(Q64446137)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16896922%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Clinical and molecular genetic features of ARC syndrome (English)

1 reference

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28 December 2019

1

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28 December 2019

Emmanuelle Génin

4

1 reference

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28 December 2019

Almuth Caliebe

5

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28 December 2019

David R. FitzPatrick

11

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28 December 2019

Eamonn R Maher

22

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Maria Teresa Vieira Sanseverino

28 December 2019

18

object named as

Maria Teresa Vieira Sanseverino

1 reference

28 December 2019

Louise Tee

2

1 reference

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28 December 2019

David Chitayat

6

1 reference

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28 December 2019

Carol Clericuzio

7

1 reference

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28 December 2019

Jonas Denecke

8

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28 December 2019

Maja Di Rocco

9

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28 December 2019

Björn Fischler

10

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28 December 2019

Angeles García-Cazorla

12

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28 December 2019

Delphine Guyot

13

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28 December 2019

Sebastien Jacquemont

14

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28 December 2019

Sibylle Koletzko

15

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28 December 2019

Bruno Leheup

16

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28 December 2019

Hanna Mandel

17

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28 December 2019

Colin A Johnson

3

1 reference

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28 December 2019

Roderick H J Houwen

19

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28 December 2019

Patrick J McKiernan

20

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28 December 2019

Deirdre A Kelly

21

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28 December 2019

publication date

1 August 2006

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28 December 2019

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28 December 2019

volume

120

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28 December 2019

page(s)

396-409

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28 December 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-006-0232-z

28 December 2019

exact match

0 references

cites work

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype

1 reference

12 December 2020

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

1 reference

12 December 2020

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

1 reference

12 December 2020

[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]

1 reference

12 December 2020

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis

1 reference

12 December 2020

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

1 reference

12 December 2020

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

1 reference

12 December 2020

Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families

1 reference

12 December 2020

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

1 reference

12 December 2020

Liver biopsy complicated by hemorrhage in a patient with ARC syndrome

1 reference

12 December 2020

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review

1 reference

12 December 2020

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

1 reference

12 December 2020

Arthrogryposis, renal dysfunction and cholestasis syndrome.

1 reference

12 December 2020

A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease

1 reference

12 December 2020

Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?

1 reference

12 December 2020

ARC syndrome: an expanding range of phenotypes

1 reference

12 December 2020