1 - 25 of 42 results for author:"Zuffardi O." in Literature citations
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| Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. Salviati L., Trevisson E., Rodriguez Hernandez M.A., Casarin A., Pertegato V., Doimo M., Cassina M., Agosto C., Desbats M.A., Sartori G. et al. J. Med. Genet. 49:187-191(2012) · Mapped (2) |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Van Houdt J.K., Nowakowska B.A., Sousa S.B., van Schaik B.D., Seuntjens E., Avonce N., Sifrim A., Abdul-Rahman O.A., van den Boogaard M.J., Bottani A. et al. |
| Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Iascone M., Ciccone R., Galletti L., Marchetti D., Seddio F., Lincesso A.R., Pezzoli L., Vetro A., Barachetti D., Boni L. et al. Clin. Genet. 81:542-554(2012) |
| Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Gimelli S., Caridi G., Beri S., McCracken K., Bocciardi R., Zordan P., Dagnino M., Fiorio P., Murer L., Benetti E. et al. |
| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Brunetti-Pierri N., Paciorkowski A.R., Ciccone R., Della Mina E., Bonaglia M.C., Borgatti R., Schaaf C.P., Sutton V.R., Xia Z., Jelluma N. et al. Eur. J. Hum. Genet. 19:102-107(2011) · Mapped (1) |
| Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects. Resta N., Giorda R., Bagnulo R., Beri S., Della Mina E., Stella A., Piglionica M., Susca F.C., Guanti G., Zuffardi O. et al. Hum. Genet. 128:373-382(2010) · Mapped (6) |
| Refining the phenotype associated with MEF2C haploinsufficiency. Novara F., Beri S., Giorda R., Ortibus E., Nageshappa S., Darra F., Dalla Bernardina B., Zuffardi O., Van Esch H. Clin. Genet. 78:471-477(2010) · Mapped (4) |
| Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Ghezzi D., Sevrioukova I., Invernizzi F., Lamperti C., Mora M., D'Adamo P., Novara F., Zuffardi O., Uziel G., Zeviani M. Am. J. Hum. Genet. 86:639-649(2010) · UniProtKB (1) · Mapped (4) |
| High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. Gervasini C., Mottadelli F., Ciccone R., Castronovo P., Milani D., Scarano G., Bedeschi M.F., Belli S., Pilotta A., Selicorni A. et al. Eur. J. Hum. Genet. 18:768-775(2010) · Mapped (5) |
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Mei D., Marini C., Novara F., Bernardina B.D., Granata T., Fontana E., Parrini E., Ferrari A.R., Murgia A., Zuffardi O. et al. Epilepsia 51:647-654(2010) · Mapped (1) |
| Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. Novara F., Beri S., Bernardo M.E., Bellazzi R., Malovini A., Ciccone R., Cometa A.M., Locatelli F., Giorda R., Zuffardi O. Hum. Genet. 126:511-520(2009) · Mapped (6) |
| Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Coldren C.D., Lai Z., Shragg P., Rossi E., Glidewell S.C., Zuffardi O., Mattina T., Ivy D.D., Curfs L.M., Mattson S.N. et al. Neurogenetics 10:89-95(2009) · Mapped (2) |
| Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Marshall C.R., Young E.J., Pani A.M., Freckmann M.L., Lacassie Y., Howald C., Fitzgerald K.K., Peippo M., Morris C.A., Shane K. et al. Am. J. Hum. Genet. 83:106-111(2008) · Mapped (5) |
| Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? Rizzolio F., Bione S., Sala C., Tribioli C., Ciccone R., Zuffardi O., di Iorgi N., Maghnie M., Toniolo D. PLoS ONE 3:e1460-e1460(2008) · Mapped (7) |
| Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Bocciardi R., Giorda R., Buttgereit J., Gimelli S., Divizia M.T., Beri S., Garofalo S., Tavella S., Lerone M., Zuffardi O. et al. Hum. Mutat. 28:724-731(2007) · UniProtKB (1) |
| The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Panza E., Gimelli G., Passalacqua M., Cohen A., Gimelli S., Giglio S., Ghezzi C., Sparatore B., Heye B., Zuffardi O. et al. Int. J. Mol. Med. 19:429-435(2007) · Mapped (1) |
| Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Gimelli G., Gimelli S., Dimasi N., Bocciardi R., Battista E.D., Pramparo T., Zuffardi O. Eur. J. Hum. Genet. 15:76-80(2007) · UniProtKB (1) |
| Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Bione S., Rizzolio F., Sala C., Ricotti R., Goegan M., Manzini M.C., Battaglia R., Marozzi A., Vegetti W., Dalpra L. et al. Hum. Reprod. 19:2759-2766(2004) · UniProtKB (2) · Mapped (6) |
| Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Ventura M., Mudge J.M., Palumbo V., Burn S., Blennow E., Pierluigi M., Giorda R., Zuffardi O., Archidiacono N., Jackson M.S. et al. Genome Res. 13:2059-2068(2003) · UniProtKB (1) |
| Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Gimelli G., Giglio S., Zuffardi O., Alhonen L., Suppola S., Cusano R., Lo Nigro C., Gatti R., Ravazzolo R., Seri M. |
| Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., Zuffardi O. Am. J. Hum. Genet. 69:261-268(2001) · UniProtKB (3) |
| Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene. Cicirata F., Parenti R., Spinella F., Giglio S., Tuorto F., Zuffardi O., Gulisano M. Gene 251:123-130(2000) · UniProtKB (1) |
| A new submicroscopic deletion that refines the 9p region for sex reversal. Calvari V., Bertini V., De Grandi A., Peverali G., Zuffardi O., Ferguson-Smith M., Knudtzon J., Camerino G., Borsani G., Guioli S. Genomics 65:203-212(2000) · UniProtKB (6) |
| Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Reymond A., Volorio S., Merla G., Al-Maghtheh M., Zuffardi O., Bulfone A., Ballabio A., Zollo M. |
| Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes. Fogli A., Giglio S., Lo Nigro C., Zollo M., Viggiano L., Rocchi M., Archidiacono N., Zuffardi O., Carrozzo R. Cytogenet. Cell Genet. 86:225-232(1999) · UniProtKB (1) |