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Items: 1 to 50 of 101

1.

Surgical Wound Infections in Plastic Surgery: Simplified, Practical, and Standardized Selection of High-risk Patients.

Starnoni M, Pinelli M, De Santis G.

Plast Reconstr Surg Glob Open. 2019 Apr 23;7(4):e2202. doi: 10.1097/GOX.0000000000002202. eCollection 2019 Apr. No abstract available.

PMID:
31321189
2.

Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.

Paolacci S, Precone V, Acquaviva F, Chiurazzi P, Fulcheri E, Pinelli M, Buffelli F, Michelini S, Herbst KL, Unfer V, Bertelli M; GeneOb Project.

Eur Rev Med Pharmacol Sci. 2019 Jul;23(13):5581-5594. doi: 10.26355/eurrev_201907_18292.

PMID:
31298310
3.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Jun 26. pii: S0002-9297(19)30226-5. doi: 10.1016/j.ajhg.2019.06.001. [Epub ahead of print]

PMID:
31256877
4.

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis.

Jaeger M, Pinelli M, Borghi M, Constantini C, Dindo M, van Emst L, Puccetti M, Pariano M, Ricaño-Ponce I, Büll C, Gresnigt MS, Wang X, Gutierrez Achury J, Jacobs CWM, Xu N, Oosting M, Arts P, Joosten LAB, van de Veerdonk FL, Veltman JA, Ten Oever J, Kullberg BJ, Feng M, Adema GJ, Wijmenga C, Kumar V, Sobel J, Gilissen C, Romani L, Netea MG.

Sci Transl Med. 2019 Jun 12;11(496). pii: eaar3558. doi: 10.1126/scitranslmed.aar3558.

PMID:
31189718
5.

Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.

Todaro F, Tamassia N, Pinelli M, Moratto D, Dotta L, Grassi A, Consonni F, Giacomelli M, Lionetti P, Gardiman E, Cassatella MA, Gambineri E, Canani RB, Badolato R.

Haematologica. 2019 Jul;104(7):e322-e325. doi: 10.3324/haematol.2018.202374. Epub 2019 May 9. No abstract available.

6.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11.

7.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium, Nigro V, Capra V.

Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.

PMID:
30936465
8.

Impact of HOXB7 overexpression on human adipose-derived mesenchymal progenitors.

Foppiani EM, Candini O, Mastrolia I, Murgia A, Grisendi G, Samarelli AV, Boscaini G, Pacchioni L, Pinelli M, De Santis G, Horwitz EM, Veronesi E, Dominici M.

Stem Cell Res Ther. 2019 Mar 19;10(1):101. doi: 10.1186/s13287-019-1200-6.

9.

MSC-Delivered Soluble TRAIL and Paclitaxel as Novel Combinatory Treatment for Pancreatic Adenocarcinoma.

Rossignoli F, Spano C, Grisendi G, Foppiani EM, Golinelli G, Mastrolia I, Bestagno M, Candini O, Petrachi T, Recchia A, Miselli F, Rovesti G, Orsi G, Veronesi E, Medici G, Petocchi B, Pinelli M, Horwitz EM, Conte P, Dominici M.

Theranostics. 2019 Jan 1;9(2):436-448. doi: 10.7150/thno.27576. eCollection 2019.

10.

Soluble TRAIL Armed Human MSC As Gene Therapy For Pancreatic Cancer.

Spano C, Grisendi G, Golinelli G, Rossignoli F, Prapa M, Bestagno M, Candini O, Petrachi T, Recchia A, Miselli F, Rovesti G, Orsi G, Maiorana A, Manni P, Veronesi E, Piccinno MS, Murgia A, Pinelli M, Horwitz EM, Cascinu S, Conte P, Dominici M.

Sci Rep. 2019 Feb 11;9(1):1788. doi: 10.1038/s41598-018-37433-6.

11.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Musacchia F, Ciolfi A, Mutarelli M, Bruselles A, Castello R, Pinelli M, Basu S, Banfi S, Casari G, Tartaglia M, Nigro V; TUDP.

BMC Bioinformatics. 2018 Dec 12;19(1):477. doi: 10.1186/s12859-018-2532-4.

12.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
13.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

14.

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.

Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C.

Acta Paediatr. 2019 Jan;108(1):171-172. doi: 10.1111/apa.14576. Epub 2018 Oct 17. No abstract available.

PMID:
30216533
15.

The Impact of Priming on Speed Reduction on a Ski Slope.

Pinelli M, Pellissier S, Bry C.

J Prim Prev. 2018 Oct;39(5):483-489. doi: 10.1007/s10935-018-0521-z.

