DEVOTO, MARCELLA

DEVOTO, MARCELLA  

DIPARTIMENTO DI MEDICINA TRASLAZIONALE E DI PRECISIONE  

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A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients 2013 Josine C. C., Widdershoven; Mark, Bowser; Molly B., Sheridan; Donna M., Mcdonald Mcginn; Elaine H., Zackai; Cynthia B., Solot; Richard E., Kirschner; Frits A., Beemer; Bernice E., Morrow; Devoto, Marcella; Beverly S., Emanuel
A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression 2005 Paola, Griseri; Tiziana, Bachetti; Francesca, Puppo; Francesca, Lantieri; Roberto, Ravazzolo; Devoto, Marcella; Isabella, Ceccherini
A common molecular basis for three inherited kidney stone diseases. 1996 Sarah E., Lloyd; Simon H. S., Pearce; Simon E., Fisher; Klaus, Steinmeyer; Blanche, Schwappach; Steven J., Scheinman; Brian, Harding; Alessandra, Bolino; Devoto, Marcella; Paul, Goodyer; Susan P. A., Rigden; Oliver, Wrong; Thomas J., Jentsch; Ian W., Craig; Rajesh V., Thakker
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. 1998 M. C., Rosatelli; A., Meloni; A., Meloni; Devoto, Marcella; A., Cao; H. S., Scott; P., Peterson; M., Heino; K. J., Krohn; K., Nagamine; J., Kudoh; N., Shimizu; S. E., Antonarakis
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report 2015 Kelsen, Judith R; Dawany, Noor; Martinez, Alejandro; Martinez, Alejuandro; Grochowski, Christopher M; Maurer, Kelly; Rappaport, Eric; Piccoli, David A; Baldassano, Robert N; Mamula, Petar; Sullivan, Kathleen E; Devoto, Marcella
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. 1993 S., Lyonnet; A., Bolino; A., Pelet; L., Abel; C., Nihoul Fekete; M. L., Briard; V., Mok Siu; H., Kaariainen; G., Martucciello; M., Lerone; A., Puliti; Yin, Luo; J., Weissenbach; Devoto, Marcella; A., Munnich; G., Romeo
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 2018 Chen, Ying; Gilbert, Melissa A; Grochowski, Christopher M; Mceldrew, Deborah; Llewellyn, Jessica; Waisbourd-Zinman, Orith; Hakonarson, Hakon; Bailey-Wilson, Joan E; Russo, Pierre; Wells, Rebecca G; Loomes, Kathleen M; Spinner, Nancy B; Devoto, Marcella
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene 2007 Hakon, Hakonarson; Struan F. A., Grant; Jonathan P., Bradfield; Marchand, Luc; Cecilia E., Kim; Joseph T., Glessner; Rosemarie, Grabs; Tracy, Casalunovo; Shayne P., Taback; C., Frackelton Edward; Margaret L., Lawson; J., Robinson Luke; Robert, Skraban; Lu, Yang; Rosetta M., Chiavacci; Charles A., Stanley; Susan E., Kirsch; Eric F., Rappaport; S., Orange Jordan; Dimitri S., Monos; Devoto, Marcella; Hui Qi, Qu; Constantin, Polychronakos
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations 2004 M., Pfister; H., Thiele; G., Van Camp; E., Fransen; F., Apaydin; O., Aydin; P., Leistenschneider; Devoto, Marcella; H. P., Zenner; N., Blin; P., Nurnberg; H., Ozkarakas; S., Kupka
A linkage study of schizophrenia to markers within Xp11 near the MAOB gene. 1997 J., Dann; L. E., Delisi; Devoto, Marcella; S., Laval; D. J., Nancarrow; G., Shields; A., Smith; J., Loftus; P., Peterson; A., Vita; M., Comazzi; G., Invernizzi; D. F., Levinson; D., Wildenauer; B. J., Mowry; D., Collier; J., Powell; R. R., Crowe; N. C., Andreasen; J. M., Silverman; R. C., Mohs; R. M., Murray; M. K., Walters; D. P., Lennon; T. J., Crow
A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. 1992 P., Ronchetto; J. J., Telleria Orriols; P., Fanen; L., Cremonesi; M., Ferrari; C., Magnani; M., Seia; M., Goossens; G., Romeo; Devoto, Marcella
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstraction maps to chromosome 8q23-24 2007 Deglincerti, A; DE GIORGIO, R; Cefle, K; Devoto, Marcella; Pippucci, T; Castegnaro, G; Panza, E; Barbara, G; Cogliandro, Rf; Mungan, Z; Palanduz, S; Corinaldesi, R; Romeo, G; Seri, M; Stanghellini, V.
A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study 2008 H., Hakonarson; H. Q., Qu; J. P., Bradfield; L., Marchand; C. E., Kim; J. T., Glessner; R., Grabs; T., Casalunovo; S. P., Taback; E. C., Frackelton; A. W., Eckert; K., Annaiah; M. L., Lawson; F. G., Otieno; E., Santa; J. L., Shaner; R. M., Smith; C. C., Onyiah; R., Skraban; R. M., Chiavacci; L. J., Robinson; C. A., Stanley; S. E., Kirsch; Devoto, Marcella; D. S., Monos; S. F. A., Grant; C., Polychronakos
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease 2002 P., Griseri; B., Pesce; G., Patrone; J., Osinga; F., Puppo; M., Sancandi; R., Hofstra; G., Romeo; R., Ravazzolo; Devoto, Marcella; I., Ceccherini
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. 1996 R., Fujita; E., Bingham; P., Forsythe; C., Mchenry; V., Aita; B. A., Navia; K., Dry; M., Segal; Devoto, Marcella; G., Bruns; A. F., Wright; J., Ott; P. A., Sieving; A., Swaroop
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. 2000 Lo Nigro, C; Cusano, R; Scaranari, M; Cinti, R; Forabosco, P; Morra, Vb; De Michele, G; Santoro, L; Davies, S; Hurst, J; Devoto, Marcella; Ravazzolo, R; Seri, M.
A second genetic locus for autosomal dominant polycystic kidney disease. 1988 G., Romeo; Devoto, Marcella; G., Costa; L., Roncuzzi; L., Catizone; P., Zucchelli; G. G., Germino; T., Keith; D. J., Weatherall; S. T., Reeders
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. 2000 Paola, Griseri; Monica, Sancandi; Giovanna, Patrone; Renata, Bocciardi; Robert, Hofstra; Roberto, Ravazzolo; Devoto, Marcella; Giovanni, Romeo; Isabella, Ceccherini
ADHD genetics: 2007 update 2007 Josephine, Elia; Devoto, Marcella
Advances in family-based association analysis. Introduction. 2008 D., Gordon; Devoto, Marcella