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Mauro Longoni

Explore the profile of Mauro Longoni including associated specialties, affiliations and a list of published articles. Areas
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Articles 28
Citations 566
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Recent Articles
1.
Amendola L, Coffey A, Lowry J, Avecilla J, Malhotra A, Chawla A, et al.
medRxiv . 2024 May; PMID: 38766118
Background: Despite monogenic and polygenic contributions to cardiovascular disease (CVD), genetic testing is not widely adopted, and current tests are limited by the breadth of surveyed conditions and interpretation burden....
2.
Longoni M, Bhasin K, Ward A, Lee D, Nisson M, Bhatt S, et al.
Front Cardiovasc Med . 2023 Nov; 10:1272433. PMID: 37915745
Background: Cardiovascular disease continues to be the leading cause of death globally. Clinical practice guidelines aimed at improving disease management and positively impacting major cardiac adverse events recommend genetic testing...
3.
Petit F, Longoni M, Wells J, Maser R, Bogenschutz E, Dysart M, et al.
Am J Hum Genet . 2023 Sep; 110(10):1787-1803. PMID: 37751738
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized...
4.
Coppola S, Barbieri C, Faillace G, Longoni M
Minerva Chir . 2019 May; 74(5):438-440. PMID: 31062945
No abstract available.
5.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, et al.
PLoS Genet . 2018 Dec; 14(12):e1007822. PMID: 30532227
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo...
6.
Jones K, McNamara E, Longoni M, Miller D, Rohanizadegan M, Newman L, et al.
Am J Med Genet A . 2018 Aug; 176(11):2435-2445. PMID: 30079495
Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features...
7.
Zhu Q, High F, Zhang C, Cerveira E, Russell M, Longoni M, et al.
Proc Natl Acad Sci U S A . 2018 May; 115(20):5247-5252. PMID: 29712845
Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high...
8.
Cheng H, Dharmadhikari A, Varland S, Ma N, Domingo D, Kleyner R, et al.
Am J Hum Genet . 2018 Apr; 102(5):985-994. PMID: 29656860
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving...
9.
Masci E, Faillace G, Longoni M
BMC Res Notes . 2018 Apr; 11(1):239. PMID: 29642951
Objective: Laparoscopic cholecystectomy is the first-choice treatment for symptomatic cholelithiasis. Though generally safe, this procedure is not without complications, with bleeding the most frequent cause of conversion to open cholecystectomy....
10.
Corbellini C, Andreoni B, Ansaloni L, Sgroi G, Martinotti M, Scandroglio I, et al.
Tumori . 2017 Dec; 104(1):51-59. PMID: 29218691
Purpose: Measurement and monitoring of the quality of care using a core set of quality measures are increasing in health service research. Although administrative databases include limited clinical data, they...