Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. (Q37082780)

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15 January 2020

title

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome (English)

1 reference

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15 January 2020

0 references

6

1 reference

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15 January 2020

Dariusz Gruszfeld

7

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15 January 2020

Rachid Sougrat

11

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15 January 2020

Paul Gissen

22

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15 January 2020

21

Eamonn R Maher

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15 January 2020

author name string

Andrew R Cullinane

1

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15 January 2020

Anna Straatman-Iwanowska

2

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15 January 2020

Jeong K Seo

3

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15 January 2020

Jae S Ko

4

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15 January 2020

Kyung S Song

5

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15 January 2020

Dorota Gliwicz

8

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15 January 2020

Beyhan Tuysuz

9

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15 January 2020

Gulin Erdemir

10

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15 January 2020

Yoshiyuki Wakabayashi

12

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15 January 2020

Rupert Hinds

13

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15 January 2020

Angela Barnicoat

14

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15 January 2020

Hanna Mandel

15

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15 January 2020

David Chitayat

16

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15 January 2020

Björn Fischler

17

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15 January 2020

Angels Garcia-Cazorla

18

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15 January 2020

A S Knisely

19

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15 January 2020

Deirdre A Kelly

20

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15 January 2020

publication date

1 February 2009

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15 January 2020

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15 January 2020

volume

30

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15 January 2020

page(s)

E330-7

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15 January 2020

issue

2

1 reference

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

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

Identification of novel VHL target genes and relationship to hypoxic response pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635429

Clinical and molecular genetic features of ARC syndrome

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18853461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.20900

1 reference

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15 January 2020

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15 January 2020

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