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Items: 1 to 50 of 100

1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2019 Oct 8. doi: 10.1002/humu.23929. [Epub ahead of print]

PMID:
31595648
2.

Pectus excavatum in neurofibromatosis type 1: single-center experience and review of the literature.

Miraglia E, Chello C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Sep 26. doi: 10.23736/S0392-0488.19.06456-3. [Epub ahead of print] No abstract available.

PMID:
31578835
3.

Ocular manifestations in Gorlin-Goltz syndrome.

Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A.

Orphanet J Rare Dis. 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6.

4.

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A.

Genes (Basel). 2019 Sep 4;10(9). pii: E675. doi: 10.3390/genes10090675.

5.

Lichen sclerosus and Sjögren's syndrome: two case reports.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Jul 26. doi: 10.23736/S0392-0488.19.06362-4. [Epub ahead of print] No abstract available.

PMID:
31355618
6.

Effectiveness of oral propranolol in a patient with neurofibromatosis type 1 and infantile hemangiomas.

Miraglia E, Schiavetti A, Varrasso G, Celli M, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Mar 29. doi: 10.23736/S0392-0488.19.06179-0. [Epub ahead of print] No abstract available.

PMID:
30924624
7.

A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1.

Moramarco A, Lambiase A, Mallone F, Miraglia E, Giustini S.

Clin Ter. 2019 Jan-Feb;170(1):e4-e9. doi: 10.7417/CT.2019.2101.

8.

A case of Cowden syndrome associated with melanoma: the role of the dermatologist.

Roberti V, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Feb 4. doi: 10.23736/S0392-0488.19.06272-2. [Epub ahead of print] No abstract available.

PMID:
30717572
9.

Retinal microvascular abnormalities in neurofibromatosis type 1.

Moramarco A, Miraglia E, Mallone F, Roberti V, Iacovino C, Bruscolini A, Giustolisi R, Giustini S.

Br J Ophthalmol. 2019 Nov;103(11):1590-1594. doi: 10.1136/bjophthalmol-2018-313002. Epub 2019 Jan 31.

PMID:
30705042
10.

Melanoma in neurofibromatosis type 1: an Italian single center experience.

Miraglia E, Lopez T, Iacovino C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Feb;154(1):89-91. doi: 10.23736/S0392-0488.17.05612-7. No abstract available.

PMID:
30616334
11.

Lipomas in Neurofibromatosis Type 1: a single-institution experience.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Oct 22. doi: 10.23736/S0392-0488.18.06044-3. [Epub ahead of print] No abstract available.

PMID:
30350556
12.

Enlightening chronic obstructive pulmonary disease through patients' and caregivers' narratives.

Gatti V, Banfi P, Centanni S, D'Antonio S, Giustini S, Piraino A, Zibellini M, Marini MG.

Int J Chron Obstruct Pulmon Dis. 2018 Oct 5;13:3095-3105. doi: 10.2147/COPD.S172214. eCollection 2018.

13.

Two rare disease in the same patient: neurofibromatosis type 1 and Madelung's disease.

Miraglia E, Fino P, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Oct 3. doi: 10.23736/S0392-0488.18.06166-7. [Epub ahead of print] No abstract available.

PMID:
30295449
14.

Nevus spilus in neurofibromatosis type 1: a single center experience.

Miraglia E, Fino P, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Oct 3. doi: 10.23736/S0392-0488.18.06088-1. [Epub ahead of print] No abstract available.

PMID:
30295445
15.

Giant plexiform neurofibroma in neurofibromatosis type 1.

Miraglia E, Lopez T, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Oct;153(5):740-741. doi: 10.23736/S0392-0488.17.05678-4. No abstract available.

PMID:
30246960
16.

Alexithymia and tic disorders: a study on a sample of children and their mothers.

Silvestri PR, Chiarotti F, Giustini S, Cardona F.

Eur Child Adolesc Psychiatry. 2019 Apr;28(4):461-470. doi: 10.1007/s00787-018-1209-x. Epub 2018 Jul 28.

PMID:
30056587
17.

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

Valentini V, Zelli V, Rizzolo P, Silvestri V, Alimandi M, D'Aloia MM, Giustini S, Calvieri S, Richetta AG, Monteleone G, Ottini L.

Clin Case Rep. 2018 Jun 2;6(7):1358-1363. doi: 10.1002/ccr3.1546. eCollection 2018 Jul.

18.

Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Jun 29. doi: 10.23736/S0392-0488.18.06076-5. [Epub ahead of print] No abstract available.

PMID:
29963809
19.

Lipomatosis of the caregiver: a new form of cutaneous lipomatosis.

Miraglia E, Fino P, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Jun 29. doi: 10.23736/S0392-0488.18.06055-8. [Epub ahead of print] No abstract available.

PMID:
29963805
20.

SD-OCT in NIR modality to diagnose retinal microvascular abnormalities in neurofibromatosis type 1.

Moramarco A, Giustini S, Miraglia E, Sacchetti M.

Graefes Arch Clin Exp Ophthalmol. 2018 Sep;256(9):1789-1790. doi: 10.1007/s00417-018-4028-3. Epub 2018 Jun 2. No abstract available.

PMID:
29860546
21.

Poliosis circumscripta in association with neurofibromatosis type 1: only a coincidence?

Miraglia E, Roberti V, Lopez T, Iacovino C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 May 16. doi: 10.23736/S0392-0488.18.05882-0. [Epub ahead of print] No abstract available.

PMID:
29781260
22.

Two sisters with neurofibromatosis type 1 and celiac disease.

Lopez T, Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Jun;153(3):444-446. doi: 10.23736/S0392-0488.17.05576-6. No abstract available.

PMID:
29766709
23.

Effectiveness of oral propranolol for infantile hemangiomas started after 5 months of age.

Lopez T, Miraglia E, Schiavetti A, Varrasso G, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 May 10. doi: 10.23736/S0392-0488.18.05958-8. [Epub ahead of print] No abstract available.

PMID:
29747482
24.

Multiple lipomas in a patient with Neurofibromatosis Type 1.

Miraglia E, Fino P, Lopez T, Iacovino C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Apr 19. doi: 10.23736/S0392-0488.18.05869-8. [Epub ahead of print] No abstract available.

PMID:
29683278
25.

Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas.

Miraglia E, Fino P, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Mar 29. doi: 10.23736/S0392-0488.18.05983-7. [Epub ahead of print] No abstract available.

PMID:
29600694
26.

A new distal phenotype of Madelung's disease.

Miraglia E, Fino P, Iacovino C, Lopez T, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Jun;154(3):371-372. doi: 10.23736/S0392-0488.18.05760-7. Epub 2018 Jan 24. No abstract available.

PMID:
29368851
27.

Shagreen-patch in a NF1 patient with a new missense mutation.

Lopez T, Paolino G, Miraglia E, Iacovino C, De Luca A, Donati P, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2019 Apr;154(2):223-224. doi: 10.23736/S0392-0488.18.05724-3. Epub 2018 Jan 24. No abstract available.

PMID:
29368848
28.

Pruritus in neurofibromatosis type 1.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2018 Feb;153(1):120-122. doi: 10.23736/S0392-0488.17.05457-8. No abstract available.

PMID:
29319283
29.

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1.

Moramarco A, Giustini S, Nofroni I, Mallone F, Miraglia E, Iacovino C, Calvieri S, Lambiase A.

Graefes Arch Clin Exp Ophthalmol. 2018 Feb;256(2):307-311. doi: 10.1007/s00417-017-3870-z. Epub 2017 Dec 30.

PMID:
29290016
30.

Cutaneous lipomatosis: diagnosing a rare condition.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Dec;152(6):678-680. doi: 10.23736/S0392-0488.16.05410-9. No abstract available.

PMID:
29050453
31.

Becker's nevus in neurofibromatosis type 1: a single center experience in Italy.

Miraglia E, Iacovino C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Oct;152(5):545-547. doi: 10.23736/S0392-0488.16.05374-8. No abstract available.

PMID:
28906096
32.

Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1.

Miraglia E, Moramarco A, Bianchini D, Iacovino C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Oct;152(5):543-544. doi: 10.23736/S0392-0488.16.05360-8. No abstract available.

PMID:
28906094
33.

Is there an association between neurofibromatosis type I and vitiligo?

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Aug;152(4):388-390. doi: 10.23736/S0392-0488.16.05311-6. No abstract available.

PMID:
28621115
34.

Neurofibromatosis type 1 and lichen sclerosus: an uncommon association.

Miraglia E, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2017 Feb;152(1):83-84. doi: 10.23736/S0392-0488.16.05175-0. No abstract available.

PMID:
27978612
35.

Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

Rossi A, Miraglia E, Fortuna MC, Calvieri S, Giustini S.

J Eur Acad Dermatol Venereol. 2017 Feb;31(2):367-370. doi: 10.1111/jdv.13864. Epub 2016 Aug 9.

PMID:
27504742
36.

Coexistence of neurofibromatosis type 1 and psoriasis: more than a simple association.

Miraglia E, Cantoresi F, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2016 Aug;151(4):447-8. No abstract available.

PMID:
27348325
37.

Chiari type 1 malformation in Neurofibromatosis type 1: experience of a center and review of the literature.

Miraglia E, Fabbrini G, Di Biasi C, Iacovino C, Ferrazzano G, Gualdi G, Calvieri S, Giustini S.

Clin Ter. 2016;167(1):e6-10. doi: 10.7417/T.2016.1912. Review.

PMID:
26980639
38.

An unusual manifestation in a patient with Neurofibromatosis type 1.

Miraglia E, Iacovino C, Cantisani C, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2016 Feb;151(1):129-30. No abstract available.

PMID:
26924035
39.

A Case of Iatrogenic Cutaneous Lipomatosis.

Miraglia E, Calvieri S, Giustini S.

Acta Dermatovenerol Croat. 2015;23(3):220-1. No abstract available.

PMID:
26476909
40.

Concurrent Use of Low-Dose Aspirin and Omega-3 Fatty Acids and Risk of Upper Gastrointestinal Complications: A Cohort Study with Nested Case-Control Analysis.

Roberto G, Simonetti M, Cricelli C, Cricelli I, Giustini SE, Parretti D, Lapi F.

Basic Clin Pharmacol Toxicol. 2016 Feb;118(2):136-42. doi: 10.1111/bcpt.12454. Epub 2015 Sep 11.

41.

Multiple painful papulo-nodular lesions: clinical pitfall.

Cantisani C, Miraglia E, Giustini S, Calvieri S.

Clin Ter. 2014;165(6):e423-5. doi: 10.7417/CT.2014.1786.

PMID:
25524199
42.

Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1.

Abdolrahimzadeh S, Felli L, Plateroti R, Plateroti AM, Giustini S, Calvieri S, Recupero SM.

Br J Ophthalmol. 2015 Jun;99(6):789-93. doi: 10.1136/bjophthalmol-2014-306062. Epub 2014 Dec 8.

PMID:
25488947
43.

Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases.

Giustini S, Miraglia E, Berardesca E, Milani M, Calvieri S.

Case Rep Dermatol. 2014 Sep 19;6(3):222-6. doi: 10.1159/000368182. eCollection 2014 Sep.

44.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.

Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.

45.

An unusual skin manifestation in a patient with Peutz-Jeghers Syndrome.

Miraglia E, Ambrifi M, Persechino F, Visconti B, Calvieri S, Giustini S.

Acta Dermatovenerol Croat. 2014;22(3):213-4. No abstract available.

PMID:
25230064
46.

Basal cell carcinomas in a young woman with Steinert's disease.

Miraglia E, Cantisani C, Giustini S, Ambrifi M, Soda G, Calvieri S.

Dermatol Online J. 2014 Aug 17;20(8). pii: 13030/qt15k425wz.

PMID:
25148278
47.

A rare association between neurofibromatosis type 1 and vulvar sarcoma.

Miraglia E, Pecorella I, Persechino F, Visconti B, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2014 Jun;149(3):374-6. No abstract available.

PMID:
24819769
48.

Electrochemotherapy: a valid treatment for Gorlin-Goltz syndrome.

Curatolo P, Miraglia E, Rotunno R, Calvieri S, Giustini S.

Acta Dermatovenerol Croat. 2013;21(2):132-3. No abstract available.

PMID:
24001423
49.

An uncommon association between lipomatous hypertrophy of the interatrial septum (LHIS) and Dercum's disease.

Miraglia E, Visconti B, Bianchini D, Calvieri S, Giustini S.

Eur J Dermatol. 2013 May-Jun;23(3):406-7. doi: 10.1684/ejd.2013.2016. No abstract available.

PMID:
23782949
50.

Complete remission of Merkel cell carcinoma treated with electrochemotherapy and etoposide.

Curatolo P, Rotunno R, Miraglia E, Mancini M, Calvieri S, Giustini S.

G Ital Dermatol Venereol. 2013 Jun;148(3):310-1. No abstract available.

PMID:
23670070

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