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VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.
Carli D, Garagnani L, Lando M, Fairplay T, Bernasconi S, Landi A, Percesepe A. Carli D, et al. Among authors: percesepe a. J Pediatr. 2014 Mar;164(3):458-62.e1-2. doi: 10.1016/j.jpeds.2013.09.033. Epub 2013 Nov 7. J Pediatr. 2014. PMID: 24210691
Reverse phenotyping comes of age.
Uliana V, Percesepe A. Uliana V, et al. Among authors: percesepe a. Mol Genet Metab. 2016 Aug;118(4):230-1. doi: 10.1016/j.ymgme.2016.05.010. Epub 2016 May 14. Mol Genet Metab. 2016. PMID: 27211610 No abstract available.
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I, Chiesi L, Tenedini E, Artuso L, Percesepe A, Artusi V, Simone ML, Manfredini R, Camparini M, Rinaldi C, Ciardella A, Graziano C, Balducci N, Tranchina A, Cavallini GM, Pietrangelo A, Marigo V, Tagliafico E. Bernardis I, et al. Among authors: percesepe a. Biomed Res Int. 2016;2016:6341870. doi: 10.1155/2016/6341870. Epub 2016 Dec 29. Biomed Res Int. 2016. PMID: 28127548 Free PMC article.
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Bonatti F, Adorni A, Matichecchia A, Mozzoni P, Uliana V, Pisani F, Garavelli L, Graziano C, Gnoli M, Carli D, Bigoni S, Boschi E, Martorana D, Percesepe A. Bonatti F, et al. Among authors: percesepe a. Int J Mol Sci. 2017 Sep 29;18(10):2071. doi: 10.3390/ijms18102071. Int J Mol Sci. 2017. PMID: 28961165 Free PMC article.
130 results