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Items: 1 to 50 of 118

1.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.

Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17.

PMID:
31090057
2.

Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.

Tortora A, La Sala D, Lonardo F, Vitale M.

BMJ Case Rep. 2019 May 10;12(5). pii: e228662. doi: 10.1136/bcr-2018-228662.

PMID:
31079043
3.

Profiling the Mutational Landscape in Known Driver Genes and Novel Genes in African American Non-Small Cell Lung Cancer Patients.

Lusk CM, Watza D, Dyson G, Craig D, Ratliff V, Wenzlaff AS, Lonardo F, Bollig-Fischer A, Bepler G, Purrington K, Gadgeel S, Schwartz AG.

Clin Cancer Res. 2019 Jul 15;25(14):4300-4308. doi: 10.1158/1078-0432.CCR-18-2439. Epub 2019 Apr 12.

PMID:
30979741
4.

Chronic p27Kip1 Induction by Dexamethasone Causes Senescence Phenotype and Permanent Cell Cycle Blockade in Lung Adenocarcinoma Cells Over-expressing Glucocorticoid Receptor.

Patki M, McFall T, Rosati R, Huang Y, Malysa A, Polin L, Fielder A, Wilson MR, Lonardo F, Back J, Li J, Matherly LH, Bepler G, Ratnam M.

Sci Rep. 2018 Oct 30;8(1):16006. doi: 10.1038/s41598-018-34475-8.

5.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
6.

Small 4p16.3 deletions: Three additional patients and review of the literature.

Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A.

Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23.

PMID:
30244530
7.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765.

PMID:
30190611
8.

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

de Stefano MC, Floridia G, Censi F, Tosto F, Salvatore M, Civolani A, Crescenzi B, Giardino D, Lenzini E, Lisi E, Lonardo F, Mancini M, Novelli A, Piombo G, Stioui S, Taruscio D.

Ann Ist Super Sanita. 2018 Apr-Jun;54(2):109-116. doi: 10.4415/ANN_18_02_06.

9.

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.

Remo A, Manfrin E, Parcesepe P, Ferrarini A, Han HS, Mickys U, Laudanna C, Simbolo M, Malanga D, Oliveira DM, Baritono E, Colangelo T, Sabatino L, Giuliani J, Molinari E, Garonzi M, Xumerle L, Delledonne M, Giordano G, Ghimenton C, Lonardo F, D'angelo F, Grillo F, Mastracci L, Viglietto G, Ceccarelli M, Colantuoni V, Scarpa A, Pancione M.

Mol Cancer Res. 2018 Sep;16(9):1385-1395. doi: 10.1158/1541-7786.MCR-18-0062. Epub 2018 May 21.

10.

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Lonardo F, Lonardo MS, Acquaviva F, Della Monica M, Scarano F, Scarano G.

Clin Genet. 2019 Feb;95(2):253-261. doi: 10.1111/cge.13127. Epub 2018 Jan 25. Review.

PMID:
28857140
11.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O.

Clin Genet. 2018 Mar;93(3):545-556. doi: 10.1111/cge.13060. Epub 2017 Sep 15. Review.

PMID:
28556904
12.

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Fontana P, Grasso M, Acquaviva F, Gennaro E, Galli ML, Falco M, Scarano F, Scarano G, Lonardo F.

Clin Genet. 2017 Oct;92(4):440-443. doi: 10.1111/cge.13005. Epub 2017 Mar 30.

PMID:
28266014
13.

An Essential Role of Maspin in Embryogenesis and Tumor Suppression.

Dzinic SH, Bernardo MM, Li X, Fernandez-Valdivia R, Ho YS, Mi QS, Bandyopadhyay S, Lonardo F, Vranic S, Oliveira DS, Bonfil RD, Dyson G, Chen K, Omerovic A, Sheng X, Han X, Wu D, Bi X, Cabaravdic D, Jakupovic U, Wahba M, Pang A, Harajli D, Sakr WA, Sheng S.

Cancer Res. 2017 Feb 15;77(4):886-896. doi: 10.1158/0008-5472.CAN-16-2219. Epub 2016 Dec 6.

14.

TGF-β/SMAD3 Pathway Stimulates Sphingosine-1 Phosphate Receptor 3 Expression: IMPLICATION OF SPHINGOSINE-1 PHOSPHATE RECEPTOR 3 IN LUNG ADENOCARCINOMA PROGRESSION.

