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Items: 1 to 50 of 186

1.

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.

Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A.

J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.

PMID:
31501477
2.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

3.

Anomeric sugar boronic acid analogues as potential agents for boron neutron capture therapy.

Imperio D, Del Grosso E, Fallarini S, Lombardi G, Panza L.

Beilstein J Org Chem. 2019 Jun 19;15:1355-1359. doi: 10.3762/bjoc.15.135. eCollection 2019.

4.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P.

Medicina (Kaunas). 2019 Jul 7;55(7). pii: E345. doi: 10.3390/medicina55070345.

5.

Study of Anopheles gambiae 3-hydroxykynurenine transaminase activity and inhibition by LC-MS/MS method.

Canavesi R, Miggiano R, Stella M, Galli U, Rossi F, Rizzi M, Del Grosso E.

J Pharm Biomed Anal. 2019 Sep 5;173:154-161. doi: 10.1016/j.jpba.2019.05.025. Epub 2019 May 13.

PMID:
31129535
6.

Exploiting the Nucleophilicity of the Nitrogen Atom of Imidazoles: One-Pot Three-Component Synthesis of Imidazo-Pyrazines.

Galli U, Hysenlika R, Meneghetti F, Del Grosso E, Pelliccia S, Novellino E, Giustiniano M, Tron GC.

Molecules. 2019 May 21;24(10). pii: E1959. doi: 10.3390/molecules24101959.

7.

On the Complexity of Visual Judgement of Kinship.

Brodo L, Grosso E.

Iperception. 2019 May 6;10(3):2041669519841642. doi: 10.1177/2041669519841642. eCollection 2019 May-Jun.

8.

Assessment of a High Sensitivity Method for Identification of IDH1 R132x Mutations in Tumors and Plasma of Intrahepatic Cholangiocarcinoma Patients.

Peraldo-Neia C, Scatolini M, Grosso E, Lombardi P, Filippi R, Raggi C, Marchiò C, Cavalloni G, Aglietta M, Leone F.

Cancers (Basel). 2019 Mar 30;11(4). pii: E454. doi: 10.3390/cancers11040454.

9.

Programmable RNA-based systems for sensing and diagnostic applications.

Rossetti M, Del Grosso E, Ranallo S, Mariottini D, Idili A, Bertucci A, Porchetta A.

Anal Bioanal Chem. 2019 Jul;411(19):4293-4302. doi: 10.1007/s00216-019-01622-7. Epub 2019 Feb 8. Review.

PMID:
30734852
10.

Fuel-Responsive Allosteric DNA-Based Aptamers for the Transient Release of ATP and Cocaine.

Del Grosso E, Ragazzon G, Prins LJ, Ricci F.

Angew Chem Int Ed Engl. 2019 Apr 16;58(17):5582-5586. doi: 10.1002/anie.201812885. Epub 2019 Mar 6.

PMID:
30715777
11.

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G.

Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018.

12.

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

Giorgio E, Sirchia F, Bosco M, Sobreira NLM; Baylor-Hopkins Center for Mendelian Genomics, Grosso E, Brussino A, Brusco A.

Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.

13.

Fascia-iliaca compartment block vs intra-articular hip injection for preoperative pain management in intracapsular hip fractures: A blind, randomized, controlled trial.

Aprato A, Audisio A, Santoro A, Grosso E, Devivo S, Berardino M, Massè A.

Injury. 2018 Dec;49(12):2203-2208. doi: 10.1016/j.injury.2018.09.042. Epub 2018 Sep 26.

PMID:
30274756
14.

Remote Electronic Control of DNA-Based Reactions and Nanostructure Assembly.

Amodio A, Del Grosso E, Troina A, Placidi E, Ricci F.

Nano Lett. 2018 May 9;18(5):2918-2923. doi: 10.1021/acs.nanolett.8b00179. Epub 2018 Apr 5.

PMID:
29608313
15.

Dissipative Synthetic DNA-Based Receptors for the Transient Loading and Release of Molecular Cargo.

Del Grosso E, Amodio A, Ragazzon G, Prins LJ, Ricci F.

