Search Results - "Putotto C"

Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome.

Authors: Vignaroli W Mastromoro G Putotto C et al.

Source: Frontiers in pediatrics [Front Pediatr] 2026 Apr 22; Vol. 14, pp. 1768520. Date of Electronic Publication: 2026 Apr 22 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Rational and design of the digital diagnosis of cardiac sounds in paediatric patients (DI_SOUND) study.

Authors: Egidy Assenza G Colombo A Mastromarino V et al.

Source: European heart journal. Digital health [Eur Heart J Digit Health] 2026 Jul 02; Vol. 7 (6), pp. ztag103. Date of Electronic Publication: 2026 Jul 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101778323 Publication Model: eCollection Cited Medium: Internet ISSN: 2634-3916 (Electronic) Linking ISSN: 26343916 NLM ISO Abbreviation: Eur Heart J Digit Health Subsets: PubMed not MEDLINE

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Authors: Lin JR Miller D Luong D et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 20. Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

Authors: Nelson TJ McGinn DE Crowley TB et al.

Source: Clinical genetics [Clin Genet] 2026 May; Vol. 109 (5), pp. 859-868. Date of Electronic Publication: 2025 Dec 08.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Prenatal Alcohol Exposure and Congenital Heart Defects: Retinoic Acid Deficiency as a Potential Mechanism in Dextro-Type Transposition of the Great Arteries.

Authors: Paparella R Putotto C Fiore M et al.

Source: Pathophysiology : the official journal of the International Society for Pathophysiology [Pathophysiology] 2025 Jul 10; Vol. 32 (3). Date of Electronic Publication: 2025 Jul 10.

Publication Type: Comment; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9433813 Publication Model: Electronic Cited Medium: Internet ISSN: 1873-149X (Electronic) Linking ISSN: 09284680 NLM ISO Abbreviation: Pathophysiology Subsets: PubMed not MEDLINE

On atrioventricular canal defects in patients with and without -down syndrome: A further look.

Authors: Pugnaloni F Putotto C Marino B

Source: The Journal of thoracic and cardiovascular surgery [J Thorac Cardiovasc Surg] 2026 Mar; Vol. 171 (3), pp. e65-e66. Date of Electronic Publication: 2025 Oct 21.

Publication Type: Letter

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 0376343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-685X (Electronic) Linking ISSN: 00225223 NLM ISO Abbreviation: J Thorac Cardiovasc Surg Subsets: MEDLINE; In Process

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

Authors: Accinni T Frascarelli M Cordellieri P et al.

Corporate Authors: Accinni T Frascarelli M Cordellieri P et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2025 Mar; Vol. 69 (3), pp. 177-192. Date of Electronic Publication: 2024 Nov 29.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Authors: Cerulli Irelli E Fanella M Chaumette B et al.

Source: Epilepsia [Epilepsia] 2025 Mar; Vol. 66 (3), pp. 859-869. Date of Electronic Publication: 2024 Dec 24.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments.

Authors: Putotto C Versacci P Marino B

Source: Pediatric cardiology [Pediatr Cardiol] 2025 Feb; Vol. 46 (2), pp. 508-509. Date of Electronic Publication: 2024 Sep 06.

Publication Type: Letter

Journal Info: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

Authors: Mastromoro G Traversa A Guadagnolo D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64200. Date of Electronic Publication: 2025 Jul 28.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.

Authors: Spaziani M Carlomagno F Tarantino C et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jul 12; Vol. 109 (8), pp. e1564-e1573.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.

Authors: Putotto C Masci M Magliozzi M et al.

Source: Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2382.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Authors: Goldmuntz E Bassett AS Boot E et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Jun; Vol. 44 (6-7), pp. 804-814. Date of Electronic Publication: 2024 Apr 09.

Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Prevalence and cardiovascular outcomes of left ventricular hypertrabeculation in children.

Authors: Monda E Caiazza M Mauriello A et al.

Source: European journal of preventive cardiology [Eur J Prev Cardiol] 2025 Sep 08; Vol. 32 (12), pp. 1125-1127.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101564430 Publication Model: Print Cited Medium: Internet ISSN: 2047-4881 (Electronic) Linking ISSN: 20474873 NLM ISO Abbreviation: Eur J Prev Cardiol Subsets: MEDLINE; In Process

Assessment of vascular tortuosity in 22q11.2 deletion syndrome using optical coherence tomography angiography.

Authors: Lucchino L Armentano M Visioli G et al.

Source: Photodiagnosis and photodynamic therapy [Photodiagnosis Photodyn Ther] 2025 Jun; Vol. 53, pp. 104598. Date of Electronic Publication: 2025 Apr 18.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101226123 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1597 (Electronic) Linking ISSN: 15721000 NLM ISO Abbreviation: Photodiagnosis Photodyn Ther Subsets: MEDLINE

Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis, compared to a large sample of patients with schizophrenia only and healthy controls.

Authors: Frascarelli M Accinni T Buzzanca A et al.

Source: Journal of neuropsychology [J Neuropsychol] 2023 Sep; Vol. 17 (3), pp. 564-583. Date of Electronic Publication: 2023 May 09.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468753 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1748-6653 (Electronic) Linking ISSN: 17486645 NLM ISO Abbreviation: J Neuropsychol Subsets: MEDLINE

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

Authors: Zhao Y Wang Y Shi L et al.

Corporate Authors: Zhao Y Wang Y Shi L et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2023 Jul 18; Vol. 8 (1), pp. 17. Date of Electronic Publication: 2023 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

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

Authors: Restivo A di Gioia C Marino B et al.

Source: Anatomical record (Hoboken, N.J. : 2007) [Anat Rec (Hoboken)] 2023 Mar; Vol. 306 (3), pp. 502-514. Date of Electronic Publication: 2022 Dec 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101292775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-8494 (Electronic) Linking ISSN: 19328486 NLM ISO Abbreviation: Anat Rec (Hoboken) Subsets: MEDLINE

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

Authors: Blagowidow N Nowakowska B Schindewolf E et al.

Source: Genes [Genes (Basel)] 2023 Jan 06; Vol. 14 (1). Date of Electronic Publication: 2023 Jan 06.

Publication Type: Review; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

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

Authors: Pugnaloni F Onesimo R Blandino R et al.

Source: Genes [Genes (Basel)] 2023 Jan 05; Vol. 14 (1). Date of Electronic Publication: 2023 Jan 05.

Publication Type: Review; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE