Bartuli A - Search Results

1

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

Gnazzo M, Pascolini G, Parlapiano G, Petrizzelli F, Perrino D, Porco L, Bartuli A, Novelli A, Baban A. Gnazzo M, et al. Among authors: bartuli a. Clin Genet. 2024 Jul;106(1):109-113. doi: 10.1111/cge.14531. Epub 2024 Apr 25. Clin Genet. 2024. PMID: 38665048

2

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. Macchiaiolo M, et al. Among authors: bartuli a. Pediatr Transplant. 2012 Nov;16(7):671-4. doi: 10.1111/j.1399-3046.2011.01623.x. Epub 2011 Dec 5. Pediatr Transplant. 2012. PMID: 22136444 No abstract available.

3

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).

Averna M, Cefalù AB, Casula M, Noto D, Arca M, Bertolini S, Calandra S, Catapano AL, Tarugi P; LIPIGEN Group. Averna M, et al. Atheroscler Suppl. 2017 Oct;29:11-16. doi: 10.1016/j.atherosclerosissup.2017.07.001. Atheroscler Suppl. 2017. PMID: 28965615 Free article.

4

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. Callea F, et al. Among authors: bartuli a. Int J Mol Sci. 2017 Dec 15;18(12):2717. doi: 10.3390/ijms18122717. Int J Mol Sci. 2017. PMID: 29244742 Free PMC article.

5

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. Macchiaiolo M, et al. Among authors: bartuli a. Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357341

6

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. Buonuomo PS, et al. Among authors: bartuli a. Eur J Prev Cardiol. 2018 Jul;25(10):1098-1105. doi: 10.1177/2047487318776836. Epub 2018 May 22. Eur J Prev Cardiol. 2018. PMID: 29785886

7

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. Dentici ML, et al. Among authors: bartuli a. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.

8

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC. Gnazzo M, et al. Among authors: bartuli a. Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32124548

9

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: bartuli a. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066

10

[No title available]

[No authors listed] [No authors listed] PMID: 32576562

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