(Q63681400)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

serpentine fibula-polycystic kidney syndrome

8 February 2020

main subject

1 reference

inferred from title

author

Valérie Cormier-Daire

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Bertrand Isidor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Martine Le Merrer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Olivier Pichon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Gaelle Thierry

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Anne Guiochon-Mantel

6

1 reference

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8 February 2020

Albert David

7

1 reference

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8 February 2020

Cédric Le Caignec

9

1 reference

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8 February 2020

G Ulrich Exner

3

1 reference

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8 February 2020

publication date

12 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

11

1 reference

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8 February 2020

page(s)

1239-1242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

8 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Hajdu--Cheney syndrome: evolution of phenotype and clinical problems

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Hajdu-Cheney syndrome: report of a case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Notch2 activation in the embryonic kidney depletes nephron progenitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Cystic kidney disease in Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

The canonical Notch signaling pathway: unfolding the activation mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21563

7 January 2021

Identifiers

DOI

10.1002/HUMU.21563

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21793104%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference