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Items: 1 to 50 of 62

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.

Expanding the clinical spectrum associated with PACS2 mutations.

Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M.

Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28.

PMID:
30684285
3.

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC.

Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Review.

4.

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
5.

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
6.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N.

Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16.

7.

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Callea F, Giovannoni I, Sari S, Guldal E, Dalgic B, Akyol G, Sogo T, Al-Hussaini A, Maggiore G, Bartuli A, Boldrini R, Francalanci P, Bellacchio E.

Int J Mol Sci. 2017 Dec 15;18(12). pii: E2717. doi: 10.3390/ijms18122717.

8.

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G; their respective Scientific Societies.

Ital J Pediatr. 2017 Nov 3;43(1):100. doi: 10.1186/s13052-017-0418-0. Review.

9.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

10.

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
11.

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
12.

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.

13.

Nonalcoholic Fatty Liver Disease in Italian Children with Down Syndrome: Prevalence and Correlation with Obesity-Related Features.

Valentini D, Alisi A, di Camillo C, Sartorelli MR, Crudele A, Bartuli A, Nobili V, Villani A.

J Pediatr. 2017 Oct;189:92-97.e1. doi: 10.1016/j.jpeds.2017.05.077. Epub 2017 Jun 26.

PMID:
28662945
14.

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
15.

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.

16.

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
17.

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

Buonuomo PS, Iughetti L, Pisciotta L, Rabacchi C, Papadia F, Bruzzi P, Tummolo A, Bartuli A, Cortese C, Bertolini S, Calandra S.

Atherosclerosis. 2017 Jul;262:71-77. doi: 10.1016/j.atherosclerosis.2017.05.002. Epub 2017 May 4.

PMID:
28521186
18.

Pertussis in infants: an underestimated disease.

Vittucci AC, Spuri Vennarucci V, Grandin A, Russo C, Lancella L, Tozzi AE, Bartuli A, Villani A.

BMC Infect Dis. 2016 Aug 15;16(1):414. doi: 10.1186/s12879-016-1710-0.

19.

Lipid profiles in a large cohort of Italian children with Down syndrome.

Buonuomo PS, Bartuli A, Mastrogiorgio G, Vittucci A, Di Camillo C, Bianchi S, Pires Marafon D, Villani A, Valentini D.

Eur J Med Genet. 2016 Aug;59(8):392-5. doi: 10.1016/j.ejmg.2016.06.005. Epub 2016 Jun 23.

PMID:
27343989
20.

Novel plasminogen and hyaluronate sodium eye drop formulation for a patient with ligneous conjunctivitis.

Conforti FM, Di Felice G, Bernaschi P, Bartuli A, Bianco G, Simonetti A, Buzzonetti L, Valente P, Corsetti T.

Am J Health Syst Pharm. 2016 Apr 15;73(8):556-61. doi: 10.2146/ajhp150395.

PMID:
27045067
21.

Bartonella henselae in Italy: a rare seasonal infection.

Mennini M, Valentini D, DI Camillo C, Vittucci AC, Grandin A, Lancella L, Bartuli A, Villani A.

Minerva Pediatr. 2016 Mar 23. [Epub ahead of print]

PMID:
27008366
22.

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
23.

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
24.

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S.

J Clin Lipidol. 2015 Mar-Apr;9(2):265-70. doi: 10.1016/j.jacl.2014.10.003. Epub 2014 Oct 13.

PMID:
25911085
25.

(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.

26.

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
27.

Atherogenic dyslipidemia and cardiovascular risk factors in obese children.

D'Adamo E, Guardamagna O, Chiarelli F, Bartuli A, Liccardo D, Ferrari F, Nobili V.

Int J Endocrinol. 2015;2015:912047. doi: 10.1155/2015/912047. Epub 2015 Jan 12. Review.

28.

Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome.

Carsetti R, Valentini D, Marcellini V, Scarsella M, Marasco E, Giustini F, Bartuli A, Villani A, Ugazio AG.

Eur J Immunol. 2015 Mar;45(3):903-14. doi: 10.1002/eji.201445049. Epub 2014 Dec 28.

29.

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
30.

Short-term survival of hyperammonemic neonates treated with dialysis.

Picca S, Dionisi-Vici C, Bartuli A, De Palo T, Papadia F, Montini G, Materassi M, Donati MA, Verrina E, Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F.

Pediatr Nephrol. 2015 May;30(5):839-47. doi: 10.1007/s00467-014-2945-x. Epub 2014 Sep 4.

PMID:
25185886
31.

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
32.

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
33.

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
34.

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
35.

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
36.

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
37.

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.

38.

Coinfection in acute gastroenteritis predicts a more severe clinical course in children.

Valentini D, Vittucci AC, Grandin A, Tozzi AE, Russo C, Onori M, Menichella D, Bartuli A, Villani A.

Eur J Clin Microbiol Infect Dis. 2013 Jul;32(7):909-15. doi: 10.1007/s10096-013-1825-9. Epub 2013 Jan 31.

PMID:
23370970
39.

Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.

Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M.

Pediatr Dermatol. 2013 Jul-Aug;30(4):e65-7. doi: 10.1111/pde.12076. Epub 2013 Jan 17.

PMID:
23331056
40.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E.

Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11.

PMID:
23317684
41.

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
42.

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
43.

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
44.

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
45.

Preemptive liver transplantation in a child with familial hypercholesterolemia.

Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A.

Pediatr Transplant. 2011 Mar;15(2):E25-9. doi: 10.1111/j.1399-3046.2010.01383.x. Epub 2010 Sep 15. Review.

PMID:
20846238
46.

I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease.

Valenti L, Alisi A, Galmozzi E, Bartuli A, Del Menico B, Alterio A, Dongiovanni P, Fargion S, Nobili V.

Hepatology. 2010 Oct;52(4):1274-80. doi: 10.1002/hep.23823.

PMID:
20648474
47.

Severity of liver injury and atherogenic lipid profile in children with nonalcoholic fatty liver disease.

Nobili V, Alkhouri N, Bartuli A, Manco M, Lopez R, Alisi A, Feldstein AE.

Pediatr Res. 2010 Jun;67(6):665-70. doi: 10.1203/PDR.0b013e3181da4798.

PMID:
20496475
48.

[Multidisciplinary approach].

Bartuli A, Bertini E, Callea F, Cappa M, Caviglia S, D'argenio P, De Benedetti F, Digilio MC, Dionisi Vici C, El Hachem M, Emma F, Nobili V, Pagnotta G, Vignati E.

Minerva Pediatr. 2009 Dec;61(6):689-91. Italian. No abstract available.

PMID:
19935526
49.

Medical management and dialysis therapy for the infant with an inborn error of metabolism.

Picca S, Bartuli A, Dionisi-Vici C.

Semin Nephrol. 2008 Sep;28(5):477-80. doi: 10.1016/j.semnephrol.2008.05.007. Review.

PMID:
18790367
50.

Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia.

Deodato F, Boenzi S, Rizzo C, Abeni D, Caviglia S, Picca S, Bartuli A, Dionisi-Vici C.

Acta Paediatr Suppl. 2004 May;93(445):18-21.

PMID:
15176714

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