(Q36543066)

14 August 2017

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities (English)

1 reference

14 August 2017

28

1 reference

14 August 2017

2

Chad Shaw

1 reference

14 August 2017

16

James R Lupski

1 reference

14 August 2017

17

Pawel Stankiewicz

1 reference

14 August 2017

18

Carlos A Bacino

1 reference

14 August 2017

1

Seema R Lalani

1 reference

14 August 2017

10

Sung-Hae L Kang

1 reference

14 August 2017

25

Sau Wai Cheung

1 reference

14 August 2017

20

Arthur L Beaudet

1 reference

14 August 2017

14

Patricia Hixson

1 reference

14 August 2017

21

Fatima M Boricha

1 reference

14 August 2017

Xueqing Wang

3

1 reference

14 August 2017

Ankita Patel

4

1 reference

14 August 2017

Lance W Patterson

5

1 reference

14 August 2017

Katarzyna Kolodziejska

6

1 reference

14 August 2017

Przemyslaw Szafranski

7

1 reference

14 August 2017

Zhishuo Ou

8

1 reference

14 August 2017

Qi Tian

9

1 reference

14 August 2017

Amina Jinnah

11

1 reference

14 August 2017

Sophia Ali

12

1 reference

14 August 2017

Aamir Malik

13

1 reference

14 August 2017

Lorraine Potocki

15

1 reference

14 August 2017

Brian Dawson

19

1 reference

14 August 2017

Runako Whittaker

22

1 reference

14 August 2017

Chumei Li

23

1 reference

14 August 2017

Stephanie M Ware

24

1 reference

14 August 2017

Daniel J Penny

26

1 reference

14 August 2017

John Lynn Jefferies

27

1 reference

14 August 2017

language of work or name

1 reference

29 August 2012

1 reference

European Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

21

1 reference

14 August 2017

2

1 reference

14 August 2017

173-181

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.155

14 August 2017

0 references

cites work

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The changing epidemiology of congenital heart disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Characterising and predicting haploinsufficiency in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Detection of clinically relevant exonic copy-number changes by array CGH.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Haploinsufficiency of TAB2 causes congenital heart defects in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The challenge of congenital heart disease worldwide: epidemiologic and demographic facts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Role of Ca2+/calmodulin-stimulated cyclic nucleotide phosphodiesterase 1 in mediating cardiomyocyte hypertrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Genomic disorders ten years on.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The transcriptional coactivator CAMTA2 stimulates cardiac growth by opposing class II histone deacetylases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

SOX7 and SOX18 are essential for cardiogenesis in Xenopus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Identification and characterization of a novel human DNA glycosylase for repair of cytosine-derived lesions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The incidence of congenital heart disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Phenotypic variability of the cat eye syndrome. Case report and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Human Ca2+/calmodulin-dependent phosphodiesterase PDE1A: novel splice variants, their specific expression, genomic organization, and chromosomal localization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Racial and temporal variations in the prevalence of heart defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Congenital heart disease in adolescents and adults. Teratology, genetics, and recurrence risks.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Genetics of congenital heart disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Further delineation of the KBG syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

The contribution of chromosomal abnormalities to congenital heart defects: a population-based study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Prevalence of congenital heart disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

How should we explain variation in the genetic variance of traits?

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548268

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.155

KBG syndrome in a cohort of Italian patients

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.155

[Elfin facies, mental retardation and cardiovascular anomalies (Williams and Beuren's syndrome). Report of two cases]

21 January 2018

1 reference

12 December 2020

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

1 reference

12 December 2020

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature

1 reference

12 December 2020

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.155

1 reference

14 August 2017

1 reference

14 August 2017

1 reference