Bruno Marino Taussig De Bodonia

Pubblicazioni

Titolo Pubblicato in Anno
Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome ANNALS OF HUMAN GENETICS 2021
Cardiac defects and genetic syndromes: old uncertainties and new insights GENES 2021
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2021
Anatomical substrate for biventricular repair in patients with left isomerism ANNALS OF PEDIATRIC CARDIOLOGY 2021
Congenital heart defects in molecularly confirmed KBG syndrome patients AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2021
Commentary: sVEGFR1 Is Enriched in Hepatic Vein Blood—Evidence for a Provisional Hepatic Factor Candidate? FRONTIERS IN PEDIATRICS 2021
KBG syndrome: common and uncommon clinical features based on 31 new patients AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2020
Genetics of atrioventricular canal defects THE ITALIAN JOURNAL OF PEDIATRICS 2020
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study BIRTH DEFECTS RESEARCH 2020
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 HUMAN MUTATION 2020
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
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion MOLECULAR PSYCHIATRY 2020
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 HUMAN MUTATION 2020
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog CLINICAL GENETICS 2019
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice. PLOS ONE 2019
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease GENES 2019
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 2019
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
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations ORPHANET JOURNAL OF RARE DISEASES 2019

Progetti di Ricerca

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