(Q34463389)

2 August 2017

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title

Genetic counseling for congenital heart disease: new approaches for a new decade (English)

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2 August 2017

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congenital heart disease

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2

Elizabeth Goldmuntz

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2 August 2017

Katy Hoess

1

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PubMed ID

11743925

2 August 2017

Reed E Pyeritz

series ordinal

3

1 reference

2 August 2017

1 January 2002

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Current cardiology reports

2 August 2017

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2 August 2017

4

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2 August 2017

1

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2 August 2017

68-75

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https://scigraph.springernature.com/pub.10.1007/s11886-002-0129-y

2 August 2017

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cites work

Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11886-002-0129-Y

The evolution of specific genetic and environmental counseling in congenital heart diseases

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11886-002-0129-Y

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

21 January 2018

1 reference

12 December 2020

Holt-Oram syndrome: a clinical genetic study

1 reference

12 December 2020

Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome

1 reference

12 December 2020

Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study

1 reference

12 December 2020

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

1 reference

12 December 2020

Clinical analysis of families with heart, midline, and laterality defects

1 reference

12 December 2020

Revised diagnostic criteria for the Marfan syndrome

1 reference

12 December 2020

Familial supravalvular aortic stenosis. Report of a large family and review of the literature

1 reference

12 December 2020

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

1 reference

12 December 2020

Conserved and divergent mechanisms in left-right axis formation

1 reference

12 December 2020

Assessment of genetic risk in congenital heart disease

1 reference

12 December 2020

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

12 December 2020

A prospective longitudinal evaluation of pregnancy in the Marfan syndrome

1 reference

12 December 2020

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

1 reference

12 December 2020

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome

1 reference

12 December 2020

The mutation spectrum in Holt-Oram syndrome

1 reference

12 December 2020

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

1 reference

12 December 2020

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

12 December 2020

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

1 reference

12 December 2020

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

1 reference

12 December 2020

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

1 reference

12 December 2020

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

1 reference

12 December 2020

Congenital heart disease caused by mutations in the transcription factor NKX2-5

1 reference

12 December 2020

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

12 December 2020

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

1 reference

12 December 2020

The Sequence of the Human Genome

1 reference

12 December 2020

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1 reference

12 December 2020

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

1 reference

12 December 2020

X-linked situs abnormalities result from mutations in ZIC3

1 reference

12 December 2020

A second-generation study of 427 probands with congenital heart defects and their 837 children

1 reference

12 December 2020

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

1 reference

12 December 2020

Replacement of the aortic root in patients with Marfan's syndrome

1 reference

12 December 2020

Genetics and congenital heart disease: perspectives and prospects

1 reference

12 December 2020

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

12 December 2020

Elastin: mutational spectrum in supravalvular aortic stenosis.

1 reference

12 December 2020

Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the

1 reference

12 December 2020

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

10.1007/S11886-002-0129-Y

Identifiers

DOI

1 reference

PubMed ID

11743925

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

11743925