B. Marino

发表

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

O. Gabrielli, M. Digilio, A. Giannotti, 1999, European Journal of Human Genetics.

Bidirectional cavopulmonary shunts: clinical applications as staged or definitive palliation.

B. Marino, C. Marcelletti, A. Corno, 1989, The Annals of thoracic surgery.

Inferior vena cava-pulmonary artery extracardiac conduit. A new form of right heart bypass.

B. Marino, C. Marcelletti, A. Corno, 1990, The Journal of thoracic and cardiovascular surgery.

Total Extracardiac Right Heart Bypass

A. Amodeo, B. Marino, M. Gagliardi, 1992, Circulation.

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

A. Giannotti, B. Dallapiccola, B. Marino, 2003, Clinical genetics.

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.

M. Digilio, B. Marino, R. D. Di Donato, 2008, Developmental disabilities research reviews.

22q11.2 deletion syndrome.

Peter J. Scambler, Lauren A. Bohm, Anne S. Bassett, 2015, Nature reviews. Disease primers.

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

D. Seripa, M. Digilio, B. Dallapiccola, 2003, Journal of medical genetics.

Blocked Atrial Bi/Trigeminy In Utero Evolving in Supraventricular Tachycardia after Birth

B. Marino, G. Piacentini, R. Lucchini, 2012, Case reports in obstetrics and gynecology.

Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome.

B. Marino, R. Calabro', C. Marcelletti, 1990, American journal of diseases of children.

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

M. Digilio, B. Gelb, M. Tartaglia, 2018, Heart failure clinics.

Left Ventricular Noncompaction

B. Marino, L. Botto, 2004 .

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

M. Digilio, B. Dallapiccola, M. Tartaglia, 2020, Birth Defects Research.

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

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, International journal of cardiology.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

M. Digilio, B. Dallapiccola, A. Pizzuti, 2002, American journal of human genetics.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

M. Digilio, B. Gelb, B. Dallapiccola, 2009, Human mutation.

Spiral shapes in heart and shells: when form and function do matter.

A. Amodeo, B. Marino, M. Oliverio, 2012, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Clinical Manifestations of 22q11.2 Deletion Syndrome.

G. Giardino, E. Cirillo, C. Pignata, 2021, Heart failure clinics.

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

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Microdeletion 22q11 and oesophageal atresia

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Journal of medical genetics.

Atrioventricular canal defect in patients with RASopathies

M. Digilio, B. Dallapiccola, M. Tartaglia, 2012, European Journal of Human Genetics.

Genetic dosage compensation in a family with velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome

B. Morrow, M. Digilio, B. Dallapiccola, 2011, American journal of medical genetics. Part A.

Complete Transposition of the Great Arteries: Patterns of Congenital Heart Disease in Familial Precurrence

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Circulation.

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Abnormalities of Situs

B. Marino, P. Guccione, A. Carotti, 2012 .

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

M. Digilio, B. Dallapiccola, B. Marino, 2011 .

Cardiovascular Prevention Heart Failure Hemodynamics-Cardiovascular Interventions High Blood Pressure Ischemic Heart Disease Nuclear Cardiology Pediatric Cardiology Peripheral and Cerebral Vascular Diseases Sports Cardiology Transdisciplinary Cardiology and Mental Health in Cardiology Role of Yoga a

B. Marino, G. Calcagni, 2007 .

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

M. Digilio, B. Dallapiccola, B. Marino, 2007, Journal of cardiovascular medicine.

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

M. Digilio, R. Capolino, B. Marino, 2006, Clinical dysmorphology.

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

M. Digilio, B. Dallapiccola, B. Marino, 2006, European Journal of Pediatrics.

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

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

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

M. Digilio, B. Dallapiccola, R. Capolino, 2012, Cardiology in the Young.

22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

M. Digilio, B. Dallapiccola, B. Marino, 2006, Journal of cardiovascular medicine.

Genotype-Phenotype Correlations in Noonan Syndrome

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

The Heart in Ras-MAPK Pathway Disorders

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

Atrioventricular septal defects with severe left ventricular hypoplasia. Staged palliation.

B. Marino, C. Marcelletti, A. Corno, 1988, The Journal of thoracic and cardiovascular surgery.

Congenital heart defects in Noonan syndrome and RIT1 mutation

M. Digilio, M. Tartaglia, B. Marino, 2016, Genetics in Medicine.

Molecular analysis of PRKAG2, LAMP2, and NKX2‐5 genes in a cohort of 125 patients with accessory atrioventricular connection

Mauro W. Costa, R. Harvey, B. Dallapiccola, 2009, American journal of medical genetics. Part A.

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

M. Digilio, M. Tartaglia, B. Marino, 2021, Genes.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

M. Digilio, B. Dallapiccola, B. Marino, 2020, American journal of medical genetics. Part A.

Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.

M. Digilio, G. Oricchio, B. Marino, 2009, The Journal of thoracic and cardiovascular surgery.

Genetic syndromes and outcome after surgical correction of tetralogy of Fallot.

M. Digilio, G. Oricchio, B. Marino, 2006, The Annals of thoracic surgery.

Congenital heart defects in Kabuki syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, American journal of medical genetics.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

G. Di Salvo, P. Elliott, M. Digilio, 2007, The American journal of cardiology.

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

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

Genetics of Ebstein Anomaly

M. Digilio, B. Dallapiccola, B. Marino, 2014 .

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

M. Digilio, B. Marino, Marta Unolt, 2018, Journal of cardiovascular development and disease.

Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice.

G. Novelli, P. Borgiani, B. Marino, 2009, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

S. Mondillo, B. Marino, S. Sanders, 2009, Cardiology in the Young.

KBG syndrome: Common and uncommon clinical features based on 31 new patients

M. Digilio, B. Dallapiccola, M. Rinelli, 2020, American journal of medical genetics. Part A.

The Embryology of the Interatrial Septum

B. Marino, F. Ventriglia, P. Versacci, 2016 .

Transposition of Great Arteries: New Insights into the Pathogenesis

B. Marino, A. Caiaro, Marta Unolt, 2013, Front. Pediatr..

The heart and shell. Anatomical and genetic similarities.

M. Digilio, B. Dallapiccola, B. Marino, 2011, American heart journal.

Postural anomaly of the head‐neck‐shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, Clinical genetics.

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

J. Opitz, M. Digilio, A. Giannotti, 2003, Birth defects research. Part A, Clinical and molecular teratology.

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

M. Digilio, P. Lapunzina, M. Tartaglia, 2020, Human mutation.

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

M. Digilio, B. Dallapiccola, A. Pizzuti, 2004, Journal of Medical Genetics.

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

E. Zackai, B. Dallapiccola, C. Heike, 2009, American journal of medical genetics. Part A.

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

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

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, European Journal of Pediatrics.

Congenital cardiovascular disease and velo-cardio-facial syndrome

M. Digilio, B. Marino, A. Carotti, 2005 .

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)

B. Dallapiccola, R. Capolino, B. Marino, 2005, Images in paediatric cardiology.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

LEOPARD syndrome: Clinical diagnosis in the first year of life

B. Dallapiccola, G. Limongelli, R. Mingarelli, 2006, American journal of medical genetics. Part A.

Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.

G. Di Salvo, B. Dallapiccola, G. Limongelli, 2008, Journal of prenatal medicine.

Morphology of the atrioventricular valve in asplenia syndrome: A peculiar type of atrioventricular canal defect.

C. Bosman, R. Boldrini, B. Marino, 1996, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Palliation of cardiac malformations associated with right isomerism (asplenia syndrome) in infancy.

B. Marino, C. Marcelletti, R. D. Di Donato, 1987, The Annals of thoracic surgery.

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience.

M. Digilio, B. Dallapiccola, B. Marino, 2018, International journal of cardiology.

Criss-cross heart with discordant atrioventricular connections

B. Marino, A. Reale, R. Calabro', 2006, Pediatric Cardiology.

Ventricular inversion with truncus arteriosus.

B. Marino, A. Soro, L. Ballerini, 1990, Chest.

Echocardiographic and anatomic findings in atrioventricular discordance with ventriculoarterial concordance.

J. F. Keane, S. Colan, J. Mayer, 1988, The American journal of cardiology.

Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Feasibility and Clinical Impact of Live Three‐Dimensional Echocardiography in the Management of Congenital Heart Disease

F. Fedele, S. Caselli, N. Pandian, 2006, Echocardiography.

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

M. Digilio, M. Tartaglia, B. Marino, 2019, Orphanet Journal of Rare Diseases.

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, European Journal of Pediatrics.

Noonan syndrome with cardiac left-sided obstructive lesions

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Human Genetics.

Uhl's disease associated with mitral valve prolapse.

R. Mongiardo, G. Schiavoni, B. Marino, 1982, International journal of cardiology.

Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome.

B. Marino, C. Marcelletti, V. D. Di Ciommo, 1986, The Journal of thoracic and cardiovascular surgery.

Patterns of pulmonary arterial anatomy and blood supply in complex congenital heart disease with pulmonary atresia.

B. Marino, M. Gagliardi, R. Calabro', 1987, The Journal of thoracic and cardiovascular surgery.

Obstruction of right ventricular inflow and outflow in corrected transposition of the great arteries (S,L,L): two-dimensional echocardiographic diagnosis.

S. Colan, B. Marino, S. Sanders, 1986, Journal of the American College of Cardiology.

Transposition of the great arteries associated with deletion of chromosome 22q11.

M. Digilio, B. Dallapiccola, G. Novelli, 1995, The American journal of cardiology.

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature

M. Digilio, B. Marino, A. Secinaro, 2022, American journal of medical genetics. Part A.

Common arterial trunk, DiGeorge syndrome and microdeletion 22q11

M. Digilio, B. Marino, A. Toscano, 2002 .

Atrioventricular septal defects with severe left ventricular hypoplasia—clinical findings and surgical options

B. Marino, C. Marcelletti, U. Vairo, 1992, Cardiology in the Young.

Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo‐cardio‐facial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, American journal of medical genetics. Part A.

Oral propafenone therapy for children with arrhythmias: efficacy and adverse effects in midterm follow-up.

B. Marino, F. Drago, C. Marcelletti, 1991, American heart journal.

Anatomic patterns of conotruncal defects associated with deletion 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

M. Digilio, G. Limongelli, B. Marino, 2022, Children.

"Acquired" subvalvular aortic stenosis after repair of a ventricular septal defect.

B. Marino, C. Marcelletti, A. Corno, 1992, Chest.

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

B. Dallapiccola, R. Capolino, B. Marino, 2005, American journal of medical genetics. Part A.

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

M. Digilio, V. Caputo, L. Bernardini, 2022, European journal of medical genetics.

Morphology of aortic arch obstruction with patent ductus arteriosus.

B. Marino, B. Marino, A. Reale, 1981, Cardiovascular diseases.

Pitfalls in echocardiographic-based repair of aortic coarctation.

B. Marino, L. Pasquini, G. Santoro, 1997, The American journal of cardiology.

Heterotaxia syndromes and 22 qll deletion

M. Digilio, B. Marino, 2022 .

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

E. Zackai, K. Sullivan, A. Bassett, 2018, European journal of medical genetics.

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Influence of heart rate on left ventricular isovolumic relaxation time: a Doppler study in healthy newborns.

B. Marino, R. Lucchini, F. Ventriglia, 2004, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

Deficiency of the infundibular septum in patients with Interrupted aortic arch and del 22q11

M. Digilio, B. Dallapiccola, B. Marino, 2000, Cardiology in the Young.

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

M. Digilio, B. Dallapiccola, V. Guida, 2011, American journal of medical genetics. Part A.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

B. Dallapiccola, A. Pizzuti, D. Gianni, 2003, Human mutation.

Velo-cardio-facial syndrome: Cardiac anomalies and treatment

B. Marino, E. Boccuzzi, A. Carotti, 2012 .

Truncus arteriosus and duplication 8q

A. Giannotti, B. Dallapiccola, B. Marino, 2003, American journal of medical genetics. Part A.

Deletion 8p syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect

M. Digilio, B. Dallapiccola, A. Pizzuti, 2006, American journal of medical genetics. Part A.

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

M. Digilio, B. Dallapiccola, R. Mingarelli, 2010, International journal of cardiology.

A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice.

G. Novelli, F. Amati, B. Marino, 2006, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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

B. Dallapiccola, L. Bernardini, A. Novelli, 2015, European journal of medical genetics.

Hypertrophic cardiomyopathy in a patient with Down's syndrome.

C. Autore, B. Marino, G. Assenza, 2007, Journal of Cardiovascular Medicine.

Pediatrics: Letter to the editor [4] (multiple letters)

M. Digilio, B. Marino, T. Trotter, 2001 .

Ventricular septal defect in Down syndrome. Anatomic types and associated malformations.

B. Marino, R. Calabro', A. Corno, 1990, American journal of diseases of children.

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, International journal of cardiology.

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

M. Digilio, B. Dallapiccola, B. Marino, 2010, Pediatric Cardiology.

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

M. Digilio, B. Dallapiccola, R. Capolino, 2008, American journal of medical genetics. Part A.

Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

M. Digilio, M. D. De Ioris, B. Marino, 2004, Italian heart journal : official journal of the Italian Federation of Cardiology.

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

B. Dallapiccola, G. Limongelli, F. Consoli, 2011, European journal of medical genetics.

Diffuse coronary dilation in a young patient with LEOPARD syndrome.

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, International journal of cardiology.

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

B. Dallapiccola, A. Pizzuti, G. Limongelli, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Indication for systemic-pulmonary artery shunts guided by two-dimensional and Doppler echocardiography: criteria for patient selection.

B. Marino, C. Marcelletti, L. Pasquini, 1987, The Annals of thoracic surgery.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003 .

Inlet ventricular septal defect is not a partial atrioventricular septal defect.

B. Marino, M. Digilio, 1999, American journal of medical genetics.

Better surgical prognosis for patients with Down syndrome.

B. Marino, R. Formigari, Claudia Saffirio, 2008, The Journal of thoracic and cardiovascular surgery.

Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome.

B. Marino, G. Gargiulo, R. Formigari, 2004, The Annals of thoracic surgery.

Complete atrioventricular septal defect in patients with and without Down's syndrome.

B. Marino, 1994, The Annals of thoracic surgery.

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

M. Digilio, B. Dallapiccola, R. Capolino, 2005, American journal of medical genetics. Part A.

Morphology of the Atrioventricular Valve in Patients with Right Atrial Isomerism

B. Marino, P. Francalanci, 1998, Pediatric Cardiology.

Noonan syndrome and aortic coarctation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Pediatric Cardiology.

Pediatric cardiac surgery guided by echocardiography. Established indications and new trends.

B. Marino, C. Marcelletti, L. Pasquini, 1990, Scandinavian journal of thoracic and cardiovascular surgery.

Discrete subaortic stenosis. Surgery in children based on two-dimensional and Doppler echocardiography.

B. Marino, C. Marcelletti, L. Pasquini, 1989, Chest.

Long‐Term Results After Extracardiac Valved Conduits Implanted for Complex Congenital Heart Disease

B. Marino, C. Marcelletti, A. Corno, 1988, Journal of cardiac surgery.

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

V. Caputo, L. Bernardini, B. Marino, 2022, Genes.

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

M. Digilio, B. Dallapiccola, B. Marino, 2011, Heart.

Outcome in Down syndrome fetuses with cardiac anomalies

B. Marino, P. Mastroiacovo, G. Calcagni, 2004, American journal of medical genetics. Part A.

Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of fallot with pulmonary atresia.

B. Marino, R. D. Di Donato, A. Carotti, 2003, The Journal of thoracic and cardiovascular surgery.

Clinical manifestations of Noonan syndrome

B. Marino, M. Digilio, 2001, Images in paediatric cardiology.

Echocardiographic identification of aortic atresia with ventricular septal defect, normal left ventricle and mitral valve.

S. Colan, B. Marino, S. Sanders, 1987, American heart journal.

Primary repair of isolated ventricular septal defect in infancy guided by echocardiography.

B. Marino, C. Marcelletti, L. Pasquini, 1997, The American journal of cardiology.

Echocardiographically guided repair of tetralogy of Fallot.

B. Marino, C. Marcelletti, L. Pasquini, 1994, The American journal of cardiology.

Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, American journal of medical genetics. Part A.

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, British journal of audiology.

Double Outlet Right Ventricle Versus Aortic Dextroposition: Morphologically Distinct Defects

B. Marino, A. Restivo, Marta Unolt, 2013, Anatomical record.

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

A. Baldini, M. Digilio, B. Marino, 2019, bioRxiv.

Echocardiographic diagnosis of totally anomalous pulmonary venous connection to the azygos vein

B. Marino, A. Musolino, L. Pasquini, 1999, Cardiology in the Young.

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome

B. Dallapiccola, B. Marino, M. Digilio, 2008, American journal of medical genetics. Part A.

Airway obstructions associated with congenital heart disease in infancy.

B. Marino, J. Kirklin, C. Marcelletti, 1990, The Journal of thoracic and cardiovascular surgery.

Simultaneous patency of ductus arteriosus and surgical shunt in pulmonary atresia with intact ventricular septum. A cause of acute myocardial failure?

B. Marino, C. Marcelletti, A. Corno, 1986, Scandinavian journal of thoracic and cardiovascular surgery.

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

M. Digilio, C. Leoni, G. Zampino, 2023, Genes.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

M. Digilio, B. Dallapiccola, V. Guida, 2013, American journal of medical genetics. Part A.

Concordant familial segregation of atrial septal defect and Axenfeld–Rieger anomaly in father and son

M. Digilio, B. Dallapiccola, R. Capolino, 2006, Clinical dysmorphology.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

E. Zackai, M. Digilio, J. Gaynor, 2018, American journal of medical genetics. Part A.

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

A. Baldini, M. Digilio, M. Tartaglia, 2017, Expert review of molecular diagnostics.

Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart.

B. Marino, A. Restivo, G. Piacentini, 2006, The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology.

Anomalous origin of the right pulmonary artery from the ascending aorta: repair without cardiopulmonary bypass.

B. Marino, C. Marcelletti, R. D. Di Donato, 1989, International journal of cardiology.

Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects

M. Digilio, B. Dallapiccola, B. Marino, 2005, American journal of medical genetics. Part A.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

G. Klingberg, K. Sullivan, S. Eliez, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

A. Bassett, B. Marino, E. Boot, 2023, Genes.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome

M. Digilio, B. Dallapiccola, R. Capolino, 2016, American journal of medical genetics. Part A.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

M. Digilio, B. Dallapiccola, A. Bruselles, 2018, Clinical genetics.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Monia Magliozzi, Bruno Dallapiccola, Alessandro De Luca, 2013, European journal of medical genetics.

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

M. Digilio, B. Dallapiccola, E. Conti, 2007 .

Ellis‐van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

M. Digilio, A. Giannotti, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

Congenital heart defects in molecularly confirmed KBG syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2021, American journal of medical genetics. Part A.

Costello syndrome: clinical diagnosis in the first year of life

M. Digilio, B. Dallapiccola, R. Capolino, 2008, European Journal of Pediatrics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

16p subtelomeric duplication: a clinically recognizable syndrome

M. Digilio, B. Dallapiccola, L. Bernardini, 2009, European Journal of Human Genetics.

Genetic syndromes and congenital heart defects: how is surgical management affected?

M. Digilio, A. Giardini, B. Marino, 2009, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Familial aplasia cutis congenita and coarctation of the aorta.

A. Giannotti, B. Dallapiccola, B. Marino, 1992, American journal of medical genetics.

Cardiovascular disease in Down syndrome

M. Digilio, B. Marino, P. Versacci, 2018, Current opinion in pediatrics.

Echocardiographic evaluation of left ventricular systolic function in the Down syndrome.

B. Marino, P. Calabrò, M. Russo, 1998, The American journal of cardiology.

Pulmonary circulation in pulmonary atresia associated with the asplenia cardiac syndrome.

J. Moller, B. Marino, J. Edwards, 1992, Journal of the American College of Cardiology.

What Is New in Genetics of Congenital Heart Defects?

M. Digilio, B. Marino, 2016, Front. Pediatr..

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Teratology.

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1997, Human molecular genetics.

Familial transposition of the great arteries caused by multiple mutations in laterality genes

M. Digilio, B. Dallapiccola, V. Guida, 2009, Heart.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Alexander F. Schier, Rebecca D. Burdine, Jeffrey A. Towbin, 2000, Nature Genetics.

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

M. Digilio, B. Dallapiccola, B. Marino, 2012, Pediatric Cardiology.

Clinical features and follow-up in patients with 22q11.2 deletion syndrome.

E. Cirillo, R. Consolini, A. Plebani, 2014, The Journal of pediatrics.

Chromosome 22q11 microdeletion and isolated conotruncal heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Archives of disease in childhood.

COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS

C. Agrati, E. Cimini, B. Marino, 2022, The Journal of Allergy and Clinical Immunology: In Practice.

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

B. Dallapiccola, B. Marino, U. Sauer, 2005, American journal of medical genetics. Part A.

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature

M. Digilio, C. Leoni, G. Zampino, 2021, American journal of medical genetics. Part A.

Prevalence of bilateral patent ductus arteriosus in patients with pulmonic valve atresia and asplenia syndrome.

B. Marino, R. Formigari, G. Santoro, 1992, The American journal of cardiology.

Genetics of atrioventricular canal defects

M. Digilio, B. Marino, Enrica de Luca, 2020, Italian Journal of Pediatrics.

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

M. Digilio, M. Tartaglia, S. Giustini, 2019, Genes.

Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536

M. Digilio, B. Dallapiccola, B. Marino, 2006, Genetics in Medicine.

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, The American journal of cardiology.

Total anomalous pulmonary venous connection: surgical repair with a double-patch technique.

B. Marino, C. Marcelletti, A. Corno, 1990, The Annals of thoracic surgery.

Cardiac catheterization through the internal jugular vein in pediatric patients. An alternative to the usual femoral vein access.

B. Marino, M. Gagliardi, P. Guccione, 1992, Chest.

Heterotaxy with left atrial isomerism in a patient with deletion 18p.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, American journal of medical genetics.

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Pediatric Cardiology.

Early congestive heart failure due to origin of the right coronary artery from the pulmonary artery.

B. Marino, C. Marcelletti, U. Vairo, 1992, Chest.

Leftward Displacement of Septum Primum in Children With Congenital Heart Disease

B. Marino, L. Silvestri, A. Scarabotti, 2013, Pediatric Cardiology.

Heterotaxia syndromes and 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

Spontaneous closure of ventricular septal defect in a case of double outlet right ventricle.

B. Marino, F. Loperfido, C. Sardi, 1983, British heart journal.

Partial atrioventricular canal with congestive heart failure in the first year of life: surgical options.

B. Marino, C. Marcelletti, R. Formigari, 1996, The Annals of thoracic surgery.

Partial atrioventricular septal defect in infancy: don’t we need to know more?

B. Marino, D. Di Carlo, Carolina Putuotto, 2018, Heart.

Age at Operation for Children With Atrioventricular Canal

B. Marino, R. D. Di Donato, S. Anaclerio, 2001, Pediatrics.

Patient selection for repair of complete atrioventricular canal guided by echocardiography.

B. Marino, D. Di Carlo, 1995, Journal of the American College of Cardiology.

Valve insufficiency after atrioventricular septal defect repair: differences between patients with and without Down's syndrome?

B. Marino, 1990, The Annals of thoracic surgery.

[Surgical correction of atrioventricular canal without heart catheterization].

B. Marino, C. Marcelletti, L. Pasquini, 1990, Giornale italiano di cardiologia.

Combined repair of transposed great arteries and total anomalous pulmonary venous connection.

A. Amodeo, B. Marino, C. Marcelletti, 1990, The Annals of thoracic surgery.

Tricuspid valve avulsion or excision for right ventricular decompression in pulmonary atresia with intact ventricular septum.

B. Marino, C. Marcelletti, S. Giannico, 1989, The Journal of thoracic and cardiovascular surgery.

Complete transposition of the great arteries: visualization of left and right outflow tract obstruction by oblique subcostal two-dimensional echocardiography.

R. Boldrini, G. de Simone, B. Marino, 1985, The American journal of cardiology.

"New" projection in pediatric two-dimensional echocardiography.

B. Marino, S. Sanders, 1986, The American journal of cardiology.

Anatomical-echocardiographic correlations in pulmonary atresia with intact ventricular septum. Use of subcostal cross-sectional views.

G. Thiene, B. Marino, C. Marcelletti, 1986, International journal of cardiology.

Pulmonary atresia with intact ventricular septum and systemic-pulmonary collateral arteries.

B. Marino, R. D. Di Donato, A. Toscano, 2002, The Annals of thoracic surgery.

Morphology of ductus arteriosus and of the pulmonary arteries in patients with pulmonary atresia and complex congenital heart disease.

B. Marino, C. Marcelletti, U. Vairo, 1990, Chest.

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

B. Dallapiccola, R. Capolino, E. Conti, 2005, American journal of medical genetics. Part A.

Balloon occlusion of the ascending aorta for angiographic visualization of the coronary arteries in neonates with transposition of the great arteries.

B. Marino, L. Pasquini, R. D. Di Donato, 1991, American heart journal.

Atrioventricular septal defect—anatomic characteristics in patients with and without Down's syndrome

B. Marino, 1992, Cardiology in the Young.

Complete atrioventricular septal defects and Down syndrome.

B. Marino, D. Di Carlo, 1997, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Letter to the Editor Complete atrioventricular septal defects and Down syndrome

B. Marino, D. D. Carlo, 1997 .

Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects

B. Marino, C. D. di Gioia, A. Restivo, 2022, Anatomical record.

Familial recurrence of discrete membranous subaortic stenosis.

M. Digilio, B. Marino, G. Piacentini, 2007, The Journal of thoracic and cardiovascular surgery.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

T. Mazza, M. Digilio, B. Dallapiccola, 2018, Human mutation.

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

The mendelian basis of congenital heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Cardiology in the Young.

recessive syndrome . syndrome : delineation of an autosomal Conotruncal heart defect / microphthalmia

M. Digilio, A. Giannotti, B. Dallapiccola, 2004 .

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, Teratology.

Deletion 22q11 and isolated congenital heart disease.

M. Digilio, B. Dallapiccola, B. Marino, 2008, International journal of cardiology.

Familial Recurrence Risks of Congenital Heart Defects

M. Digilio, B. Dallapiccola, R. Capolino, 2007 .

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, European Journal of Human Genetics.

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Familial recurrence of transposition of the great arteries and intact ventricular septum.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Ventricular septal defect and Down's syndrome

B. Marino, C. Marcelletti, A. Corno, 1991, The Lancet.

Familial recurrence of transposition of the great arteries

M. Digilio, B. Dallapiccola, B. Marino, 1998, The Lancet.

Surgical Outcomes for Patients with Turner Syndrome

B. Marino, P. Versacci, L. Silvestri, 2014, Pediatric Cardiology.

Cardiopulmonary response to exercise and cardiac assessment in patients with turner syndrome.

A. Pasquino, B. Marino, M. Cappa, 2011, The American journal of cardiology.

Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, American journal of medical genetics.

Criss-cross heart with d-ventricular loop.

