(Q37118375)

18 August 2017

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation (English)

1 reference

18 August 2017

1 reference

18 August 2017

Farkhondeh Behjati

1 reference

18 August 2017

Masoud Garshasbi

0 references

Valeh Hadavi

1 reference

18 August 2017

Haleh Habibi

1 reference

18 August 2017

Kimia Kahrizi

1 reference

18 August 2017

Roxana Kariminejad

1 reference

18 August 2017

Andreas Tzschach

1 reference

18 August 2017

Hans Hilger Ropers

1 reference

18 August 2017

Andreas Walter Kuss

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 May 2008

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

1158-1164

1 reference

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Congenital disorders of glycosylation: a rapidly expanding disease family

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Global variation in copy number in the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Neurotrophin-regulated signalling pathways

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

X-linked mental retardation: many genes for a complex disorder

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

An evolving view of the eukaryotic oligosaccharyltransferase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Towards a proteome-scale map of the human protein–protein interaction network

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

The role of protein phosphatase-1 in the modulation of synaptic and structural plasticity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Allegro, a new computer program for multipoint linkage analysis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Common deletion polymorphisms in the human genome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Protein phosphatase 1 is a molecular constraint on learning and memory.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

Physical mapping of chromosome 8p22 markers and their homozygous deletion in a metastatic prostate cancer.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

The Saccharomyces cerevisiae oligosaccharyltransferase is a protein complex composed of Wbp1p, Swp1p, and four additional polypeptides.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2651624

GRR: graphical representation of relationship errors

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18452889

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A high-resolution survey of deletion polymorphism in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18452889

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.03.018

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18452889

1 reference