Zhao J, Liu J, Lee JF, Zhang W, Kandouz M, VanHecke GC, Chen S, Ahn YH, Lonardo F, Lee MJ.

J Biol Chem. 2016 Dec 30;291(53):27343-27353. doi: 10.1074/jbc.M116.740084. Epub 2016 Nov 17.

15.

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
16.

Soy Isoflavones Promote Radioprotection of Normal Lung Tissue by Inhibition of Radiation-Induced Activation of Macrophages and Neutrophils.

Abernathy LM, Fountain MD, Rothstein SE, David JM, Yunker CK, Rakowski J, Lonardo F, Joiner MC, Hillman GG.

J Thorac Oncol. 2015 Dec;10(12):1703-12. doi: 10.1097/JTO.0000000000000677.

17.

Radiation-Induced Esophagitis is Mitigated by Soy Isoflavones.

Fountain MD, Abernathy LM, Lonardo F, Rothstein SE, Dominello MM, Yunker CK, Chen W, Gadgeel S, Joiner MC, Hillman GG.

Front Oncol. 2015 Oct 21;5:238. doi: 10.3389/fonc.2015.00238. eCollection 2015.

18.

The promise of non-invasive prenatal testing needs to be monitored scientifically.

Lonardo F, Scarano G.

BMJ. 2015 May 14;350:h2518. doi: 10.1136/bmj.h2518. No abstract available. Erratum in: BMJ. 2015;350:h2745. Gioacchino, Scarano [corrected to Scarano, Gioacchino].

PMID:
25975672
19.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Pavone LM, Di Gregorio G, Filocamo M, Scarano G.

Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8.

PMID:
25044788
20.

Maspin expression patterns differ in the invasive versus lepidic growth pattern of pulmonary adenocarcinoma.

Lonardo F, Guan H, Dzinic S, Sheng S.

Histopathology. 2014 Dec;65(6):757-63. doi: 10.1111/his.12485. Epub 2014 Sep 9.

21.

Axitinib Improves Radiotherapy in Murine Xenograft Lung Tumors.

Hillman GG, Lonardo F, Hoogstra DJ, Rakowski J, Yunker CK, Joiner MC, Dyson G, Gadgeel S, Singh-Gupta V.

Transl Oncol. 2014 May 23. pii: S1936-5233(14)00037-0. doi: 10.1016/j.tranon.2014.04.002. [Epub ahead of print]

22.

Identification of an intrinsic determinant critical for maspin subcellular localization and function.

Dzinic SH, Kaplun A, Li X, Bernardo M, Meng Y, Dean I, Krass D, Stemmer P, Shin N, Lonardo F, Sheng S.

PLoS One. 2013 Nov 21;8(11):e74502. doi: 10.1371/journal.pone.0074502. eCollection 2013.

23.

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

Della Monica M, Galzerano D, Di Michele S, Acquaviva F, Gregorio G, Lonardo F, Sguazzo F, Scarano F, Lama D, Scarano G.

Am J Med Genet A. 2013 Nov;161A(11):2920-9. doi: 10.1002/ajmg.a.36258. Epub 2013 Oct 3.

PMID:
24124101
24.

Radioprotection of lung tissue by soy isoflavones.

Hillman GG, Singh-Gupta V, Lonardo F, Hoogstra DJ, Abernathy LM, Yunker CK, Rothstein SE, Rakowski J, Sarkar FH, Gadgeel S, Konski AA, Joiner MC.

J Thorac Oncol. 2013 Nov;8(11):1356-64. doi: 10.1097/JTO.0b013e3182a4713e.

25.

Baseline inhibin B levels for diagnosis of central precocious puberty in girls.

De Filippo G, Rendina D, Nazzaro A, Lonardo F, Bouvattier C, Strazzullo P.

Horm Res Paediatr. 2013;80(3):207-12. doi: 10.1159/000354682. Epub 2013 Sep 18.

PMID:
24051691
26.

Differential effect of soy isoflavones in enhancing high intensity radiotherapy and protecting lung tissue in a pre-clinical model of lung carcinoma.