B. Marino, F. Mileto, 2002, Circulation.

Two-dimensional echocardiographic anatomy in crisscross heart.

S. Colan, B. Marino, S. Sanders, 1986, The American journal of cardiology.

Hypoplastic left heart syndrome and 21q22.3 deletion

B. Dallapiccola, R. Capolino, B. Marino, 2015, American journal of medical genetics. Part A.

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

Familial deletions of chromosome 22q11.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

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

M. Digilio, B. Dallapiccola, L. Bernardini, 2013, European journal of medical genetics.

Palliative Mustard operation: an expanded horizon.

B. Marino, C. Marcelletti, A. Corno, 1987, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

A. Giannotti, B. Dallapiccola, B. Marino, 1989, Annales de genetique.

Single ventricle: amphibians and human beings

B. Marino, A. Corno, P. Angelini, 2022, World Journal of Pediatrics.

Aortopulmonary window coexisting with tetralogy of Fallot.

B. Marino, R. D. Di Donato, P. Guccione, 2001, The Journal of cardiovascular surgery.

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, American journal of medical genetics.

Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

M. Digilio, B. Dallapiccola, V. Guida, 2010, Disease markers.

Impact of genetic studies on comprehension and treatment of congenital heart disease

M. Digilio, B. Marino, Marta Unolt, 2018, Progress in Pediatric Cardiology.

[Hypothermia treatment of junctional ectopic tachycardia after surgical repair of congenital heart defects].

B. Marino, C. Marcelletti, L. Pasquini, 1990, Giornale italiano di cardiologia.

Complex congenital heart disease after in vitro fertilization.

B. Marino, C. Marcelletti, 1989, American journal of diseases of children.

Atrioventricular canal and 8p- syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of medical genetics.

Univentricular atrioventricular connection to a dominant left ventricle with a concordant ventriculo-arterial connection.

B. Marino, L. Pasquini, D. Di Carlo, 1989, International journal of cardiology.

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

S. Bianca, M. Digilio, F. Brancati, 2021, Clinical genetics.

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Digilio, B. Dallapiccola, R. Capolino, 2017, American journal of medical genetics. Part A.

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

M. Copetti, M. Digilio, B. Dallapiccola, 2012, European Journal of Human Genetics.

Congenital diaphragmatic hernia after exposure to a triple retinoic acid antagonist during pregnancy

B. Marino, R. Businaro, D. Cipollone, 2017, Journal of cardiovascular medicine.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Surgery for Complex forms of Atrioventricular Septal Defect: Early Survival and Probability of Cure

B. Marino, P. Versacci, Carolina Putotto, 2018 .

Search for 22q11 deletion in non-syndromic conotruncal cardiac defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, European Journal of Pediatrics.

The Heart of Santa Rosa

B. Marino, L. Capasso, G. Silvestro, 2010, The Lancet.

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, Journal of Medical Genetics.

Risk of congenital heart defects in relatives of patients with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of diseases of children.

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Human Genetics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

Isolated cleft of the mitral valve: its pathogenic relationship with endocardial cushion defects.

B. Marino, E. Boccuzzi, P. Versacci, 2010, Texas Heart Institute journal.

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, American journal of medical genetics.

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Familial recurrence of anomalous origin of right pulmonary artery from the aorta

G. Limongelli, B. Marino, P. Vergara, 2006, American journal of medical genetics. Part A.

Pulmonary atresia with ventricular septal defect. Selection of patients for systemic-to-pulmonary artery shunt based on echocardiography.

B. Marino, C. Marcelletti, L. Pasquini, 1991, Chest.

Severe truncal valve dysplasia: association with DiGeorge syndrome?

M. Digilio, B. Dallapiccola, B. Marino, 1998, The Annals of thoracic surgery.

22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

A. Baldini, M. Digilio, B. Marino, 2011 .

Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11.

M. Digilio, B. Marino, F. Mileto, 2003, Annals of Thoracic Surgery.

Right oblique subxiphoid view for two-dimensional echocardiographic visualization of the right ventricle in congenital heart disease.

B. Marino, C. Marcelletti, L. Pasquini, 1984, The American journal of cardiology.

Reliability of echocardiography for the evaluation of VSD anatomy in tetralogy of Fallot.

B. Marino, G. Santoro, 1994, International journal of cardiology.

Diagnosis of right ventricular outflow obstruction in infants by cross sectional echocardiography.

B. Marino, C. Marcelletti, L. Ballerini, 1984, British heart journal.

Maternal diabetes causing DiGeorge anomaly and renal agenesis.

M. Digilio, A. Giannotti, B. Marino, 1995, American journal of medical genetics.

Conotruncal heart defects and chromosome 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, The Journal of pediatrics.

