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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.
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Innella G, Rossi C, Romagnoli M, Repaci A, Bianchi D, Cantarini ME, Martorana D, Godino L, Pession A, Percesepe A, Pagotto U, Turchetti D. Innella G, et al. Among authors: percesepe a. Cancers (Basel). 2020 Nov 5;12(11):3268. doi: 10.3390/cancers12113268. Cancers (Basel). 2020. PMID: 33167350 Free PMC article.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: percesepe a. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group. Vitale G, et al. Among authors: percesepe a. Eur J Paediatr Neurol. 2019 May;23(3):410-417. doi: 10.1016/j.ejpn.2019.02.006. Epub 2019 Feb 22. Eur J Paediatr Neurol. 2019. PMID: 30837194
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
130 results