(Q28146037)

5

object named as

L Crisponi

0 references

Giuseppe Pilia

1

object named as

G Pilia

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author name string

M Uda

2

0 references

D Macis

3

0 references

F Frau

4

0 references

F Balli

6

0 references

C Barbera

7

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C Colombo

8

0 references

T Frediani

9

0 references

R Gatti

10

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R Iorio

11

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M G Marazzi

12

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M Marcellini

13

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S Musumeci

14

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P Vajro

16

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G Ruffa

17

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L Zancan

18

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A Cao

19

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S DeVirgilis

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

20

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language of work or name

English

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publication date

1999

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published in

Human Mutation

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volume

14

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issue

5

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page(s)

394-400

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Studies of the aetiology of neonatal hepatitis and biliary atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Single amino acid substitutions in EGF-like elements of Notch and Delta modify Drosophila development and affect cell adhesion in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1

Mutational analysis of the Jagged 1 gene in Alagille syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C394%3A%3AAID-HUMU5%3E3.0.CO%3B2-1