Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect-Reference-Cited by-同舟云学术

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Published:2018-07-30 Issue:10 Volume:39 Page:1428-1441
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ferese Rosangela¹,Bonetti Monica²,Consoli Federica³,Guida Valentina³,Sarkozy Anna³,Lepri Francesca Romana⁴,Versacci Paolo⁵,Gambardella Stefano¹,Calcagni Giulio⁴,Margiotti Katia³,Piceci Sparascio Francesca³,Hozhabri Hossein³⁶,Mazza Tommaso⁷,Digilio Maria Cristina⁴,Dallapiccola Bruno⁴,Tartaglia Marco⁴,Marino Bruno⁵,Hertog Jeroen den²⁸,De Luca Alessandro³^ORCID

Affiliation:

1. IRCCS Neuromed; Localita` Camerelle; 86077 Pozzilli Italy

2. Hubrecht Institute-KNAW and University Medical Center Utrecht; 3584CT Utrecht The Netherlands

3. Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy

4. Genetics and Rare Diseases Research Division; Bambino Gesù Children Hospital; IRCCS; 00146 Rome Italy

5. Division of Pediatric Cardiology; Department of Pediatrics; “Sapienza” University; 00161 Rome Italy

6. Department of Experimental Medicine; Sapienza University of Rome; 00161 Rome Italy

7. Bioinformatics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy

8. Institute of Biology; 2300RC Leiden The Netherlands

Funder

Fondazione Bambino Gesù

Italian Ministry of Health

Research Council for Earth and Life Sciences with financial aid from the Netherlands Organisation for Scientific Research (NWO)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23593/fullpdf

Reference69 articles.

1. Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia;Abdul-Sater;PLoS One,2012

2. Rare variants in NR2F2 cause congenital heart defects in humans;Al Turki;American Journal of Human Genetics,2014

3. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot;Amati;Human Genetics,1995

4. Of mice and men: Molecular genetics of congenital heart disease;Andersen;Cellular and Molecular Life Sciences,2014

5. CRELD1 gene variants and atrioventricular septal defects in Down syndrome;Asim;Gene,2018

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