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

M. Digilio, V. Guida, B. Marino, 2019, The Journal of pediatrics.

[Anomalous insertion of the mitral valve. A rare form of subaortic obstruction in children].

B. Marino, M. Gagliardi, C. Marcelletti, 1992, Cardiologia.

A case of isolated atrioventricular discordance.

B. Marino, F. Marsico, R. Calabrò, 1982, British heart journal.

Combined mustard and Rastelli operations. An alternative approach for repair of associated anomalies in congenitally corrected transposition in situs inversus [I,D,D].

B. Marino, C. Marcelletti, R. D. Di Donato, 1992, The Journal of thoracic and cardiovascular surgery.

Challenges of classifying double outlet right ventricle: Importance for genotype–phenotype analyses

B. Marino, L. Silvestri, A. Scarabotti, 2014, American Journal of Medical Genetics. Part A.

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

M. Digilio, B. Dallapiccola, B. Marino, 2010, American journal of medical genetics. Part A.

Re: right isomerism, pulmonary atresia, and major aorto-pulmonary collateral arteries.

B. Marino, G. Piacentini, S. Placidi, 2006, Cardiology in the young.

Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

G. Chillemi, A. Desideri, G. Novelli, 2010, BMC Genomics.

Spiral pattern: universe, normal heart, and complex congenital defects.

Antonio F Corno, B. Marino, A. Corno, 2003, The Journal of thoracic and cardiovascular surgery.

Transposition of the great arteries in asplenia and polysplenia phenotypes.

M. Digilio, R. Capolino, B. Marino, 2002, American journal of medical genetics.

Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene

M. Digilio, A. Novelli, B. Marino, 2022, Cardiology in the Young.

Types of cardiac defects in children with Down's syndrome

M. Digilio, B. Marino, S. Placidi, 2006, Cardiology in the Young.

Surgical bypass of the systemic atrioventricular valve in children by means of a valved conduit.

B. Marino, C. Marcelletti, A. Corno, 1988, The Journal of thoracic and cardiovascular surgery.

Pulmonary arteriovenous fistulas and polysplenia syndrome.

A. Amodeo, B. Marino, C. Marcelletti, 1994, The Journal of thoracic and cardiovascular surgery.

GATA4 as candidate gene for pericardial defects.

M. Digilio, B. Marino, Claudia Saffirio, 2007, The Annals of thoracic surgery.

Social Cognition impairments in 22q11.2DS individuals with and without psychosis: A comparison study with a large population of patients with schizophrenia

L. Carlone, P. Bucci, B. Marino, 2021, Schizophrenia Bulletin Open.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

M. Digilio, B. Dallapiccola, M. Tartaglia, 2017, Data in brief.

Turner's syndrome with atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1991, Pediatric Cardiology.

Radial aplasia and chromosome 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001 .

Double-outlet left ventricle: two-dimensional echocardiographic diagnosis.

B. Marino, M. Bevilacqua, 1992, American heart journal.

Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 1996 .

The evaluation of left and right ventricular hypertrophy in combined ventricular overload by electrocardiography: relationship with the echocardiographic data.

B. Marino, F. Bellocci, F. Loperfido, 1982, Journal of electrocardiology.

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, European Journal of Pediatrics.

Balloon occlusion of the carotid artery for the angiographic visualization of Blalock-Taussig shunts and pulmonary arteries.

B. Marino, L. Pasquini, A. Corno, 1988, Chest.

Truncus Arteriosus with Unilateral Absence of the Left Proximal Pulmonary Artery and DiGeorge Syndrome

B. Marino, E. Boccuzzi, P. Versacci, 2011, Journal of cardiac surgery.

Surgical results in patients with cardiac defects and del 22q11.2 syndrome.

B. Marino, G. Michielon, A. Carotti, 2011, The American journal of cardiology.

Deletion 22q11 in patients with interrupted aortic arch.

B. Marino, M. Digilio, A. Giannotti, 1999, The American journal of cardiology.

Patient selection for repair of complete atrioventricular canal guided by echocardiography.

B. Marino, C. Marcelletti, L. Pasquini, 1995, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Atrioventricular canal with Down syndrome or normal chromosomes: distinct prognosis with surgical management?

B. Marino, D. D. Carlo, 1994, The Journal of thoracic and cardiovascular surgery.

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.

B. Marino, M. Digilio, A. Giannotti, 1999, The Journal of pediatrics.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Cardiovascular malformations in Adams–Oliver syndrome

B. Dallapiccola, B. Marino, M. Digilio, 2015, American journal of medical genetics. Part A.

Health Supervision for Children With Down Syndrome

M. Digilio, B. Marino, R. D. Di Donato, 1994, Pediatrics.

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.

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