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Items: 30

1.

Hb Milano [α109(G16)Leu→Pro (CTG>CCG); HBA1: c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family.

Curcio C, Giannone V, Benzoni E, Cesaretti C, Ivaldi G.

Hemoglobin. 2019 Jan;43(1):4-6. doi: 10.1080/03630269.2019.1566138. Epub 2019 May 14.

PMID:
31084368
2.

NF1 Alterations are Linked to Increased HER2 Expression in Breast Cancer-Letter.

Gambini D, Natacci F, Cesaretti C, Fusco N.

Cancer Prev Res (Phila). 2019 Mar;12(3):195-196. doi: 10.1158/1940-6207.CAPR-18-0392. Epub 2019 Feb 21. No abstract available.

PMID:
30792346
3.

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F.

J Hum Genet. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7.

PMID:
29479078
4.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F.

J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. Erratum in: J Hum Genet. 2018 Mar;63(3):391.

PMID:
28747691
5.

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report.

Zirpoli S, Munari AM, Rustico M, Bulfamante G, Lista G, Spaccini L, Cesaretti C.

J Prenat Med. 2016 Jul-Dec;10(3-4):15-19. doi: 10.11138/jpm/2016.10.3.015.

6.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
7.

O034. Type of pain and onabotulinumtoxin-A in chronic migraine: four years of follow-up.

Cesaretti C, Molesti E, Lolli F, Amantini A, Lori S.

J Headache Pain. 2015 Dec;16(Suppl 1):A89. doi: 10.1186/1129-2377-16-S1-A89. No abstract available.

8.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

9.

Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, Redaelli S, Bulfamante G, Avagliano L, Rustico M.

Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10.

PMID:
26864752
10.

126 novel mutations in Italian patients with neurofibromatosis type 1.

Bianchessi D, Morosini S, Saletti V, Ibba MC, Natacci F, Esposito S, Cesaretti C, Riva D, Finocchiaro G, Eoli M.

Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. doi: 10.1002/mgg3.161. eCollection 2015 Nov.

11.

Diagnostic Value of Prenatal MR Imaging in the Detection of Brain Malformations in Fetuses before the 26th Week of Gestational Age.

Conte G, Parazzini C, Falanga G, Cesaretti C, Izzo G, Rustico M, Righini A.

AJNR Am J Neuroradiol. 2016 May;37(5):946-51. doi: 10.3174/ajnr.A4639. Epub 2015 Dec 31.

12.

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging.

Righini A, Cesaretti C, Conte G, Parazzini C, Frassoni C, Bulfamante G, Avagliano L, Inverardi F, Izzo G, Rustico M.

Neuroradiology. 2016 Mar;58(3):293-300. doi: 10.1007/s00234-015-1622-5. Epub 2015 Nov 25.

PMID:
26608601
13.

Variability of Forebrain Commissures in Callosal Agenesis: A Prenatal MR Imaging Study.

Cesaretti C, Nanni M, Ghi T, Parazzini C, Conte G, Contro E, Grisolia G, Righini A.

AJNR Am J Neuroradiol. 2016 Mar;37(3):521-7. doi: 10.3174/ajnr.A4570. Epub 2015 Oct 29.

14.

Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports.

Izzo G, Conte G, Cesaretti C, Parazzini C, Bulfamante G, Righini A.

Neuropediatrics. 2015 Dec;46(6):416-9. doi: 10.1055/s-0035-1565274. Epub 2015 Oct 19.

PMID:
26479763
15.

Prenatal MR imaging features of isolated cerebellar haemorrhagic lesions.

Martino F, Malova M, Cesaretti C, Parazzini C, Doneda C, Ramenghi LA, Rossi A, Righini A.

Eur Radiol. 2016 Aug;26(8):2685-96. doi: 10.1007/s00330-015-4053-0. Epub 2015 Oct 16.

PMID:
26474987
16.

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.

Cesaretti C, Spaccini L, Rustico M, Parazzini C, Doneda C, Re TJ, Righini A.

Prenat Diagn. 2014 Oct;34(10):1015-7. doi: 10.1002/pd.4415. Epub 2014 Jun 11.

PMID:
24839128
17.

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Baranello G, Cesaretti C, Zambonin F, Casalone R, Granata P, Esposito S, Alfei E, Natacci F.

J Child Neurol. 2013 Nov;28(11):1463-1466. Epub 2013 Apr 22.

