(Q64129315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568926%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568926%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

Małgorzata Krajewska-Walasek

7

1 reference

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11 November 2019

author name string

P Stankiewicz

1

1 reference

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11 November 2019

J Rujner

2

1 reference

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11 November 2019

C Löffler

3

1 reference

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11 November 2019

A Krüger

4

1 reference

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11 November 2019

M Nimmakayalu

5

1 reference

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11 November 2019

B Piłacik

6

1 reference

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11 November 2019

A Gutkowska

8

1 reference

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11 November 2019

I Hansmann

9

1 reference

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11 November 2019

I Giannakudis

10

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11 November 2019

language of work or name

English

0 references

publication date

1 October 2001

1 reference

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American Journal of Medical Genetics Part A

11 November 2019

published in

1 reference

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11 November 2019

volume

103

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11 November 2019

page(s)

166-171

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11 November 2019

issue

2

1 reference

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Alagille syndrome and deletion of 20p.

11 November 2019

cites work

1 reference

JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome

21 January 2018

1 reference

Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization

21 January 2018

1 reference

JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype

21 January 2018

1 reference

21 January 2018

1 reference

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization

21 January 2018

1 reference

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

21 January 2018

1 reference

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

21 January 2018

1 reference

Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)

21 January 2018

1 reference

Jagged1 mutations in alagille syndrome

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1531

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11568926%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference