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Items: 33

1.

Dissecting the mechanisms of bone loss in Gorham-Stout disease.

Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D'Agostini M, Macchiaiolo M, De Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, Del Fattore A.

Bone. 2019 Sep 13:115068. doi: 10.1016/j.bone.2019.115068. [Epub ahead of print]

PMID:
31525474
2.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC.

Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Review.

PMID:
30677142
3.

Statins in children: A monocentric experience.

Buonuomo PS, Mastrogiorgio G, Macchiaiolo M, Rana I, Gonfiantini MV, Marafon DP, Bartuli A.

J Clin Lipidol. 2018 Sep - Oct;12(5):1326-1327. doi: 10.1016/j.jacl.2018.06.009. Epub 2018 Jun 26. No abstract available.

PMID:
30033004
4.

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.

Buonuomo PS, Macchiaiolo M, Leone G, Valente P, Mastrogiorgio G, Gnazzo M, Rana I, Gonfiantini MV, Gagliardi MG, Romano F, Bartuli A.

Eur J Prev Cardiol. 2018 Jul;25(10):1098-1105. doi: 10.1177/2047487318776836. Epub 2018 May 22.

PMID:
29785886
5.

Statin-associated myopathy in pediatric settings: Myth or fact?

Buonuomo PS, Macchiaiolo M, Mastrogiorgio G, Rana I, Gonfiantini MV, Bartuli A.

J Pediatr. 2017 Dec;191:279. doi: 10.1016/j.jpeds.2017.08.056. Epub 2017 Sep 28. No abstract available.

PMID:
28964429
6.

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S.

J Clin Lipidol. 2017 Nov - Dec;11(6):1329-1337.e3. doi: 10.1016/j.jacl.2017.08.017. Epub 2017 Sep 4.

PMID:
28951076
7.

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A.

Ital J Pediatr. 2017 Aug 2;43(1):65. doi: 10.1186/s13052-017-0383-7.

8.

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.

Cambiaso P, Galassi S, Palmiero M, Mastronuzzi A, Del Bufalo F, Capolino R, Cacchione A, Buonuomo PS, Gonfiantini MV, Bartuli A, Cappa M, Macchiaiolo M.

Am J Med Genet A. 2017 Sep;173(9):2353-2358. doi: 10.1002/ajmg.a.38308. Epub 2017 Jun 20.

PMID:
28631895
9.

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital.

De Lorenzo F, Macchiaiolo M, Carlevaris CM, Bartuli A.

Orphanet J Rare Dis. 2017 May 31;12(1):107. doi: 10.1186/s13023-017-0657-6.

10.

Eruptive Xanthomas in Lipoprotein Lipase Deficiency.

Buonuomo PS, Malamisura M, Macchiaiolo M, Rana I, Gonfiantini MV, Mastrogiorgio G, Bartuli A.

J Pediatr. 2017 Aug;187:330. doi: 10.1016/j.jpeds.2017.04.032. Epub 2017 May 18. No abstract available.

PMID:
28529016
11.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC.

Am J Med Genet A. 2017 Jul;173(7):1735-1738. doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

12.

Cervical lung herniation.

Bottaro G, Tomà P, Masci M, Rana I, Buonuomo PS, Macchiaiolo M.

Arch Dis Child. 2017 Oct;102(10):902. doi: 10.1136/archdischild-2016-311926. Epub 2017 Jan 18. No abstract available.

PMID:
28100462
13.

An 8-Month-Old Infant with Persistent Stridor.

Buonuomo PS, Macchiaiolo M, Bottero S, Secinaro A, Mastrogiorgio G, Scalzone M, Rana I, Tomà P, Bartuli A.

Pediatr Ann. 2016 Feb;45(2):e42-3. doi: 10.3928/00904481-20160111-01. No abstract available.

PMID:
26878180
14.

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB.

Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15.

PMID:
26857110
15.

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.

Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22.

16.

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Gonfiantini MV, Armando M, Pucciarini ML, Macchiaiolo M, Buonuomo PS, Diociaiuti A, Lepri FR, Sirleto P, Vicari S, Bartuli A.

Am J Med Genet A. 2015 Jul;167(7):1637-43. doi: 10.1002/ajmg.a.37041. Epub 2015 Mar 28.

PMID:
25820919
17.

Erythropoietic protoporphyria in a boy.

Buonuomo PS, Macchiaiolo M, Gonfiantini MV, Biolcati G, Pitisci A, Villani A, Bartuli A.

Arch Dis Child. 2015 Jan;100(1):7. doi: 10.1136/archdischild-2014-307082. Epub 2014 Nov 12. No abstract available.

PMID:
25392202
18.

Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis.

Tchidjou HK, Macchiaiolo M, Ariganello P, Carducci FC, De Vito R, De Benedetti F, D'Argenio P.

