1 reference

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12 February 2020

F Narcy

43

1 reference

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12 February 2020

J J Roux

44

1 reference

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12 February 2020

C Rouleau-Dubois

45

1 reference

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12 February 2020

M Sinico

46

1 reference

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12 February 2020

J Tantau

47

1 reference

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12 February 2020

A R Wann

48

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12 February 2020

language of work or name

English

0 references

publication date

25 November 2009

1 reference

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12 February 2020

1 reference

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12 February 2020

volume

77

1 reference

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12 February 2020

issue

4

1 reference

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12 February 2020

page(s)

350-358

1 reference

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https://scigraph.springernature.com/pub.10.1038/ki.2009.440

12 February 2020

exact match

0 references

cites work

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Liver disease in autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Congenital murine polycystic kidney disease. I. The ontogeny of tubular cyst formation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Renal and biliary abnormalities in a new murine model of autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Renal cysts in pediatric patients. A classification and overview

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.440

7 January 2021

Identifiers

DOI

10.1038/KI.2009.440

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19940839%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference