1 - 25 of 164 results for author:"Dallapiccola B." in Literature citations
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| Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Basel-Vanagaite L., Dallapiccola B., Ramirez-Solis R., Segref A., Thiele H., Edwards A., Arends M.J., Miro X., White J.K., Desir J. et al. Am. J. Hum. Genet. 91:998-1010(2012) · Mapped (4) |
| A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Guida V., Ferese R., Rocchetti M., Bonetti M., Sarkozy A., Cecchetti S., Gelmetti V., Lepri F., Copetti M., Lamorte G. et al. Eur. J. Hum. Genet. 21:69-75(2013) · Mapped (2) |
| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Diggle C.P., Parry D.A., Logan C.V., Laissue P., Rivera C., Restrepo C.M., Fonseca D.J., Morgan J.E., Allanore Y., Fontenay M. et al. |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Caputo V., Cianetti L., Niceta M., Carta C., Ciolfi A., Bocchinfuso G., Carrani E., Dentici M.L., Biamino E., Belligni E. et al. Am. J. Hum. Genet. 90:161-169(2012) · UniProtKB (1) · Mapped (1) |
| Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Lederer D., Grisart B., Digilio M.C., Benoit V., Crespin M., Ghariani S.C., Maystadt I., Dallapiccola B., Verellen-Dumoulin C. Am. J. Hum. Genet. 90:119-124(2012) · UniProtKB (1) · Mapped (16) |
| Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. Guida V., Chiappe F., Ferese R., Usala G., Maestrale G., Iannascoli C., Bellacchio E., Mingarelli R., Digilio M.C., Marino B. et al. Clin. Genet. 80:591-594(2011) · Mapped (5) |
| Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. Digilio M.C., Bernardini L., Lepri F., Giuffrida M.G., Guida V., Baban A., Versacci P., Capolino R., Torres B., De Luca A. et al. Am. J. Med. Genet. A 155A:2196-2202(2011) · Mapped (7) |
| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. International Chromosome 22q11.2 Consortium Hum. Mutat. 32:1278-1289(2011) · Mapped (3) |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Sirmaci A., Spiliopoulos M., Brancati F., Powell E., Duman D., Abrams A., Bademci G., Agolini E., Guo S., Konuk B. et al. Am. J. Hum. Genet. 89:289-294(2011) · UniProtKB (1) · Mapped (19) |
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Micale L., Augello B., Fusco C., Selicorni A., Loviglio M.N., Silengo M.C., Reymond A., Gumiero B., Zucchetti F., D'Addetta E.V. et al. Orphanet J Rare Dis 6:38-38(2011) · Mapped (5) |
| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Lepri F., De Luca A., Stella L., Rossi C., Baldassarre G., Pantaleoni F., Cordeddu V., Williams B.J., Dentici M.L., Caputo V. et al. |
| Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. Pizzuti A., Bottillo I., Inzana F., Lanari V., Buttarelli F., Torrente I., Giallonardo A.T., De Luca A., Dallapiccola B. Neurogenetics 12:233-240(2011) · Mapped (10) |
| Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. Salazar M., Consoli F., Villegas V., Caicedo V., Maddaloni V., Daniele P., Caianiello G., Pachon S., Nunez F., Limongelli G. et al. Eur J Med Genet 54:306-309(2011) · Mapped (7) |
| Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Rooryck C., Diaz-Font A., Osborn D.P., Chabchoub E., Hernandez-Hernandez V., Shamseldin H., Kenny J., Waters A., Jenkins D., Kaissi A.A. et al. |
| Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Klopocki E., Lohan S., Brancati F., Koll R., Brehm A., Seemann P., Dathe K., Stricker S., Hecht J., Bosse K. et al. Am. J. Hum. Genet. 88:70-75(2011) · Mapped (13) |
| SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. Gervasini C., Grati F.R., Lalatta F., Tabano S., Gentilin B., Colapietro P., De Toffol S., Frontino G., Motta F., Maitz S. et al. Genet. Med. 12:634-640(2010) · Mapped (2) |
| New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. De Luca A., Sarkozy A., Ferese R., Consoli F., Lepri F., Dentici M.L., Vergara P., De Zorzi A., Versacci P., Digilio M.C. et al. Clin. Genet. 80:184-190(2011) · Mapped (17) |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Brancati F., Fortugno P., Bottillo I., Lopez M., Josselin E., Boudghene-Stambouli O., Agolini E., Bernardini L., Bellacchio E., Iannicelli M. et al. Am. J. Hum. Genet. 87:265-273(2010) · UniProtKB (1) · Mapped (6) |
| TBX2 gene duplication associated with complex heart defect and skeletal malformations. Radio F.C., Bernardini L., Loddo S., Bottillo I., Novelli A., Mingarelli R., Dallapiccola B. Am. J. Med. Genet. A 152A:2061-2066(2010) · Mapped (3) |
| Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Martinelli S., De Luca A., Stellacci E., Rossi C., Checquolo S., Lepri F., Caputo V., Silvano M., Buscherini F., Consoli F. et al. Am. J. Hum. Genet. 87:250-257(2010) · UniProtKB (1) |
| Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Guida V., Lepri F., Vijzelaar R., De Zorzi A., Versacci P., Digilio M.C., Marino B., De Luca A., Dallapiccola B. Dis. Markers 28:287-292(2010) · Mapped (6) |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Valente E.M., Logan C.V., Mougou-Zerelli S., Lee J.H., Silhavy J.L., Brancati F., Iannicelli M., Travaglini L., Romani S., Illi B. et al. |
| Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Bottillo I., Torrente I., Lanari V., Pinna V., Giustini S., Divona L., De Luca A., Dallapiccola B. Am. J. Med. Genet. A 152A:1467-1473(2010) · Mapped (10) |
| TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion. Prudente S., Baratta R., Andreozzi F., Morini E., Farina M.G., Nigro A., Copetti M., Pellegrini F., Succurro E., Di Pietrantonio L. et al. Diabetologia 53:1354-1361(2010) · Mapped (2) |
| Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Kornak U., Brancati F., Le Merrer M., Lichtenbelt K., Hohne W., Tinschert S., Garaci F.G., Dallapiccola B., Nurnberg P. Am. J. Med. Genet. A 152A:870-874(2010) · Mapped (3) |