Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion (Q28281114)

Kathleen J Millen

10

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Eva Klopocki

Eva Klopocki

6

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William B. Dobyns

William B Dobyns

12

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Denise Horn

5

Denise Horn

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author name string

Kimberly A Aldinger

1

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Jillene Kogan

2

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Virginia Kimonis

3

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Bridget Fernandez

4

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Brian Chung

7

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Rosanna Weksberg

9

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A James Barkovich

American Journal of Medical Genetics Part A

11

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language of work or name

English

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publication date

January 2013

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published in

1 reference

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

PubMed

volume

161A

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page(s)

131-6

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issue

1

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Structural variation of chromosomes in autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Contribution of SHANK3 mutations to autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Strong association of de novo copy number mutations with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

An architectural framework that may lie at the core of the postsynaptic density

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Disorders of the Cerebellum: Ataxia, Dysmetria of Thought, and the Cerebellar Cognitive Affective Syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Detection of large-scale variation in the human genome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

The Allen Brain Atlas: 5 years and beyond

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Requirement of JIP scaffold proteins for NMDA-mediated signal transduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

The developmental neurobiology of autism spectrum disorder.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Neuroanatomic observations of the brain in autism: a review and future directions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

22q13 deletion syndrome: an update and review for the primary pediatrician

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3733662

Differential effects of developmental cerebellar abnormality on cognitive and motor functions in the cerebellum: an fMRI study of autism.

29 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

MRI neuroanatomy in young girls with autism: a preliminary study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

Plexin-B2 controls the development of cerebellar granule cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

Further delineation of the 22q13 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

The expression of plexins during mouse embryogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

Disorders of cognitive and affective development in cerebellar malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35700

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35700

1 reference

478342

478342

1 reference

1 reference

1 reference