Savino M - Search Results

1

Unusual combination of Shwachman-Diamond syndrome and porphyria.

Spirito A, Manca E, Guida CC, Maggio A, Savino M, Aucella F, Pettoello-Mantovani M, Ladogana S. Spirito A, et al. Among authors: savino m. Minerva Pediatr (Torino). 2022 Jun;74(3):376-378. doi: 10.23736/S2724-5276.19.05560-9. Epub 2019 Oct 11. Minerva Pediatr (Torino). 2022. PMID: 31621276 No abstract available.

2

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Savino M, Garrubba M, Zelante L, Aucella F, Guida CC, Santini SA. Savino M, et al. Hum Genet. 2010 Apr;127(4):474. Hum Genet. 2010. PMID: 21488236 No abstract available.

3

Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study.

Valle G, Guida CC, Nasuto M, Totaro M, Aucella F, Frusciante V, Di Mauro L, Potenza A, Savino M, Stanislao M, Popolizio T, Guglielmi G, Giagulli VA, Guastamacchia E, Triggiani V. Valle G, et al. Among authors: savino m. Endocr Metab Immune Disord Drug Targets. 2016;16(1):39-46. doi: 10.2174/1871530316666151218151101. Endocr Metab Immune Disord Drug Targets. 2016. PMID: 26680773 Free PMC article.

4

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A. Savino M, et al. Hum Mutat. 2004 Nov;24(5):441. doi: 10.1002/humu.9289. Hum Mutat. 2004. PMID: 15459969

5

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, Zelante L, Savoia A. Savino M, et al. Am J Hum Genet. 1997 Dec;61(6):1246-53. doi: 10.1086/301632. Am J Hum Genet. 1997. PMID: 9399890 Free PMC article.

6

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Savino M, Borriello A, D'Apolito M, Criscuolo M, Del Vecchio M, Bianco AM, Di Perna M, Calzone R, Nobili B, Zatterale A, Zelante L, Joenje H, Della Ragione F, Savoia A. Savino M, et al. Hum Mutat. 2003 Oct;22(4):338-9. doi: 10.1002/humu.9180. Hum Mutat. 2003. PMID: 12955722

7

Development of real-time quantitative reverse transcription-PCR for Her2 detection in peripheral blood from patients with breast cancer.

Savino M, Garrubba M, Parrella P, Baorda F, Copetti M, Murgo R, Zelante L, Carella M, Valori VM, Santini SA. Savino M, et al. Clin Chim Acta. 2007 Sep;384(1-2):52-6. doi: 10.1016/j.cca.2007.05.023. Epub 2007 Jun 6. Clin Chim Acta. 2007. PMID: 17599819

8

Comparison between real-time quantitative PCR detection of HER2 mRNA copy number in peripheral blood and ELISA of serum HER2 protein for determining HER2 status in breast cancer patients.

Savino M, Parrella P, Copetti M, Barbano R, Murgo R, Fazio VM, Valori VM, Carella M, Garrubba M, Santini SA. Savino M, et al. Cell Oncol. 2009;31(3):203-11. doi: 10.3233/CLO-2009-0468. Cell Oncol. 2009. PMID: 19478388 Free PMC article.

9

Effectiveness of a high-throughput genetic analysis in the identification of responders/non-responders to CYP2D6-metabolized drugs.

Savino M, Seripa D, Gallo AP, Garrubba M, D'Onofrio G, Bizzarro A, Paroni G, Paris F, Mecocci P, Masullo C, Pilotto A, Santini SA. Savino M, et al. Clin Lab. 2011;57(11-12):887-93. Clin Lab. 2011. PMID: 22239018

10

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.

Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L. Savoia A, et al. Among authors: savino m. Hum Genet. 1997 Jan;99(1):93-7. doi: 10.1007/s004390050318. Hum Genet. 1997. PMID: 9003502

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