|
2)
Is HSD17B1 a new sex reversal gene in human?
Katzaki E, Papa FT, Mucciolo M,
Uliana V, Renieri A.
Mol Cell Endocrinol. 2009 Dec 10;313(1-2):70; author reply 71.
3)
Alport syndrome and leiomyomatosis: the first
deletion extending beyond COL4A6 intron 2.
Uliana V, Marcocci E, Mucciolo M, Meloni I,
Izzi C, Manno C, Bruttini M, Mari F, Scolari F, Renieri A, Salviati L.
Pediatr
Nephrol. 2011 May;26(5):717-24.
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.
5)
Corpus callosum abnormalities,
intellectual disability, speech impairment, and autism in patients with
haploinsufficiency of ARID1B.
Halgren C, Kjaergaard S, Bak M,
Hansen C, El-Schich Z, Anderson C, Henriksen K, Hjalgrim H, Kirchhoff M,
Bijlsma E, Nielsen M, den Hollander N, Ruivenkamp C, Isidor B, Le
Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid
BM, Andrieux J, Dieux A, Tommerup N, Bache I.
Clin Genet.
2011 Jul 29.
5)
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.
|