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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 3
2014 3
2015 2
2016 1
2017 2
2018 1
2019 1
2020 7
2021 3
2022 6
2023 6
2024 2

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33 results

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Page 1
Reply: Hypertrophic Cardiomyopathy as Congenital Heart Disease.
Zyrianov A, Spirito P, Ferrazzi P, Pezzoli L, Iascone M. Zyrianov A, et al. Among authors: pezzoli l. J Am Coll Cardiol. 2021 Mar 16;77(10):1378-1379. doi: 10.1016/j.jacc.2020.12.045. J Am Coll Cardiol. 2021. PMID: 33706885 Free article. No abstract available.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A, Pezzani L, Alfei E, Scatigno A, Cereda A, Marzaroli M, Guuva C, Gabbiadini S, Pezzoli L, Marchetti D, Spaccini L, Iascone M. Moroni A, et al. Among authors: pezzoli l. Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11. Am J Med Genet A. 2023. PMID: 36772973
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: pezzoli l. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
A Child With Ichthyosis and Liver Failure.
Indolfi G, Iascone M, Remaschi G, Donati MA, Nesti C, Rubegni A, Pezzoli L, Buccoliero AM, Santorelli FM, Resti M. Indolfi G, et al. Among authors: pezzoli l. J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e70-e73. doi: 10.1097/MPG.0000000000001645. J Pediatr Gastroenterol Nutr. 2017. PMID: 28562522 No abstract available.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: pezzoli l. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. Among authors: pezzoli l. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. Aleo S, et al. Among authors: pezzoli l. Mol Syndromol. 2023 Jan;13(6):543-550. doi: 10.1159/000524844. Epub 2022 Jun 7. Mol Syndromol. 2023. PMID: 36660030 Free PMC article.
33 results