Search details
1.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31870554
2.
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.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906221
3.
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
Am J Med Genet A
; 179(8): 1570-1574, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31111652
4.
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome.
J Pediatr
; 218: 263-264, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31843215
5.
Hypoplastic left heart syndrome and 21q22.3 deletion.
Am J Med Genet A
; 167A(3): 579-86, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25663264
6.
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
NPJ Genom Med
; 8(1): 17, 2023 Jul 18.
Article
in English
| MEDLINE | ID: mdl-37463940
7.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Am J Med Genet A
; 158A(11): 2781-7, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23034814
8.
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.
Am J Med Genet A
; 155A(3): 548-54, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21337693
9.
Cardiovascular malformations in Adams-Oliver syndrome.
Am J Med Genet A
; 167A(5): 1175-7, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25885069
10.
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
Am J Med Genet A
; 149A(12): 2860-4, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19890921
11.
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Am J Med Genet A
; 146A(14): 1815-9, 2008 Jul 15.
Article
in English
| MEDLINE | ID: mdl-18553555
12.
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.
Pediatr Cardiol
; 33(5): 874-5, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22391768
13.
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Int J Cardiol
; 245: 92-98, 2017 Oct 15.
Article
in English
| MEDLINE | ID: mdl-28768581
14.
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.
Circ Cardiovasc Genet
; 10(5)2017 Oct.
Article
in English
| MEDLINE | ID: mdl-29025761
15.
Hypoplastic left heart syndrome in patients with Kabuki syndrome.
Pediatr Cardiol
; 31(7): 1111-3, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20725720
16.
Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Eur J Med Genet
; 58(11): 629-33, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26475974
17.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circ Cardiovasc Genet
; 8(4): 572-581, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25963545
18.
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Hum Mutat
; 22(1): 104, 2003 Jul.
Article
in English
| MEDLINE | ID: mdl-12815605
19.
[Transposition of great arteries. Understanding its pathogenesis]. / Trasposizione delle grandi arterie. Qualche spiraglio nell'inquadramento patogenetico.
Ital Heart J Suppl
; 3(2): 154-60, 2002 Feb.
Article
in Italian
| MEDLINE | ID: mdl-11926021
20.
Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba.
Am J Med Genet A
; 146A(2): 254-6, 2008 Jan 15.
Article
in English
| MEDLINE | ID: mdl-18076103