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Items: 1 to 50 of 727

1.

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M.

Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3.

2.

PTPRT epigenetic silencing defines lung cancer with STAT3 activation and can direct STAT3 targeted therapies.

Sen M, Kindsfather A, Danilova L, Zhang F, Colombo R, LaPorte MG, Kurland BF, Huryn DM, Wipf P, Herman JG.

Epigenetics. 2019 Oct 13:1-14. doi: 10.1080/15592294.2019.1676597. [Epub ahead of print]

PMID:
31595832
3.

Psychiatric disorders and SLC6A4 gene variants: possible effects on alcohol dependence and alzheimer's disease.

Calabrò M, Mandelli L, Crisafulli C, Porcelli S, Albani D, Politis A, Papadimitriou GN, Di Nicola M, Janiri L, Colombo R, Martinotti G, Bellomo A, Vieta E, Bonassi S, Frustaci A, Ducci G, Landi S, Boccia S, Serretti A.

Mol Biol Rep. 2019 Oct 8. doi: 10.1007/s11033-019-05119-5. [Epub ahead of print]

PMID:
31595439
4.

BDNF prevents central oxidative damage in a chronic unpredictable mild stress model: The possible role of PRDX-1 in anhedonic behavior.

Scotton E, Colombo R, Reis JC, Possebon GMP, Hizo GH, Valiati FE, Géa LP, Bristot G, Salvador M, Silva TM, Guerra AE, Lopes TF, Rosa AR, Kunz M.

Behav Brain Res. 2019 Sep 17;378:112245. doi: 10.1016/j.bbr.2019.112245. [Epub ahead of print]

PMID:
31539575
5.

Predictive factors of the absence of residual disease at repeated transurethral resection of the bladder. Is there a possibility to avoid it in well-selected patients?

Soria F, D'Andrea D, Moschini M, Giordano A, Mazzoli S, Pizzuto G, Hurle R, Colombo R, Briganti A, Altieri V, Shariat SF, Gontero P.

Urol Oncol. 2019 Sep 14. pii: S1078-1439(19)30328-X. doi: 10.1016/j.urolonc.2019.08.010. [Epub ahead of print]

PMID:
31526650
6.

How to improve patient selection for neoadjuvant chemotherapy in bladder cancer patients candidate for radical cystectomy and pelvic lymph node dissection.

Zamboni S, Moschini M, Antonelli A, Simeone C, Belotti S, Cristinelli L, Montorsi F, Briganti A, Gallina A, Salonia A, Colombo R, Mordasini L, Mattei A, Baumeister P.

World J Urol. 2019 Aug 28. doi: 10.1007/s00345-019-02916-2. [Epub ahead of print]

PMID:
31463561
7.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Karstensen HG, Rendtorff ND, Hindbæk LS, Colombo R, Stein A, Birkebæk NH, Hartmann-Petersen R, Lindorff-Larsen K, Højland AT, Petersen MB, Tranebjærg L.

Eur J Med Genet. 2019 Aug 23:103733. doi: 10.1016/j.ejmg.2019.103733. [Epub ahead of print]

PMID:
31449985
8.

Managing Palliative Patients in Inpatient Rehabilitation Through a Short Stay Family Training Program.

Smith S, Wilson CM, Lipple C, Avromov M, Maltese J, Siwa E Jr, Colombo R, Seidell JW.

Am J Hosp Palliat Care. 2019 Aug 1:1049909119867293. doi: 10.1177/1049909119867293. [Epub ahead of print]

PMID:
31370678
9.

Is the Brief-BESTest Brief Enough? Suggested Modifications Based on Structural Validity and Internal Consistency.

Godi M, Giardini M, Arcolin I, Ferrante S, Nardone A, Corna S, Colombo R.

Phys Ther. 2019 Jul 26. pii: pzz103. doi: 10.1093/ptj/pzz103. [Epub ahead of print]

PMID:
31348513
10.

Handling shock in idiopathic systemic capillary leak syndrome (Clarkson's disease) less is more: reply.

Wu MA, Colombo R, Podda GM, Cicardi M.

Intern Emerg Med. 2019 Jul 24. doi: 10.1007/s11739-019-02155-8. [Epub ahead of print] No abstract available.

PMID:
31342454
11.

Anhedonic-like behavior correlates with IFNγ serum levels in a two-hit model of depression.

Géa LP, Colombo R, Rosa EDD, Antqueviezc B, Aguiar ÉZ, Hizo GH, Schmidt GB, Oliveira LF, Stein DJ, Rosa AR.

Behav Brain Res. 2019 Nov 5;373:112076. doi: 10.1016/j.bbr.2019.112076. Epub 2019 Jul 5.

PMID:
31284015
12.

A new millifluidic-based gastrointestinal platform to evaluate the effect of simulated dietary methylglyoxal intakes.

