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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

International journal of cardiology, 2017-10, Vol.245, p.92-98

2017

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Cardiovascular malformations in Adams-Oliver syndrome

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1175-1177

2015

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Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1815-1819

2008

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Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

The Journal of pediatrics, 2020-03, Vol.218, p.263-264

2020

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Familial recurrence of congenital heart disease : an overview and review of the literature

European journal of pediatrics, 2007-02, Vol.166 (2), p.111-116

2007

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40

2020

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Costello syndrome: clinical diagnosis in the first year of life

European journal of pediatrics, 2008-06, Vol.167 (6), p.621-628

2008

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2781-2787

2012

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572-581

2015

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PTPN11 gene mutations : linking the Gln510Glu mutation to the LEOPARD syndrome phenotype

European journal of pediatrics, 2006-11, Vol.165 (11), p.803-805

2006

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Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1570-1574

2019

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Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

Pediatric cardiology, 2012-06, Vol.33 (5), p.874-875

2012

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Hypoplastic left heart syndrome and 21q22.3 deletion

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.579-586

2015

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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Circulation. Cardiovascular genetics, 2017-10, Vol.10 (5)

2017

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Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

European journal of medical genetics, 2015-08, Vol.58 (8), p.406-408

2015

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.e68-e68

2004

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

Npj genomic medicine, 2023-07, Vol.8 (1), p.17-15, Article 17

2023

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Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

European journal of medical genetics, 2015-11, Vol.58 (11), p.629-633

2015

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Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2860-2864

2009

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LEOPARD syndrome: Clinical diagnosis in the first year of life

American journal of medical genetics. Part A, 2006-04, Vol.140A (7), p.740-746

2006

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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

European journal of medical genetics, 2013-03, Vol.56 (3), p.144-149

2013

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Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

Heart (British Cardiac Society), 2011-05, Vol.97 (10), p.860-860

2011

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

Pediatric cardiology, 2010-10, Vol.31 (7), p.1111-1113

2010

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Deletion 22q11 and isolated congenital heart disease

International journal of cardiology, 2008-01, Vol.123 (3), p.364-365

2008

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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Cardiovascular malformations in Adams-Oliver syndrome

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

Familial recurrence of congenital heart disease : an overview and review of the literature

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Costello syndrome: clinical diagnosis in the first year of life

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

PTPN11 gene mutations : linking the Gln510Glu mutation to the LEOPARD syndrome phenotype

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

Hypoplastic left heart syndrome and 21q22.3 deletion

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

LEOPARD syndrome: Clinical diagnosis in the first year of life

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

Deletion 22q11 and isolated congenital heart disease

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