Angew Chem Int Ed Engl. 2018 Aug 13;57(33):10489-10493. doi: 10.1002/anie.201801318. Epub 2018 May 2.

PMID:
29603570
16.

Troxerutin, a mixture of O-hydroxyethyl derivatives of the natural flavonoid rutin: Chemical stability and analytical aspects.

Bianchi M, Canavesi R, Aprile S, Grosa G, Del Grosso E.

J Pharm Biomed Anal. 2018 Feb 20;150:248-257. doi: 10.1016/j.jpba.2017.12.018. Epub 2017 Dec 9.

PMID:
29258044
17.

"One-pot" ethyl chloroformate derivatization and liquid-liquid extraction of reduced glutathione in erythrocyte and its quantitative GC-MS analysis.

Manca A, Alladio E, Massarenti P, Puccinelli MP, De Francesco A, Del Grosso E, Mengozzi G, Pazzi M, Vincenti M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Dec 1;1070:15-22. doi: 10.1016/j.jchromb.2017.10.030. Epub 2017 Oct 20.

PMID:
29100759
18.

Proneurogenic Effects of Trazodone in Murine and Human Neural Progenitor Cells.

Bortolotto V, Mancini F, Mangano G, Salem R, Xia E, Del Grosso E, Bianchi M, Canonico PL, Polenzani L, Grilli M.

ACS Chem Neurosci. 2017 Sep 20;8(9):2027-2038. doi: 10.1021/acschemneuro.7b00175. Epub 2017 Jul 3.

19.

New insights in the metabolism of oxybutynin: evidence of N-oxidation of propargylamine moiety and rearrangement to enaminoketone.

Aprile S, Canavesi R, Matucci R, Bellucci C, Del Grosso E, Grosa G.

Xenobiotica. 2018 May;48(5):478-487. doi: 10.1080/00498254.2017.1342288. Epub 2017 Jul 6.

PMID:
28608746
20.

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.

Rubino E, Giorgio E, Godani M, Grosso E, Zibetti M, Lopiano L, Ferrero P, Duca S, Moretti L, Gallone S, Rainero I, Brusco A.

J Neurol Sci. 2017 Jun 15;377:62-64. doi: 10.1016/j.jns.2017.03.053. Epub 2017 Mar 31. No abstract available.

21.

Synthesis and Degradation of Adenosine 5'-Tetraphosphate by Nicotinamide and Nicotinate Phosphoribosyltransferases.

Amici A, Grolla AA, Del Grosso E, Bellini R, Bianchi M, Travelli C, Garavaglia S, Sorci L, Raffaelli N, Ruggieri S, Genazzani AA, Orsomando G.

Cell Chem Biol. 2017 May 18;24(5):553-564.e4. doi: 10.1016/j.chembiol.2017.03.010. Epub 2017 Apr 13.

22.

Synthesis of Sugar-Boronic Acid Derivatives: A Class of Potential Agents for Boron Neutron Capture Therapy.

Imperio D, Del Grosso E, Fallarini S, Lombardi G, Panza L.

Org Lett. 2017 Apr 7;19(7):1678-1681. doi: 10.1021/acs.orglett.7b00382. Epub 2017 Mar 28.

PMID:
28350469
23.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB.

Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

PMID:
28295210
24.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S.

Kidney Int. 2017 May;91(5):1243-1255. doi: 10.1016/j.kint.2016.12.017. Epub 2017 Feb 21.

PMID:
28233610
25.

Identification of Novel Triazole-Based Nicotinamide Phosphoribosyltransferase (NAMPT) Inhibitors Endowed with Antiproliferative and Antiinflammatory Activity.

Travelli C, Aprile S, Rahimian R, Grolla AA, Rogati F, Bertolotti M, Malagnino F, di Paola R, Impellizzeri D, Fusco R, Mercalli V, Massarotti A, Stortini G, Terrazzino S, Del Grosso E, Fakhfouri G, Troiani MP, Alisi MA, Grosa G, Sorba G, Canonico PL, Orsomando G, Cuzzocrea S, Genazzani AA, Galli U, Tron GC.

