(Q25256135)

6 July 2017

title

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2) (English)

1 reference

6 July 2017

0 references

Seema R Lalani

1

1 reference

6 July 2017

Trilochan Sahoo

2

1 reference

6 July 2017

Merideth E Sanders

3

1 reference

6 July 2017

Sarika U Peters

4

1 reference

6 July 2017

Bassem A Bejjani

5

1 reference

6 July 2017

language of work or name

English

0 references

publication date

10 February 2006

1 reference

6 July 2017

1 reference

6 July 2017

volume

7

1 reference

6 July 2017

issue

1

0 references

page(s)

8

1 reference

Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Altered expression of ADAMs (A Disintegrin And Metalloproteinase) in fibrillating human atria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Differential expression of ARPP-16 and ARPP-19, two highly related cAMP-regulated phosphoproteins, one of which is specifically associated with dopamine-innervated brain regions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

28 September 2017

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-8

Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-8

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-8

Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)]

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-8

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-8

Evidence for a new microdeletion syndrome in 15q21.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Interstitial deletion of chromosome 15: two cases

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1397801

Narrowing the deleted region associated with the 15q21 syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16472378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial deletion of the long arm of chromosome 15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16472378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16472378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-7-8

1 reference

Dimensions Publication ID

6 July 2017

0 references

1 reference

6 July 2017

1 reference