PMID:
30120658
16.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP.

Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12.

17.

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B.

Genes (Basel). 2017 Oct 20;8(10). pii: E283. doi: 10.3390/genes8100283.

18.

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP, Brunetti-Pierri N.

Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. No abstract available. Erratum in: Ann Neurol. 2018 Nov;84(5):796.

PMID:
28972664
19.

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH.

PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017.

20.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N.

Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1.

PMID:
28867506
21.

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Cappuccio G, Pinelli M, Torella A, Alagia M, Auricchio R, Staiano A, Nigro V; TUDP, Brunetti-Pierri N.

Am J Med Genet A. 2017 Oct;173(10):2743-2746. doi: 10.1002/ajmg.a.38367. Epub 2017 Aug 2.

PMID:
28767192
22.

"I Wanna Be the Very Best!" Agreeableness and Perseverance Predict Sustained Playing to Pokémon Go: A Longitudinal Study.

Lalot F, Zerhouni O, Pinelli M.

Games Health J. 2017 Oct;6(5):271-278. doi: 10.1089/g4h.2017.0051. Epub 2017 Jun 29.

PMID:
28661725
23.

Corrigendum to "The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations" [Nutr Metab Cardiovasc Dis 26 (2016) 400-406].

Lapice E, Monticelli A, Cocozza S, Pinelli M, Massimino E, Giacco A, Rivellese AA, Cocozza S, Riccardi G, Vaccaro O.

Nutr Metab Cardiovasc Dis. 2017 May;27(5):472. doi: 10.1016/j.numecd.2017.03.006. Epub 2017 Apr 13. No abstract available.

PMID:
28412082
24.

[Clinical considerations about traumatic effects of sexual abuse in adolescents].

Pinelli M.

Vertex. 2017 Jan;28(131):61-65. Spanish.

PMID:
29522617
25.

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G.

Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Review.

PMID:
27683195
26.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Erratum in: Nat Genet. 2018 Nov;50(11):1615.

PMID:
27322544
27.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I.

Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12.

PMID:
27311568
28.

An atlas of gene expression and gene co-regulation in the human retina.

Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D.

Nucleic Acids Res. 2016 Jul 8;44(12):5773-84. doi: 10.1093/nar/gkw486. Epub 2016 May 27.

29.

The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations.

Lapice E, Monticelli A, Cocozza S, Pinelli M, Massimino E, Giacco A, Rivellese AA, Cocozza S, Riccardi G, Vaccaro O.

Nutr Metab Cardiovasc Dis. 2016 May;26(5):400-6. doi: 10.1016/j.numecd.2016.01.012. Epub 2016 Feb 22.

PMID:
27089973
30.

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.

Karali M, Persico M, Mutarelli M, Carissimo A, Pizzo M, Singh Marwah V, Ambrosio C, Pinelli M, Carrella D, Ferrari S, Ponzin D, Nigro V, di Bernardo D, Banfi S.

Nucleic Acids Res. 2016 Feb 29;44(4):1525-40. doi: 10.1093/nar/gkw039. Epub 2016 Jan 26.

31.

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LE, Gilissen C.

Am J Hum Genet. 2015 Jul 2;97(1):67-74. doi: 10.1016/j.ajhg.2015.05.008. Epub 2015 Jun 6.

32.

The PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.

Lapice E, Monticelli A, Cocozza S, Pinelli M, Cocozza S, Bruzzese D, Riccardi G, Vaccaro O.

J Transl Med. 2015 Mar 12;13:85. doi: 10.1186/s12967-015-0448-6.

33.

Computational modelling of emboli travel trajectories in cerebral arteries: influence of microembolic particle size and density.

Fabbri D, Long Q, Das S, Pinelli M.

Biomech Model Mechanobiol. 2014 Apr;13(2):289-302. doi: 10.1007/s10237-014-0561-0. Epub 2014 Mar 2.

34.

Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

Pinelli M, Acquaviva F, Barbetti F, Caredda E, Cocozza S, Delvecchio M, Mozzillo E, Pirozzi D, Prisco F, Rabbone I, Sacchetti L, Tinto N, Toni S, Zucchini S, Iafusco D; Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology.

PLoS One. 2013 Nov 11;8(11):e79933. doi: 10.1371/journal.pone.0079933. eCollection 2013.

35.

The energy intake modulates the association of the -55CT polymorphism of UCP3 with body weight in type 2 diabetic patients.

Lapice E, Monticelli A, Cocozza S, Pinelli M, Giacco A, Rivellese AA, Cocozza S, Riccardi G, Vaccaro O.

