Alagille syndrome and deletion of 20p. (Q33598352)

28 July 2017

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title

Alagille syndrome and deletion of 20p. (English)

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28 July 2017

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Anad F

1

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28 July 2017

Burn J

2

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28 July 2017

Matthews D

3

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28 July 2017

Cross I

4

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28 July 2017

Davison BC

5

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28 July 2017

Mueller R

6

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28 July 2017

Sands M

7

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28 July 2017

Lillington DM

8

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28 July 2017

Eastham E

9

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28 July 2017

language of work or name

English

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publication date

1 December 1990

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

27

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28 July 2017

issue

12

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28 July 2017

page(s)

729-737

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Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

Deletion of the short arms of chromosome 20

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

A partial short arm deletion of chromosome 20:46, XY, del(20)(p11)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

Del(20p) with manifestations of arteriohepatic dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017275

Arteriohepatic dysplasia: phenotypic features and family studies

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Deletion of the short arm of chromosome 20

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Deletion of the short arm of chromosome 20

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2074558

12 December 2020

Identifiers

DOI

10.1136/JMG.27.12.729

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28 July 2017

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28 July 2017

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