PMID:
23611886
18.

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Cesaretti C, Melloni G, Quagliarini D, Fogliani R, Zaina B, Bedeschi MF, Lalatta F, Trespidi L, Natacci F.

Am J Med Genet A. 2013 Feb;161A(2):386-8. doi: 10.1002/ajmg.a.35720. Epub 2013 Jan 16. No abstract available.

PMID:
23325535
19.

Does absolute excess of alpha chains compromise the benefit of splenectomy in patients with thalassemia intermedia?

Graziadei G, Refaldi C, Barcellini W, Cesaretti C, Cassinero E, Musallam KM, Cappellini MD.

Haematologica. 2012 Jan;97(1):151-3. doi: 10.3324/haematol.2011.046730. Epub 2011 Oct 11. No abstract available.

20.

Levels of growth differentiation factor-15 are high and correlate with clinical severity in transfusion-independent patients with β thalassemia intermedia.

Musallam KM, Taher AT, Duca L, Cesaretti C, Halawi R, Cappellini MD.

Blood Cells Mol Dis. 2011 Dec 15;47(4):232-4. doi: 10.1016/j.bcmd.2011.07.005. Epub 2011 Aug 23.

PMID:
21865063
21.

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Cesaretti C, Gentilin B, Bianchi V, Melloni G, Bonaguro M, Rossi C, Meazzini C, Brusati R, Lalatta F.

Clin Dysmorphol. 2011 Oct;20(4):229-31. doi: 10.1097/MCD.0b013e3283491725. No abstract available.

PMID:
21772136
22.

Pregnant women affected by thalassemia major: a controlled study of traits and personality.

Messina G, Colombo E, Cassinerio E, Cesaretti C, Marcon A, Zanaboni L, Baldini M, Cappellini MD.

J Res Med Sci. 2010 Mar;15(2):100-6.

23.

Splenectomy and thrombosis: the case of thalassemia intermedia.

Taher AT, Musallam KM, Karimi M, El-Beshlawy A, Belhoul K, Daar S, Saned M, Cesaretti C, Cappellini MD.

J Thromb Haemost. 2010 Oct;8(10):2152-8. doi: 10.1111/j.1538-7836.2010.03940.x.

24.

Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* study.

Roghi A, Cappellini MD, Wood JC, Musallam KM, Patrizia P, Fasulo MR, Cesaretti C, Taher AT.

Ann Hematol. 2010 Jun;89(6):585-9. doi: 10.1007/s00277-009-0879-3. Epub 2009 Dec 17.

PMID:
20016898
25.

Novel human pathological mutations. Gene symbol: HBB. Disease: haemoglobin variant.

Refaldi C, Cesaretti C, Fasulo MR, Cappellini MD.

Hum Genet. 2009 Aug;126(2):343. No abstract available.

PMID:
19694029
26.

Novel human pathological mutations. Gene symbol: HBA2. Disease: Thalassemia alpha.

Refaldi C, Fasulo MR, Cesaretti C, Cappellini MD.

Hum Genet. 2009 Aug;126(2):342. No abstract available.

PMID:
19694027
27.

Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.

Di Pierro E, Besana V, Brancaleoni V, Fasulo MR, Cesaretti C, Cappellini MD.

Hum Genet. 2009 Apr;125(3):347. No abstract available.

PMID:
19320027
28.

Pregnancy outcome in patients with beta-thalassemia intermedia at two tertiary care centers, in Beirut and Milan.

Nassar AH, Naja M, Cesaretti C, Eprassi B, Cappellini MD, Taher A.

Haematologica. 2008 Oct;93(10):1586-7. doi: 10.3324/haematol.13152. Epub 2008 Aug 12. No abstract available.

29.

Prediction of 'awakening' and outcome in prolonged acute coma from severe traumatic brain injury: evidence for validity of short latency SEPs.

Amantini A, Grippo A, Fossi S, Cesaretti C, Piccioli A, Peris A, Ragazzoni A, Pinto F.

Clin Neurophysiol. 2005 Jan;116(1):229-35.

PMID:
15589201
30.

Oxidative stress in Systemic Sclerosis.

Simonini G, Cerinic MM, Generini S, Zoppi M, Anichini M, Cesaretti C, Pignone A, Falcini F, Lotti T, Cagnoni M.

Mol Cell Biochem. 1999 Jun;196(1-2):85-91.

PMID:
10448906

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