Int J Obes (Lond). 2014 Jun;38(6):873-7. doi: 10.1038/ijo.2013.174. Epub 2013 Sep 12.

PMID:
24026107
36.

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

Castaldo I, Vergara P, Pinelli M, Filla A, De Michele G, Cocozza S, Monticelli A.

Antioxid Redox Signal. 2013 Apr 10;18(11):1303-6. doi: 10.1089/ars.2012.5009. Epub 2012 Dec 13.

37.

Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2.

Pinelli M, Scala G, Amato R, Cocozza S, Miele G.

BMC Bioinformatics. 2012 Jun 14;13:132. doi: 10.1186/1471-2105-13-132.

38.

[WMSDs in supermarket cashiers].

Di Pede C, Manuli G, Dini F, Pinelli M, Turini L, Mariani M, Taddeo D.

G Ital Med Lav Ergon. 2011 Oct-Dec;33(4):452-5. Italian.

PMID:
22452104
39.

Improving the estimation of celiac disease sibling risk by non-HLA genes.

Izzo V, Pinelli M, Tinto N, Esposito MV, Cola A, Sperandeo MP, Tucci F, Cocozza S, Greco L, Sacchetti L.

PLoS One. 2011;6(11):e26920. doi: 10.1371/journal.pone.0026920. Epub 2011 Nov 7.

40.

Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).

Ragno M, Pianese L, Pinelli M, Silvestri S, Cacchiò G, Di Marzio F, Scarcella M, Coretti F, Altamura F, Monticelli A, Castaldo I.

Neurogenetics. 2011 Nov;12(4):337-43. doi: 10.1007/s10048-011-0298-1. Epub 2011 Sep 1.

PMID:
21881852
41.

Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation.

Amato R, Pinelli M, Monticelli A, Miele G, Cocozza S.

BMC Evol Biol. 2010 Nov 11;10:351. doi: 10.1186/1471-2148-10-351.

42.

Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients.

Lapice E, Pinelli M, Pisu E, Monticelli A, Gambino R, Pagano G, Valsecchi S, Cocozza S, Riccardi G, Vaccaro O.

Cardiovasc Diabetol. 2010 Oct 28;9:68. doi: 10.1186/1475-2840-9-68.

43.

Pro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetic patients: comment on the study by Liu et al.

Lapice E, Pinelli M, Riccardi G, Vaccaro O.

Diabetes Care. 2010 Aug;33(8):e114; author reply e115. doi: 10.2337/dc10-0596. No abstract available.

PMID:
20668149
44.

[Celiac disease and myelodysplastic syndrome. A case report].

Bindi M, Moruzzo D, Pinelli M, Rosada J, Castiglioni M.

Recenti Prog Med. 2010 Apr;101(4):157-8. Italian.

PMID:
20540400
45.

Giant genital cavernous haemangioma: case description and surgical management.

Sighinolfi MC, Bonetti LR, De Stefani S, Pinelli M, Micali S, Maiorana A, Schirosi L, Sartori G, De Gaetani C, Bianchi G.

Pathologica. 2009 Oct;101(5):183-5.

PMID:
20218059
46.

A novel approach to simulate gene-environment interactions in complex diseases.

Amato R, Pinelli M, D'Andrea D, Miele G, Nicodemi M, Raiconi G, Cocozza S.

BMC Bioinformatics. 2010 Jan 5;11:8. doi: 10.1186/1471-2105-11-8.

47.

Composite lower back and buttock reconstruction with gluteal myocutaneous flap in the just born.

Baccarani A, Jacob V, Pedone A, Pinelli M, De Santis G, Bianchini MA, Cacciari A.

Plast Reconstr Surg. 2009 Nov;124(5):269e-70e. doi: 10.1097/PRS.0b013e3181b98ebb. No abstract available.

PMID:
20009813
48.

Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases.

Amato R, Pinelli M, Monticelli A, Marino D, Miele G, Cocozza S.

PLoS One. 2009 Nov 20;4(11):e7927. doi: 10.1371/journal.pone.0007927.

49.

[Low T3 syndrome and left ventricular diastolic function].

Cassetti G, Pinelli M, Bindi M, Bianchi M, Castiglioni M.

G Ital Cardiol (Rome). 2009 Aug;10(8):553-7. Italian.

PMID:
19771751
50.

[Hypokalemia from ectopic ACTH secretion and hypothiroidism in patient affected by small cell lung cancer].

Bindi M, Moruzzo D, Pinelli M, Rosada J, Castiglioni M.

Recenti Prog Med. 2009 Mar;100(3):137-9. Italian.

PMID:
19475841

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