Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome (Q33906995)

29 July 2017

0 references

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome (English)

1 reference

29 July 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Takayuki Yokoi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Noriko Aida

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Seiji Mizuno

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Hiroshi Suzumura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Junichi Nagai

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Kazumi Ida

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Yumi Enomoto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Chihiro Hatano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Kenji Kurosawa

10

1 reference

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5 June 2020

language of work or name

1 reference

22 May 2017

1 reference

Molecular genetics & genomic medicine

29 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

5

1 reference

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5 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

429-437

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Synaptic, transcriptional and chromatin genes disrupted in autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

De Novo Gene Disruptions in Children on the Autistic Spectrum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Phenotypic spectrum associated with CASK loss-of-function mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Further characterization of microdeletion syndrome involving 2p15-p16.1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Neuroradiologic features of CASK mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Cerebellum, language, and cognition in autism and specific language impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

An essential switch in subunit composition of a chromatin remodeling complex during neural development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5511803

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

5 July 2018

1 reference

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

21 January 2018

1 reference

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

21 January 2018

1 reference

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

21 January 2018

1 reference

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

21 January 2018

1 reference

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

21 January 2018

1 reference

Deletion 2p15-16.1 syndrome: Case report and review

21 January 2018

1 reference

De novo microdeletion of BCL11A is associated with severe speech sound disorder

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28717667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hypogammaglobulinemia and impaired antibody response in a child with chromosome 2p15-16.1 microdeletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28717667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28717667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28717667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference