Canu G - Search Results

1

Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.

Canu G, De Paolis E, Righino B, Mazzuccato G, De Paolis G, Capoluongo E, De Rosa MC, Urbani A, Gunes AM, Minucci A. Canu G, et al. Mol Biol Rep. 2020 Oct;47(10):8311-8315. doi: 10.1007/s11033-020-05836-2. Epub 2020 Sep 24. Mol Biol Rep. 2020. PMID: 32974842

2

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

Minucci A, Canu G, Gentile L, Cimino V, Giardina B, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: canu g. Clin Biochem. 2013 Jan;46(1-2):170-2. doi: 10.1016/j.clinbiochem.2012.10.007. Epub 2012 Oct 22. Clin Biochem. 2013. PMID: 23099197

3

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G, Minucci A, Zuppi C, Capoluongo E. Canu G, et al. Blood Cells Mol Dis. 2013 Apr;50(4):273-80. doi: 10.1016/j.bcmd.2013.01.003. Epub 2013 Feb 9. Blood Cells Mol Dis. 2013. PMID: 23403257

4

Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.

Minucci A, Ruggiero A, Canu G, Maurizi P, De Bonis M, Concolino P, De Luca D, Capoluongo E. Minucci A, et al. Among authors: canu g. Pediatr Blood Cancer. 2015 Sep;62(9):1680-1. doi: 10.1002/pbc.25500. Epub 2015 Mar 27. Pediatr Blood Cancer. 2015. PMID: 25822733 No abstract available.

5

Red blood cell PK deficiency: An update of PK-LR gene mutation database.

Canu G, De Bonis M, Minucci A, Capoluongo E. Canu G, et al. Blood Cells Mol Dis. 2016 Mar;57:100-9. doi: 10.1016/j.bcmd.2015.12.009. Epub 2016 Jan 12. Blood Cells Mol Dis. 2016. PMID: 26832193 Review.

6

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.

Canu G, Mazzuccato G, Urbani A, Minucci A. Canu G, et al. Hum Genome Var. 2018 Jan 4;5:17057. doi: 10.1038/hgv.2017.57. eCollection 2018. Hum Genome Var. 2018. PMID: 29333274 Free PMC article.

7

Small amplicons high resolution melting analysis (SA-HRMA) allows successful genotyping of acid phosphatase 1 (ACP1) polymorphisms in the Italian population.

Minucci A, Canu G, Gentile L, Zuppi C, Giardina B, Capoluongo E. Minucci A, et al. Among authors: canu g. Clin Chim Acta. 2013 Feb 1;416:86-91. doi: 10.1016/j.cca.2012.11.023. Epub 2012 Nov 29. Clin Chim Acta. 2013. PMID: 23201490

8

Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms?

Minucci A, Canu G, De Bonis M, Delibato E, Capoluongo E. Minucci A, et al. Among authors: canu g. J Sep Sci. 2014 Jun;37(12):1521-3. doi: 10.1002/jssc.201400235. Epub 2014 May 2. J Sep Sci. 2014. PMID: 24687976

9

Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.

Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: canu g. Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30. Clin Chim Acta. 2017. PMID: 28465148

10

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.

Paragliola RM, Lovicu RM, Papi G, Capoluongo E, Minucci A, Canu G, Pontecorvi A, Corsello SM. Paragliola RM, et al. Among authors: canu g. Front Endocrinol (Lausanne). 2018 Jul 19;9:398. doi: 10.3389/fendo.2018.00398. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30072953 Free PMC article.

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