Colombo R, Paolillo M, Papetti A.

Food Funct. 2019 Jul 17;10(7):4330-4338. doi: 10.1039/c9fo00332k.

PMID:
31273366
13.

Arbuscular mycorrhizal fungi in heavy metal highly polluted soil in the Riachuelo river basin.

Colombo RP, Benavidez ME, Fernandez Bidondo L, Silvani VA, Bompadre MJ, Statello M, Scorza MV, Scotti A, Godeas AM.

Rev Argent Microbiol. 2019 Jul 1. pii: S0325-7541(19)30053-7. doi: 10.1016/j.ram.2019.05.001. [Epub ahead of print]

14.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L.

Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26.

PMID:
31241255
15.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
16.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S.

J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1.

PMID:
31177572
17.

Handling shock in idiopathic systemic capillary leak syndrome (Clarkson's disease): less is more.

Wu MA, Colombo R, Podda GM, Cicardi M.

Intern Emerg Med. 2019 Aug;14(5):723-730. doi: 10.1007/s11739-019-02113-4. Epub 2019 Jun 1.

PMID:
31154613
18.

Attenuated inflammatory response of monocyte-derived macrophage from patients with BD: a preliminary report.

Ascoli BM, Parisi MM, Bristot G, Antqueviezc B, Géa LP, Colombo R, Kapczinski F, Guma FTCR, Brietzke E, Barbé-Tuana FM, Rosa AR.

Int J Bipolar Disord. 2019 Jun 1;7(1):13. doi: 10.1186/s40345-019-0148-x.

19.

Reduced perfusion density of superficial retinal capillary plexus after intravitreal ocriplasmin injection for idiopathic vitreomacular traction.

Iuliano L, Fogliato G, Colombo R, Sacconi R, Querques G, Bandello F, Codenotti M.

BMC Ophthalmol. 2019 May 10;19(1):108. doi: 10.1186/s12886-019-1119-9.

20.

FKBP5 Gene Variants May Modulate Depressive Features in Bipolar Disorder.

Calabrò M, Crisafulli C, Di Nicola M, Colombo R, Janiri L, Serretti A.

Neuropsychobiology. 2019;78(2):104-112. doi: 10.1159/000499976. Epub 2019 May 9.

PMID:
31071710
21.

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.

Sen K, Felice MD, Bannick A, Colombo R, Conway RL.

J Pediatr Genet. 2019 Jun;8(2):54-57. doi: 10.1055/s-0039-1683900. Epub 2019 Mar 27.

PMID:
31061746
22.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248.

PMID:
31042289
23.

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J.

J Hepatol. 2019 Aug;71(2):366-370. doi: 10.1016/j.jhep.2019.03.026. Epub 2019 Apr 4.

PMID:
30954460
24.

Severe and Progressive Cellulitis Caused by Serratia marcescens Following a Dog Scratch.

Pithadia DJ, Weathers EN, Colombo RE, Baer SL.

J Investig Med High Impact Case Rep. 2019 Jan-Dec;7:2324709619832330. doi: 10.1177/2324709619832330.

25.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PMID:
30923367
26.

The impact of completeness of last transurethral resection of bladder tumors on the outcomes of radical cystectomy.

Zamboni S, Moschini M, Gallina A, Colombo R, Montorsi F, Briganti A, Salonia A, Antonelli A, Simeone C, Belotti S, Cristinelli L, Mattei A, Baumeister P.

World J Urol. 2019 Mar 25. doi: 10.1007/s00345-019-02734-6. [Epub ahead of print]

PMID:
30911811
27.

Brugada Syndrome Caused by Autonomic Dysfunction in Multiple Sclerosis.

Ibrahim M, Saint-Croix G, Colombo R.

Case Rep Cardiol. 2019 Feb 7;2019:3937248. doi: 10.1155/2019/3937248. eCollection 2019.

28.

The SonicHand Protocol for Rehabilitation of Hand Motor Function: A Validation and Feasibility Study.

Colombo R, Raglio A, Panigazzi M, Mazzone A, Bazzini G, Imarisio C, Molteni D, Caltagirone C, Imbriani M.

IEEE Trans Neural Syst Rehabil Eng. 2019 Apr;27(4):664-672. doi: 10.1109/TNSRE.2019.2905076. Epub 2019 Mar 14.

PMID:
30872238
29.

Evaluation of Cause of Death After Radical Cystectomy for Patients With Bladder Cancer: The Impact of Age at the Time of Surgery.

Moschini M, Martini A, Zamboni S, Mattei A, Baumeister P, Di Bona C, Dell'Oglio P, Zaffuto E, Burgio G, Shariat SF, Sanchez-Salas R, Cathelineau X, Salonia A, Montorsi F, Briganti A, Gallina A, Colombo R.

