Gnazzo M - Search Results

1

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: gnazzo m. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626

2

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: gnazzo m. 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

3

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B. Lepri FR, et al. Among authors: gnazzo m. BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14. BMC Med Genet. 2014. PMID: 24451042 Free PMC article.

4

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.

Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: gnazzo m. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.

5

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: gnazzo m. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922

6

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

De Bernardi ML, Ivanovski I, Caraffi SG, Maini I, Street ME, Bayat A, Zollino M, Lepri FR, Gnazzo M, Errichiello E, Superti-Furga A, Garavelli L. De Bernardi ML, et al. Among authors: gnazzo m. Am J Med Genet A. 2018 Sep;176(9):1991-1995. doi: 10.1002/ajmg.a.40386. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088855

7

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Alfieri P, Demaria F, Licchelli S, Santonastaso O, Caciolo C, Digilio MC, Sinibaldi L, Leoni C, Gnazzo M, Tartaglia M, Pasqualetti P, Vicari S. Alfieri P, et al. Among authors: gnazzo m. Brain Sci. 2019 Nov 7;9(11):313. doi: 10.3390/brainsci9110313. Brain Sci. 2019. PMID: 31703437 Free PMC article.

8

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.

Milone R, Gnazzo M, Stefanutti E, Serafin D, Novelli A. Milone R, et al. Among authors: gnazzo m. Brain Dev. 2020 Feb;42(2):192-198. doi: 10.1016/j.braindev.2019.10.007. Epub 2019 Nov 6. Brain Dev. 2020. PMID: 31706665

9

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. 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

10

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Baban A, Cicenia M, Magliozzi M, Gnazzo M, Cantarutti N, Silvetti MS, Adorisio R, Dallapiccola B, Bertini E, Novelli A, Drago F. Baban A, et al. Among authors: gnazzo m. Front Pediatr. 2020 Jul 24;8:374. doi: 10.3389/fped.2020.00374. eCollection 2020. Front Pediatr. 2020. PMID: 32793522 Free PMC article.

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