J Med Chem. 2017 Mar 9;60(5):1768-1792. doi: 10.1021/acs.jmedchem.6b01392. Epub 2017 Feb 22.

PMID:
28165742
26.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Sirchia F, Di Gregorio E, Restagno G, Grosso E, Pappi P, Talarico F, Savin E, Cavalieri S, Giorgio E, Mancini C, Pasini B, Mehta JS, Brusco A.

Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.

27.

Solitary thyroid metastasis from colon cancer: a rare case report.

Nicosia L, Alessi S, Proh M, Grosso E, Ansarin M, Vingiani A, Pisa E, De Fiori E.

Ecancermedicalscience. 2016 Nov 24;10:696. doi: 10.3332/ecancer.2016.696. eCollection 2016.

28.

A modular clamp-like mechanism to regulate the activity of nucleic-acid target-responsive nanoswitches with external activators.

Del Grosso E, Idili A, Porchetta A, Ricci F.

Nanoscale. 2016 Oct 27;8(42):18057-18061.

PMID:
27714163
29.

Development and validation of a stability-indicating HPLC-UV method for the determination of Thiocolchicoside and its degradation products.

Aprile S, Canavesi R, Bianchi M, Grosa G, Del Grosso E.

J Pharm Biomed Anal. 2017 Jan 5;132:66-71. doi: 10.1016/j.jpba.2016.09.037. Epub 2016 Sep 26.

PMID:
27697571
30.

New insights in oxybutynin chemical stability: Identification in transdermal patches of a new impurity arising from oxybutynin N-oxide rearrangement.

Canavesi R, Aprile S, Giovenzana GB, Di Sotto A, Di Giacomo S, Del Grosso E, Grosa G.

Eur J Pharm Sci. 2016 Mar 10;84:123-31. doi: 10.1016/j.ejps.2016.01.015. Epub 2016 Jan 18.

PMID:
26796144
31.

Is there a role of pulsed electromagnetic fields in management of patellofemoral pain syndrome? Randomized controlled study at one year follow-up.

Servodio Iammarrone C, Cadossi M, Sambri A, Grosso E, Corrado B, Servodio Iammarrone F.

Bioelectromagnetics. 2016 Feb;37(2):81-8. doi: 10.1002/bem.21953. Epub 2016 Jan 12.

PMID:
26756278
32.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.

Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A.

Cytogenet Genome Res. 2015;147(1):10-6. doi: 10.1159/000442308. Epub 2015 Dec 12.

33.

Enzyme-Operated DNA-Based Nanodevices.

Del Grosso E, Dallaire AM, Vallée-Bélisle A, Ricci F.

Nano Lett. 2015 Dec 9;15(12):8407-11. doi: 10.1021/acs.nanolett.5b04566. Epub 2015 Nov 25.

34.

Does lesser trochanter implication affect hip flexion strength in proximal femur fracture?

Aprato A, Lo Baido R, Crosio A, Matteotti R, Grosso E, Massè A.

Eur J Trauma Emerg Surg. 2015 Oct;41(5):523-9. doi: 10.1007/s00068-014-0476-6. Epub 2014 Nov 22.

PMID:
26038002
35.

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A.

Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.

36.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.

Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.

37.

Solution-phase parallel synthesis of aryloxyimino amides via a novel multicomponent reaction among aromatic (Z)-chlorooximes, isocyanides, and electron-deficient phenols.

Mercalli V, Giustiniano M, Del Grosso E, Varese M, Cassese H, Massarotti A, Novellino E, Tron GC.

ACS Comb Sci. 2014 Nov 10;16(11):602-5. doi: 10.1021/co5000882. Epub 2014 Oct 22.

PMID:
25319356
38.

Motor and functional recovery after neck dissection: comparison of two early physical rehabilitation programmes.

Baggi F, Santoro L, Grosso E, Zanetti C, Bonacossa E, Sandrin F, Massaro MA, Tradati N, Simoncini MC.

Acta Otorhinolaryngol Ital. 2014 Aug;34(4):230-40.