Clin Genitourin Cancer. 2019 Jun;17(3):e541-e548. doi: 10.1016/j.clgc.2019.02.001. Epub 2019 Feb 13.

PMID:
30850337
30.

Association between left ventricular outflow tract opening and successful resuscitation after cardiac arrest.

Catena E, Ottolina D, Fossali T, Rech R, Borghi B, Perotti A, Ballone E, Bergomi P, Corona A, Castelli A, Colombo R.

Resuscitation. 2019 May;138:8-14. doi: 10.1016/j.resuscitation.2019.02.027. Epub 2019 Feb 27.

PMID:
30825552
31.

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Tatour Y, Tamaiev J, Shamaly S, Colombo R, Bril E, Rabinowitz T, Yaakobi A, Mezer E, Leibu R, Tiosano B, Shomron N, Chowers I, Banin E, Sharon D, Ben-Yosef T.

Mol Vis. 2019 Feb 22;25:155-164. eCollection 2019.

32.

Integration of single-cell RNA-seq data into population models to characterize cancer metabolism.

Damiani C, Maspero D, Di Filippo M, Colombo R, Pescini D, Graudenzi A, Westerhoff HV, Alberghina L, Vanoni M, Mauri G.

PLoS Comput Biol. 2019 Feb 28;15(2):e1006733. doi: 10.1371/journal.pcbi.1006733. eCollection 2019 Feb.

33.

Translation and cultural adaptation of the Computer Vision Syndrome Questionnaire (CVS-Q) into Italian.

Seguí-Crespo MDM, Cantó Sancho N, Ronda E, Colombo R, Porru S, Carta A.

Med Lav. 2019 Feb 22;110(1):37-45. doi: 10.23749/mdl.v110i1.7499. Italian.

PMID:
30794247
34.

Application of an HPLC-MS/MS method for Teicoplanin drug substance and related impurities, part 2: Identity assignment of related impurities.

Tengattini S, Corana F, Bianchi D, Marrubini G, Colombo R, Furlanetto S, Terreni M, Temporini C.

J Pharm Biomed Anal. 2019 May 10;168:38-43. doi: 10.1016/j.jpba.2019.02.017. Epub 2019 Feb 13.

PMID:
30784888
35.

Mortality risk after herpes zoster infection in end-stage renal disease patients.

Ahn JH, Waller JL, Baer SL, Colombo RE, Kheda MF, Nahman NS Jr, Turrentine JE.

Clin Kidney J. 2019 Feb;12(1):101-105. doi: 10.1093/ckj/sfy058. Epub 2018 Jul 17.

36.

Radical Cystectomy in Pathological T4a and T4b Bladder Cancer Patients: Is There Any Space for Sub Stratification?

Moschini M, Zamboni S, Mattei A, Baumeister P, Di Bona C, Cornelius J, Shariat SF, Freschi M, Zaffuto E, Salonia A, Montorsi F, Briganti A, Colombo R, Gallina A; Ospedale San Raffaele.

Urol Int. 2019;102(3):269-276. doi: 10.1159/000493899. Epub 2019 Jan 29.

PMID:
30695782
37.

Multidisciplinary approach to prostatitis.

Magri V, Boltri M, Cai T, Colombo R, Cuzzocrea S, De Visschere P, Giuberti R, Granatieri CM, Latino MA, Larganà G, Leli C, Maierna G, Marchese V, Massa E, Matteelli A, Montanari E, Morgia G, Naber KG, Papadouli V, Perletti G, Rekleiti N, Russo GI, Sensini A, Stamatiou K, Trinchieri A, Wagenlehner FME.

Arch Ital Urol Androl. 2019 Jan 18;90(4):227-248. doi: 10.4081/aiua.2018.4.227.

38.

An outlook on the role of decaffeinated coffee in neurodegenerative diseases.

Colombo R, Papetti A.

Crit Rev Food Sci Nutr. 2019 Jan 7:1-20. doi: 10.1080/10408398.2018.1550384. [Epub ahead of print]

PMID:
30614247
39.

White matter volume is decreased in bipolar disorder at early and late stages.

Duarte JA, Massuda R, Goi PD, Vianna-Sulzbach M, Colombo R, Kapczinski F, Gama CS.

Trends Psychiatry Psychother. 2018 Oct-Dec;40(4):277-284. doi: 10.1590/2237-6089-2017-0025.

40.

Detection of arbuscular mycorrhizal fungi associated with pecan (Caryaillinoinensis) trees by molecular and morphological approaches.

Idondo LF, Colombo RP, Recchi M, Silvani VA, Pérgola M, Martínez A, Godeas AM.

MycoKeys. 2018 Nov 30;(42):73-88. doi: 10.3897/mycokeys.42.26118. eCollection 2018.

