Identification of de novo mutations and rare variants in hypoplastic left heart syndrome (Q24298680)

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27 January 2020

title

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

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27 January 2020

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Forkhead box L1

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Forkhead box C2

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heart development

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hypoplastic left heart syndrome

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8

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27 January 2020

Lorenzo Boni

10

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27 January 2020

Orsetta Zuffardi

15

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author name string

M Iascone

1

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27 January 2020

R Ciccone

2

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27 January 2020

L Galletti

3

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27 January 2020

D Marchetti

4

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27 January 2020

F Seddio

5

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27 January 2020

A R Lincesso

6

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L Pezzoli

7

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D Barachetti

9

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D Federici

11

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A M Soto

12

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J V Comas

13

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P Ferrazzi

14

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language of work or name

English

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publication date

25 April 2011

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27 January 2020

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27 January 2020

volume

81

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27 January 2020

issue

6

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page(s)

542-554

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The nomenclature, definition and classification of hypoplastic left heart syndrome

27 January 2020

cites work

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

Hypoplastic left heart syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Mutations in NOTCH1 cause aortic valve disease

21 January 2018

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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

21 January 2018

1 reference

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A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

21 January 2018

1 reference

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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

21 January 2018

1 reference

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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

21 January 2018

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

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A de novo paradigm for mental retardation.

21 January 2018

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BMP signaling is required for septation of the outflow tract of the mammalian heart

21 January 2018

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OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways

21 January 2018

1 reference

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

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Neurodevelopment in children with hypoplastic left heart syndrome.

21 January 2018

1 reference

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

A functional genetic study identifies HAND1 mutations in septation defects of the human heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

Investigation of somatic NKX2-5 mutations in congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

Heart valve development: endothelial cell signaling and differentiation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.

21 January 2018

1 reference

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

21 January 2018

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

1 reference

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NKX2.5mutations in patients with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

7 January 2021

Hypoplastic left heart syndrome: new genetic insights

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

7 January 2021

Hypoplastic left heart syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

7 January 2021

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01674.X

7 January 2021

Recurrence of Congenital Heart Defects in Families

1 reference

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7 January 2021

10.1111/J.1399-0004.2011.01674.X

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

4330638

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27 January 2020

4330638

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4330638