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Items: 11

1.

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.

Brain Dev. 2019 Nov 6. pii: S0387-7604(19)30449-8. doi: 10.1016/j.braindev.2019.10.007. [Epub ahead of print]

PMID:
31706665
2.

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.

Brain Sci. 2019 Nov 7;9(11). pii: E313. doi: 10.3390/brainsci9110313.

3.

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Scarano E, Tassone M, Graziano C, Gibertoni D, Tamburrino F, Perri A, Gnazzo M, Severi G, Lepri F, Mazzanti L.

Mol Syndromol. 2019 May;10(3):130-138. doi: 10.1159/000496172. Epub 2019 Jan 15.

4.

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.

Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20.

PMID:
30569626
5.

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.

Am J Med Genet A. 2018 Sep;176(9):1991-1995. doi: 10.1002/ajmg.a.40386. Epub 2018 Aug 8.

PMID:
30088855
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.

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

PMID:
29785886
7.

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.

Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8.

PMID:
28884922
8.

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Sofia VM, Da Sacco L, Surace C, Tomaiuolo AC, Genovese S, Grotta S, Gnazzo M, Ciocca L, Petrocchi S, Alghisi F, Montemitro E, Martemucci L, Elce A, Lucidi V, Castaldo G, Angioni A.

Mol Med. 2016 Sep;22:300-309. doi: 10.2119/molmed.2016.00010. Epub 2016 May 26.

9.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M.

Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3.

10.

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.

Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Review.

PMID:
25281733
11.

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.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

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