|
1)
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.
2)
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.
3)
Mutation spectrum of MLL2 in a
cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A,
Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta
EV, Belligni E, Calcagně A, Digilio MC, Dallapiccola B, Faravelli F,
Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S,
Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D,
Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA,
Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A,
Gabrielli O, Zelante L, Merla G.
Orphanet J Rare
Dis. 2011 Jun 9;6:38.
4)
iPS cells to model CDKL5-related disorders.
Amenduni M, De Filippis R, Cheung AY, Disciglio V,
Epistolato MC, Ariani F, Mari F, Mencarelli MA, Hayek Y, Renieri
A, Ellis J, Meloni I.
Eur J Hum Genet. 2011
Dec;19(12):1246-55. doi: 10.1038/ejhg.2011.131.
5)
p53 Arg72Pro and MDM2 309 SNPs in hereditary
retinoblastoma.
Epistolato MC, Disciglio V, Livide G, Berchialla
P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De
Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M,
Renieri A, Giachino D.
J Hum Genet.
2011 Sep;56(9):685-6.
6)
Mirror extreme BMI phenotypes associated with gene
dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L,
Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND,
Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de
Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM,
Gratacňs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le
Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro
Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y,
Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S,
Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O,
Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C,
Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue
MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V,
Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS,
Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher
R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli
G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L,
Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S,
Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers
NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E,
Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD,
Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T,
Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F,
Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt
R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis
A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM,
Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E,
Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U,
Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N,
Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van
Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S,
Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer
SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.
Nature.
2011 Aug 31;478(7367):97-102.
7)
Creatine transporter defect
diagnosed by proton NMR spectroscopy in males with intellectual
disability.
Mencarelli MA, Tassini M, Pollazzon M, Vivi
A, Calderisi M, Falco M, Fichera M, Monti L, Buoni S, Mari F, Engelke U,
Wevers RA, Hayek J, Renieri A.
Am J Med
Genet A. 2011 Oct;155A(10):2446-52.
8)
Expanding the phenotype associated with FOXG1
mutations and in vivo FoxG1 chromatin-binding dynamics.
De Filippis R, Pancrazi L,
Bjřrgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F,
Meloni I, Ariani F, Mencarelli M, Hayek J, Renieri A, Costa M,
Mari F.
Clin Genet.
2011 Nov 17. doi: 10.1111/j.1399-0004.2011.01810.x. [Epub ahead of
print]
9)
Periventricular heterotopia with white matter
abnormalities associated with 6p25 deletion.
Cellini E, Disciglio V, Novara F, Barkovich
JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R.
Am J Med Genet A. 2012 Jul;158A(7):1793-7
10)
Xq28 duplications including MECP2 in five females:
Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI,
Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M,
Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki
E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C,
Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B,
Mínguez M, Renieri A, Ruivenkamp CA.
Eur
J Med Genet. 2012 Jun
11)
New understandings of the genetic basis of
isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E,
Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central
Hypogonadism Study Group of the Italian Societies of Endocrinology
and Pediatric Endocrinology and Diabetes.
Asian J Androl.
2012 Jan
12)
Epigenetic and copy number variation analysis in
retinoblastoma by MS-MLPA.
Livide G, Epistolato MC, Amenduni M, Disciglio
V, Marozza A, Mencarelli MA, Toti P, Lazzi S, Hadjistilianou T, De
Francesco S, D'Ambrosio A, Renieri A, Ariani F.
Pathol
Oncol Res. 2012 Jul
|