SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Artuso Rosangela        
 

1) High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.

Eur J Hum Genet. 2010 Oct;18(10):1133-40. Epub 2010 May 12.

 

2) Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

Frezzotti P, Pescucci C, Papa FT, Iester M, Mittica V, Motolese I, Peruzzi S, Artuso R, Longo I, Mencarelli MA, Mittica P, Motolese E, Renieri A. Br J Ophthalmol. 2011 May;95(5):624-6. Epub 2010 Sep 2.

 

3) Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?

Bucalossi A, Toraldo F, Tozzi M, Lenoci M, Castagnini C, Artuso R, Renieri A, Marotta G.

Biol Blood Marrow Transplant. 2010 Dec;16(12):1749-50. Epub 2010 Sep 19.

 

4) Investigation of modifier genes within copy number variations in Rett syndrome.

Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.

J Hum Genet. 2011 Jul;56(7):508-15. doi: 10.1038/jhg.2011.50. Epub 2011 May 19.
 

5) Advances in Alport syndrome diagnosis using next-generation sequencing.

Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M.

Eur J Hum Genet. 2011 Sep 7. doi: 10.1038/ejhg.2011.164.

 

6) Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.

Ariani F, Mari F, Amitrano S, Di Marco C, Artuso R, Scala E, Meloni I, Della Volpe R, Rossi A, van Bokhoven H, Renieri A.

Clin Genet. 2012 Jul 23.