(Q35877816)

10 August 2017

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome (English)

1 reference

10 August 2017

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Vincent Cantagrel

8

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Hudson H. Freeze

object named as

Hudson H Freeze

15

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Amy S. Paller

object named as

Amy S Paller

10

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Joseph G Gleeson

9

object named as

Joseph G Gleeson

1 reference

10 August 2017

Bobby G Ng

1

1 reference

10 August 2017

Karl Hackmann

2

1 reference

10 August 2017

Melanie A Jones

3

1 reference

10 August 2017

Alexey M Eroshkin

4

1 reference

10 August 2017

Ping He

5

1 reference

10 August 2017

Roy Wiliams

6

1 reference

10 August 2017

Shruti Bhide

7

1 reference

10 August 2017

Rhonda E Schnur

11

1 reference

10 August 2017

Sigrid Tinschert

12

1 reference

10 August 2017

Janice Zunich

13

1 reference

10 August 2017

Madhuri R Hegde

14

1 reference

10 August 2017

language of work or name

English

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publication date

22 March 2012

1 reference

American Journal of Human Genetics

10 August 2017

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10 August 2017

90

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10 August 2017

4

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10 August 2017

685-688

1 reference

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Dystroglycanopathies: coming into focus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

What syndrome is this? CHIME syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322218

10.1016/J.AJHG.2012.02.010

24 September 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22444671

1 reference