Hillman GG, Singh-Gupta V, Hoogstra DJ, Abernathy L, Rakowski J, Yunker CK, Rothstein SE, Sarkar FH, Gadgeel S, Konski AA, Lonardo F, Joiner MC.

Radiother Oncol. 2013 Oct;109(1):117-25. doi: 10.1016/j.radonc.2013.08.015. Epub 2013 Sep 7.

27.

Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.

Della Monica M, Mauri R, Scarano F, Lonardo F, Scarano G.

Am J Med Genet A. 2013 Apr;161A(4):809-16. doi: 10.1002/ajmg.a.35742. Epub 2013 Feb 26. Review.

PMID:
23444346
28.

Fine needle aspiration cytology of primary sphenoid sinus esthesioneuroblastoma metastatic to the skin.

Akinfolarin J, Jazaerly T, Jones K, Abu-Hamdan M, Lonardo F, Folbe A, Giorgadze T.

Avicenna J Med. 2012 Jan;2(1):15-8. doi: 10.4103/2231-0770.94806.

29.

Merkel cell carcinoma in a patient with noninvasive vulvar Paget's disease.

Winer IS, Lonardo F, Johnson SC, Deppe G.

Am J Obstet Gynecol. 2012 Jul;207(1):e9-11. doi: 10.1016/j.ajog.2012.03.028. Epub 2012 Mar 30.

PMID:
22503648
30.

HDAC1 inhibition by maspin abrogates epigenetic silencing of glutathione S-transferase pi in prostate carcinoma cells.

Li X, Kaplun A, Lonardo F, Heath E, Sarkar FH, Irish J, Sakr W, Sheng S.

Mol Cancer Res. 2011 Jun;9(6):733-45. doi: 10.1158/1541-7786.MCR-10-0505. Epub 2011 May 26.

31.

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.

Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F.

Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17. Review.

PMID:
21416588
32.

Frequency and type of epidermal growth factor receptor mutations in African Americans with non-small cell lung cancer.

Cote ML, Haddad R, Edwards DJ, Atikukke G, Gadgeel S, Soubani AO, Lonardo F, Bepler G, Schwartz AG, Ethier SP.

J Thorac Oncol. 2011 Mar;6(3):627-30. doi: 10.1097/JTO.0b013e31820a0ec0.

33.

XRP6258-induced gene expression patterns in head and neck cancer carcinoma.

Yoo GH, Kafri Z, Ensley JF, Lonardo F, Kim H, Folbe AJ, Won J, Stevens T, Lin HS.

Laryngoscope. 2010 Jun;120(6):1114-9. doi: 10.1002/lary.20559.

PMID:
20513026
34.

The natural tumor suppressor protein maspin and potential application in non small cell lung cancer.

Lonardo F, Li X, Kaplun A, Soubani A, Sethi S, Gadgeel S, Sheng S.

Curr Pharm Des. 2010 Jun;16(16):1877-81. Review.

35.

Intratumoral delivery of docetaxel enhances antitumor activity of Ad-p53 in murine head and neck cancer xenograft model.

Yoo GH, Subramanian G, Ezzat WH, Tulunay OE, Tran VR, Lonardo F, Ensley JF, Kim H, Won J, Stevens T, Zumstein LA, Lin HS.

Am J Otolaryngol. 2010 Mar-Apr;31(2):78-83. doi: 10.1016/j.amjoto.2008.10.002. Epub 2009 Mar 26.

PMID:
20015717
36.

Targeted proteasome inhibition by Velcade induces apoptosis in human mesothelioma and breast cancer cell lines.

Wang Y, Rishi AK, Puliyappadamba VT, Sharma S, Yang H, Tarca A, Dou QP, Lonardo F, Ruckdeschel JC, Pass HI, Wali A.

Cancer Chemother Pharmacol. 2010 Aug;66(3):455-66. doi: 10.1007/s00280-009-1181-8. Epub 2009 Dec 4.

37.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G.

Am J Med Genet A. 2009 Nov;149A(11):2452-6. doi: 10.1002/ajmg.a.33035.

PMID:
19839044
38.

A phase 2 trial of surgery with perioperative INGN 201 (Ad5CMV-p53) gene therapy followed by chemoradiotherapy for advanced, resectable squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, and larynx: report of the Southwest Oncology Group.

Yoo GH, Moon J, Leblanc M, Lonardo F, Urba S, Kim H, Hanna E, Tsue T, Valentino J, Ensley J, Wolf G.

