Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. (Q52148968)

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scientific article published on 23 September 2015

Language	Label	Description	Also known as
English	Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.	scientific article published on 23 September 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. (English)

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

multiple congenital anomalies-hypotonia-seizures syndrome

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genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

12

object named as

Ada Hamosh

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

Thangamadhan Bosemani

10

object named as

Thangamadhan Bosemani

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

author name string

Leah Fleming

1

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Monica Lemmon

2

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Natalie Beck

3

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Maria Johnson

4

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Weiyi Mu

5

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

David Murdock

6

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Joann Bodurtha

7

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Julie Hoover-Fong

8

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Ronald Cohn

9

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

Kristin Barañano

11

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

language of work or name

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publication date

23 September 2015

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

American Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

170A

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

1

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23 April 2018

http://europepmc.org/abstract/PMC/4886552

77-86

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Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

The genotypic and phenotypic spectrum of PIGA deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

CNVs conferring risk of autism or schizophrenia affect cognition in controls

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

The genetic basis of DOORS syndrome: an exome-sequencing study

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Neurology of inherited glycosylation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Diseases of glycosylation beyond classical congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Structural remodeling, trafficking and functions of glycosylphosphatidylinositol-anchored proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Lipid remodeling of GPI-anchored proteins and its function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

22 May 2018

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

13 August 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

13 August 2018

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

13 August 2018

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886552

13 August 2018

Radicals r'aging

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37369

21 January 2018

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26394714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.37369

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

23 April 2018

http://europepmc.org/abstract/PMC/4886552

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