(Q35032843)

5 August 2017

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis (English)

1 reference

Margaret A. Pericak-Vance

5 August 2017

0 references

1 reference

12

object named as

Margaret A Pericak-Vance

0 references

author name string

Anthony J Griswold

1

1 reference

5 August 2017

Deqiong Ma

2

1 reference

5 August 2017

Stephanie J Sacharow

3

1 reference

5 August 2017

Joycelyn L Robinson

4

1 reference

5 August 2017

James M Jaworski

5

1 reference

5 August 2017

Harry H Wright

6

1 reference

5 August 2017

Ruth K Abramson

7

1 reference

5 August 2017

Helle Lybaek

8

1 reference

5 August 2017

Nina Øyen

9

1 reference

5 August 2017

Michael L Cuccaro

10

1 reference

5 August 2017

John R Gilbert

11

1 reference

5 August 2017

28 February 2011

1 reference

5 August 2017

1 reference

5 August 2017

4

1 reference

5 August 2017

3

1 reference

5 August 2017

221-227

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Common genetic variants on 5p14.1 associate with autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

The role of rare structural variants in the genetics of autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Strong association of de novo copy number mutations with autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Detection of large-scale variation in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Churchill, a zinc finger transcriptional activator, regulates the transition between gastrulation and neurulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Identification and characterization of the tuberous sclerosis gene on chromosome 16

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Autism as a strongly genetic disorder: evidence from a British twin study

8 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

8 July 2018

Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

Concordance for the syndrome of autism in 40 pairs of afflicted twins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110642

MECP2 mutations account for most cases of typical forms of Rett syndrome.

8 July 2018

1 reference

Hereditary spherocytosis; new guidelines

21 January 2018

1 reference

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

21 January 2018

1 reference

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

21 January 2018

1 reference

Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21360829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21360829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21360829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AUR.186

1 reference

5 August 2017

1 reference

5 August 2017

1 reference