(Q34009775)

English

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region (English)

1 reference

Europe PubMed Central

30 July 2017

autism spectrum disorder

0 references

0 references

microdeletion syndrome

1 reference

based on heuristic

inferred from title

Catalina Betancur

11

1 reference

Europe PubMed Central

30 July 2017

12

1 reference

Europe PubMed Central

30 July 2017

Hakon Hakonarson

10

object named as

Hakon Hakonarson

1 reference

Europe PubMed Central

30 July 2017

Joseph Glessner

object named as

Joseph Glessner

9

1 reference

ORCID Public Data File 2021

3

object named as

Marion Pilorge

1 reference

Europe PubMed Central

30 July 2017

Patricia Jiménez González

5

object named as

Patricia Jiménez González

1 reference

Europe PubMed Central

30 July 2017

2

object named as

Alisa Nakamine

1 reference

Europe PubMed Central

30 July 2017

author name string

L Alison McInnes

1

1 reference

Europe PubMed Central

30 July 2017

Tracy Brandt

4

1 reference

Europe PubMed Central

30 July 2017

Marietha Fallas

6

1 reference

Europe PubMed Central

30 July 2017

Elina R Manghi

7

1 reference

Europe PubMed Central

30 July 2017

Lisa Edelmann

8

1 reference

Europe PubMed Central

30 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

19 March 2010

1 reference

Europe PubMed Central

30 July 2017

Molecular Autism

1 reference

Europe PubMed Central

30 July 2017

1

1 reference

Europe PubMed Central

30 July 2017

5

1 reference

Europe PubMed Central

30 July 2017

1

1 reference

Europe PubMed Central

30 July 2017

https://scigraph.springernature.com/pub.10.1186/2040-2392-1-5

0 references

A genome-wide linkage and association scan reveals novel loci for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Advances in autism genetics: on the threshold of a new neurobiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Expression patterns of semaphorin7A and plexinC1 during rat neural development suggest roles in axon guidance and neuronal migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

The role of cytochrome P450 enzymes in endogenous signalling pathways and environmental carcinogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Constitutional downregulation of SEMA5A expression in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Common cues in vascular and axon guidance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Semaphorin 7A promotes axon outgrowth through integrins and MAPKs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

5 July 2018

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

29 October 2018

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

29 October 2018

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907565

29 October 2018

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/20678247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/2040-2392-1-5

1 reference

Europe PubMed Central

30 July 2017

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1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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