Arch Otolaryngol Head Neck Surg. 2009 Sep;135(9):869-74. doi: 10.1001/archoto.2009.122.

39.

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation.

Lonardo F, Cantalupo G, Ciavarella M, Monica MD, Lombardi C, Maioli M, Masella L, Nazzaro A, Scarano G.

Prenat Diagn. 2009 Oct;29(10):998-1001. doi: 10.1002/pd.2329. No abstract available.

PMID:
19603386
40.

Protumorigenic role of HAPLN1 and its IgV domain in malignant pleural mesothelioma.

Ivanova AV, Goparaju CM, Ivanov SV, Nonaka D, Cruz C, Beck A, Lonardo F, Wali A, Pass HI.

Clin Cancer Res. 2009 Apr 15;15(8):2602-11. doi: 10.1158/1078-0432.CCR-08-2755. Epub 2009 Apr 7.

41.

Nuclear, compared with combined nuclear and cytoplasmic expression of maspin, is linked in lung adenocarcinoma to reduced VEGF-A levels and in Stage I, improved survival.

Frey A, Soubani AO, Adam AK, Sheng S, Pass HI, Lonardo F.

Histopathology. 2009 Apr;54(5):590-7. doi: 10.1111/j.1365-2559.2009.03260.x. Epub 2009 Mar 20.

42.

Effect of docetaxel on the surgical tumor microenvironment of head and neck cancer in murine models.

Yoo GH, Subramanian G, Piechocki MP, Ensley JF, Kucuk O, Tulunay OE, Lonardo F, Kim H, Won J, Stevens T, Lin HS.

Arch Otolaryngol Head Neck Surg. 2008 Jul;134(7):735-42. doi: 10.1001/archotol.134.7.735.

PMID:
18645124
43.

COX-2/EGFR expression and survival among women with adenocarcinoma of the lung.

Van Dyke AL, Cote ML, Prysak GM, Claeys GB, Wenzlaff AS, Murphy VC, Lonardo F, Schwartz AG.

Carcinogenesis. 2008 Sep;29(9):1781-7. doi: 10.1093/carcin/bgn107. Epub 2008 May 2.

44.

Reproductive factors, hormone use, estrogen receptor expression and risk of non small-cell lung cancer in women.

Schwartz AG, Wenzlaff AS, Prysak GM, Murphy V, Cote ML, Brooks SC, Skafar DF, Lonardo F.

J Clin Oncol. 2007 Dec 20;25(36):5785-92.

PMID:
18089876
45.

Gefitinib prevents cancer progression in mice expressing the activated rat HER2/neu.

Piechocki MP, Dibbley SK, Lonardo F, Yoo GH.

Int J Cancer. 2008 Apr 15;122(8):1722-9.

46.

Autoantibody approach for serum-based detection of head and neck cancer.

Lin HS, Talwar HS, Tarca AL, Ionan A, Chatterjee M, Ye B, Wojciechowski J, Mohapatra S, Basson MD, Yoo GH, Peshek B, Lonardo F, Pan CJ, Folbe AJ, Draghici S, Abrams J, Tainsky MA.

Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2396-405.

47.

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G.

Am J Med Genet A. 2007 Nov 15;143A(22):2733-7.

PMID:
17937430
48.

BMS-275183-induced gene expression patterns in head and neck carcinoma.

Yoo GH, Tran VR, Lemonnier LA, Ezzat WH, Subramanian G, Piechocki MP, Ensley JF, Lonardo F, Kim H, Lin HS.

Am J Otolaryngol. 2007 Sep-Oct;28(5):309-15.

PMID:
17826531
49.

Dissecting the Akt/mammalian target of rapamycin signaling network: emerging results from the head and neck cancer tissue array initiative.

Molinolo AA, Hewitt SM, Amornphimoltham P, Keelawat S, Rangdaeng S, Meneses García A, Raimondi AR, Jufe R, Itoiz M, Gao Y, Saranath D, Kaleebi GS, Yoo GH, Leak L, Myers EM, Shintani S, Wong D, Massey HD, Yeudall WA, Lonardo F, Ensley J, Gutkind JS.

Clin Cancer Res. 2007 Sep 1;13(17):4964-73.

50.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.

J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.

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