39.

Are 1,4- and 1,5-disubstituted 1,2,3-triazoles good pharmacophoric groups?

Massarotti A, Aprile S, Mercalli V, Del Grosso E, Grosa G, Sorba G, Tron GC.

ChemMedChem. 2014 Nov;9(11):2497-508. doi: 10.1002/cmdc.201402233. Epub 2014 Jul 30.

PMID:
25079879
40.

Central neck dissection in differentiated thyroid cancer: technical notes.

Giugliano G, Proh M, Gibelli B, Grosso E, Tagliabue M, De Fiori E, Maffini F, Chiesa F, Ansarin M.

Acta Otorhinolaryngol Ital. 2014 Feb;34(1):9-14.

41.

Algorithm to predict postoperative complications in oropharyngeal and oral cavity carcinoma.

Santoro L, Tagliabue M, Massaro MA, Ansarin M, Calabrese L, Giugliano G, Alterio D, Cossu Rocca M, Grosso E, Plànicka M, Benazzo M, Chiesa F.

Head Neck. 2015 Apr;37(4):548-56. doi: 10.1002/hed.23637.

PMID:
24677505
42.

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P.

Mol Cytogenet. 2013 Oct 30;6(1):45. doi: 10.1186/1755-8166-6-45.

43.

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.

Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A.

Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16. Review.

PMID:
24038848
44.

Erythrocyte glutathione transferase: a non-antibody biomarker for systemic sclerosis, which correlates with severity and activity of the disease.

Fabrini R, Rosato E, Gigante A, Bocedi A, Cianci R, Barbano B, Del Grosso E, Ricci F, Zingaretti V, Salsano F, Ricci G.

Cell Death Dis. 2013 Jul 25;4:e736. doi: 10.1038/cddis.2013.255.

45.

The impact of nitric oxide toxicity on the evolution of the glutathione transferase superfamily: a proposal for an evolutionary driving force.

Bocedi A, Fabrini R, Farrotti A, Stella L, Ketterman AJ, Pedersen JZ, Allocati N, Lau PC, Grosse S, Eltis LD, Ruzzini A, Edwards TE, Morici L, Del Grosso E, Guidoni L, Bovi D, Lo Bello M, Federici G, Parker MW, Board PG, Ricci G.

J Biol Chem. 2013 Aug 23;288(34):24936-47. doi: 10.1074/jbc.M113.476135. Epub 2013 Jul 3.

46.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A.

J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7.

47.

Metabolic fate of combretastatin A-1: LC-DAD-MS/MS investigation and biological evaluation of its reactive metabolites.

Aprile S, Zaninetti R, Del Grosso E, Genazzani AA, Grosa G.

J Pharm Biomed Anal. 2013 May 5;78-79:233-42. doi: 10.1016/j.jpba.2013.02.030. Epub 2013 Feb 27.

PMID:
23501444
48.

Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy.

Ghimenti C, Mello-Grand M, Grosso E, Scatolini M, Regolo L, Zambelli A, Chiorino G.

Exp Ther Med. 2013 Mar;5(3):902-906. Epub 2012 Dec 24.

49.

A Decision Support System for the assisted diagnosis of brain tumors: a feasibility study for ¹⁸F-FDG PET preclinical studies.

Grosso E, López M, Salvatore C, Gallivanone F, Di Grigoli G, Valtorta S, Moresco R, Gilardi MC, Ramírez J, Górriz JM, Castiglioni I.

Conf Proc IEEE Eng Med Biol Soc. 2012;2012:6255-8. doi: 10.1109/EMBC.2012.6347424.

PMID:
23367359
50.

Life-threatening tumors of the heart in fetal and postnatal age.

Pucci A, Botta G, Sina N, Tibaldi M, Valori A, Grosso E, Zonta A, Giudici M, Agnoletti G, Bergamasco L, Abbruzzese PA, Bartoloni G.

J Pediatr. 2013 May;162(5):964-9.e1. doi: 10.1016/j.jpeds.2012.10.055. Epub 2012 Dec 7.

PMID:
23219450

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