41.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE.

Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406.

PMID:
30481285
42.

Optimization of Phenyl Indole Inhibitors of the AAA+ ATPase p97.

LaPorte MG, Burnett JC, Colombo R, Bulfer SL, Alverez C, Chou TF, Neitz RJ, Green N, Moore WJ, Yue Z, Li S, Arkin MR, Wipf P, Huryn DM.

ACS Med Chem Lett. 2018 Sep 18;9(11):1075-1081. doi: 10.1021/acsmedchemlett.8b00372. eCollection 2018 Nov 8.

43.

Corrigendum re "Neoadjuvant Short-term Intensive Intravesical Mitomycin C Regimen Compared with Weekly Schedule for Low-grade Recurrent Non-muscle-invasive Bladder Cancer: Preliminary Results of a Randomised Phase 2 Study" [Eur Urol 2012;62:797-802].

Colombo R, Rocchini L, Suardi N, Benigni F, Colciago G, Bettiga A, Pellucchi F, Maccagnano C, Briganti A, Salonia A, Rigatti P, Montorsi F.

Eur Urol. 2019 Mar;75(3):e81. doi: 10.1016/j.eururo.2018.09.012. Epub 2018 Nov 5. No abstract available.

PMID:
30409675
44.

Unusual case of traumatic carotid artery dissection occurred during a work-related activity. A case report.

Garberi C, Ravizza R, Colombo R, Borromeo F, Rossetti C, Cisini S, Motta M, Birkhoff JM.

Med Lav. 2018 Oct 30;110(5):387-390. doi: 10.23749/mdl.v110i5.7642.

PMID:
30378589
45.

Correction to: "Familial venoms": a thallium intoxication cluster.

Ratti F, Facchini A, Beck E, Cazzaniga S, Francesconi S, Tedesco C, Terrani A, Ciceri G, Colombo R, Saini M, Petrolini VM, Citerio G.

Intensive Care Med. 2018 Dec;44(12):2321-2322. doi: 10.1007/s00134-018-5418-z.

PMID:
30374694
46.

Pembrolizumab as Neoadjuvant Therapy Before Radical Cystectomy in Patients With Muscle-Invasive Urothelial Bladder Carcinoma (PURE-01): An Open-Label, Single-Arm, Phase II Study.

Necchi A, Anichini A, Raggi D, Briganti A, Massa S, Lucianò R, Colecchia M, Giannatempo P, Mortarini R, Bianchi M, Farè E, Monopoli F, Colombo R, Gallina A, Salonia A, Messina A, Ali SM, Madison R, Ross JS, Chung JH, Salvioni R, Mariani L, Montorsi F.

J Clin Oncol. 2018 Oct 20:JCO1801148. doi: 10.1200/JCO.18.01148. [Epub ahead of print]

PMID:
30343614
47.

Methods of aril removal and lightness conditions on seeds physiological quality of sour passion fruits.

Colombo RC, Costa DS, Carvalho DU, Cruz MA, Roberto SR.

Braz J Biol. 2019 Jul-Sep;79(3):404-409. doi: 10.1590/1519-6984.178623. Epub 2018 Oct 4.

48.

"Familial venoms": a thallium intoxication cluster.

Ratti F, Facchini A, Beck E, Cazzaniga S, Francesconi S, Tedesco C, Terrani A, Ciceri G, Colombo R, Saini M, Petrolini VM, Citerio G.

Intensive Care Med. 2018 Dec;44(12):2298-2299. doi: 10.1007/s00134-018-5403-6. Epub 2018 Oct 6. No abstract available. Erratum in: Intensive Care Med. 2018 Oct 29;:.

PMID:
30293149
49.

Development of a Prediction Tool for Exclusive Locoregional Recurrence After Radical Cystectomy in Patients With Muscle-Invasive Bladder Cancer.

Necchi A, Pond GR, Moschini M, Plimack ER, Niegisch G, Yu EY, Bamias A, Agarwal N, Vaishampayan U, Theodore C, Sridhar SS, Rosenberg JE, Bellmunt J, Gallina A, Colombo R, Montorsi F, Briganti A, Galsky MD.

Clin Genitourin Cancer. 2019 Feb;17(1):7-14.e3. doi: 10.1016/j.clgc.2018.09.008. Epub 2018 Sep 13.

PMID:
30292628
50.

Is Dietary Protein Intake Predictive of 1-Year Mortality in Dialysis Patients?

Murray DP, Young L, Waller J, Wright S, Colombo R, Baer S, Spearman V, Garcia-Torres R, Williams K, Kheda M, Nahman NS Jr.

Am J Med Sci. 2018 Sep;356(3):234-243. doi: 10.1016/j.amjms.2018.06.010. Epub 2018 Jun 19.

PMID:
30286818

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