Blood Coagul Fibrinolysis. 2014 Oct;25(7):783-5. doi: 10.1097/MBC.0000000000000129.

PMID:
25251688
19.

Ligneous periodontal lesions in a young child with severe plasminogen deficiency: a case report.

Galeotti A, Uomo R, D'Antò V, Valletta R, Vittucci AC, Macchiaiolo M, Bartuli A.

Eur J Paediatr Dent. 2014 Jul;15(2 Suppl):213-4.

PMID:
25101505
20.

Question 2: Should steroids be used in the treatment of septic arthritis?

Macchiaiolo M, Buonuomo PS, Mennini M, Villani A, Bartuli A.

Arch Dis Child. 2014 Aug;99(8):785-7. doi: 10.1136/archdischild-2013-305617. Epub 2014 Apr 25. Review. No abstract available.

PMID:
24771305
21.

Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.

Buonuomo PS, Macchiaiolo M, Cambiaso P, Rana I, Digilio MC, Bartuli A.

Clin Dysmorphol. 2014 Apr;23(2):45-6. doi: 10.1097/MCD.0000000000000023. No abstract available.

PMID:
24477277
22.

Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A.

Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19.

PMID:
24357341
23.

Corneal arcus as first sign of familial hypercholesterolemia.

Macchiaiolo M, Buonuomo PS, Valente P, Rana I, Lepri FR, Gonfiantini MV, Bartuli A.

J Pediatr. 2014 Mar;164(3):670. doi: 10.1016/j.jpeds.2013.10.045. Epub 2013 Dec 4. No abstract available.

PMID:
24314439
24.

Persistent neck pain in a girl: Klippel-Feil syndrome.

Buonuomo PS, Macchiaiolo M, Colafati GS, Rana I, Tomà P, Gonfiantini MV, Bartuli A.

Arch Dis Child. 2014 Mar;99(3):290-1. doi: 10.1136/archdischild-2013-305203. Epub 2013 Nov 28. No abstract available.

PMID:
24288136
25.

Hypercapnic hypoventilation due to tracheobroncomalacia: the success of non-invasive respiratory support with continuous positive airway pressure.

Caldarelli V, Salerno T, Verrillo E, Pavone M, Macchiaiolo M, Soldini S, Bartuli A, Cutrera R.

Minerva Anestesiol. 2014 Feb;80(2):259-60. Epub 2013 Nov 13. No abstract available.

26.

An unusual presentation of tuberous sclerosis.

Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A.

Arch Dis Child. 2013 Mar;98(3):214-5. doi: 10.1136/archdischild-2012-302885. Epub 2013 Jan 12. No abstract available.

PMID:
23313916
27.

Acute rheumatic fever with chorea.

Buonuomo PS, Macchiaiolo M, Toscano A, De Benedetti F, Villani A, Bartuli A.

Arch Dis Child. 2013 Mar;98(3):203. doi: 10.1136/archdischild-2012-302732. Epub 2012 Nov 24. No abstract available.

PMID:
23178398
28.

Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009-10 season.

Romano M, Pandolfi E, Marino MG, Gesualdo F, Rizzo C, Carloni E, Macchiaiolo M, Tozzi AE.

Eur J Public Health. 2012 Dec;22(6):821-4. doi: 10.1093/eurpub/cks005. Epub 2012 Feb 7.

PMID:
22315460
29.

Homozygous familial hypercholesterolaemia.

Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A.

Lancet. 2012 Apr 7;379(9823):1330. doi: 10.1016/S0140-6736(11)61476-1. Epub 2012 Jan 27. No abstract available.

PMID:
22285056
30.

Too late to say it is too early--how to get children with non-cirrhotic metabolic diseases transplanted at the right time?

Macchiaiolo M, Bartuli A, McKiernan P, Dionisi-Vici C, de Ville de Goyet J.

Pediatr Transplant. 2012 Nov;16(7):671-4. doi: 10.1111/j.1399-3046.2011.01623.x. Epub 2011 Dec 5. No abstract available.

PMID:
22136444
31.

An unusual case of anisocoria by vegetal intoxication: a case report.

Macchiaiolo M, Vignati E, Gonfiantini MV, Grandin A, Romano MT, Salata M, Valentini D, Villani A.

Ital J Pediatr. 2010 Jul 20;36:50. doi: 10.1186/1824-7288-36-50.

32.

Sublingual immunotherapy in asthma and rhinoconjunctivitis; systematic review of paediatric literature.

Sopo SM, Macchiaiolo M, Zorzi G, Tripodi S.

Arch Dis Child. 2004 Jul;89(7):620-4. Review.

33.

Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss.

Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P.

Am J Med Genet. 1996 Mar 29;62(3):293-6.

PMID:
8882790

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