(Q21091190)

16 August 2022

Blake C Ballif

2

Blake C

Ballif

1 reference

16 August 2022

Ann Lucas

3

Ann

Lucas

1 reference

16 August 2022

Edward J Spence

4

Edward J

Spence

1 reference

16 August 2022

Cynthia Powell

5

Cynthia

Powell

1 reference

16 August 2022

Arthur S Aylsworth

6

Arthur S

Aylsworth

1 reference

16 August 2022

Beth A Torchia

7

Beth A

Torchia

1 reference

16 August 2022

Lisa G Shaffer

8

Lisa G

Shaffer

1 reference

Creative Commons Attribution 4.0 International

16 August 2022

language of work or name

English

0 references

publication date

2009

0 references

published in

PLOS One

0 references

volume

4

0 references

issue

8

0 references

page(s)

e6568

0 references

copyright license

start time

10 August 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Structural variation of chromosomes in autism spectrum disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE).

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Satb2 regulates callosal projection neuron identity in the developing cerebral cortex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Identification of SATB2 as the cleft palate gene on 2q32-q33.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

A locus for isolated cleft palate, located on human chromosome 2q32

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Molecular characterization of de novo secondary trisomy 13.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2: a dose study on isocitrate dehydrogenase 1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of long arm of chromosome 2(q31q33).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of chromosome 2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719055

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006568

Deletions in chromosome 2 and fragile sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006568

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006568

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0006568

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19668335

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial deletion 2q31 leads to q33

1 reference

https://pubmed.ncbi.nlm.nih.gov/19668335

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0006568

1 reference

ADS bibcode

2009PLoSO...4.6568R

0 references

1 reference

1 reference

1 reference