Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome (Q58193351)

medical journal article

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English	Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome	medical journal article

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instance of

scholarly article

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title

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome (English)

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hypoplastic left heart syndrome

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4

Bruno Dallapiccola

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author name string

M. Cristina Digilio

series ordinal

1

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Anwar Baban

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2

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Bruno Marino

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3

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publication date

20 August 2010

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published in

Pediatric Cardiology

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volume

31

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issue

7

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page(s)

1111-1113

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exact match

https://scigraph.springernature.com/pub.10.1007/s00246-010-9773-y

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cites work

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00246-010-9773-Y

retrieved

21 January 2018

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 11q terminal deletion disorder: a prospective study of 110 cases.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoplastic left heart syndrome in patients with Kabuki syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant inheritance of left ventricular outflow tract obstruction

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A small and active ring X chromosome in a female with features of Kabuki syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart defects in Kabuki syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NKX2.5mutations in patients with congenital heart disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The developmental complex of "parachute mitral valve," supravalvular ring of left atrium, subaortic stenosis, and coarctation of aorta.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20725720

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00246-010-9773-Y

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PubMed ID

20725720

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome (Q58193351)

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome (Q58193351)

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