16 results for author:"Bocciardi R." in Literature citations
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| 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. |
| A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Marini M., Bocciardi R., Gimelli S., Di Duca M., Divizia M.T., Baban A., Gaspar H., Mammi I., Garavelli L., Cerone R. et al. Genet. Med. 12:431-439(2010) · Mapped (4) |
| C-type natriuretic peptide and overgrowth. Bocciardi R., Ravazzolo R. Endocr Dev 14:61-66(2009) · Mapped (2) |
| Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Bocciardi R., Bordo D., Di Duca M., Di Rocco M., Ravazzolo R. Eur. J. Hum. Genet. 17:311-318(2009) · Mapped (5) |
| A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia. Cirmena G., Aliano S., Fugazza G., Bruzzone R., Garuti A., Bocciardi R., Bacigalupo A., Ravazzolo R., Ballestrero A., Sessarego M. Cancer Genet. Cytogenet. 183:105-108(2008) · Mapped (34) |
| 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) |
| 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) |
| Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Bocciardi R., Giorda R., Marigo V., Zordan P., Montanaro D., Gimelli S., Seri M., Lerone M., Ravazzolo R., Gimelli G. Hum. Mutat. 26:426-436(2005) · UniProtKB (1) |
| Hirschsprung associated GDNF mutations do not prevent RET activation. Borghini S., Bocciardi R., Bonardi G., Matera I., Santamaria G., Ravazzolo R., Ceccherini I. Eur. J. Hum. Genet. 10:183-187(2002) · Mapped (2) |
| Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Auricchio A., Griseri P., Carpentieri M.L., Betsos N., Staiano A., Tozzi A., Priolo M., Thompson H., Bocciardi R., Romeo G. et al. Am. J. Hum. Genet. 64:1216-1221(1999) · UniProtKB (1) |
| Sequence and characterisation of the RET proto-oncogene 5' flanking region: analysis of retinoic acid responsiveness at the transcriptional level. Patrone G., Puliti A., Bocciardi R., Ravazzolo R., Romeo G. FEBS Lett. 419:76-82(1997) · UniProtKB (1) |
| Frequency of RET mutations in long- and short-segment Hirschsprung disease. Seri M., Yin L., Barone V., Bolino A., Celli I., Bocciardi R., Pasini B., Ceccherini I., Lerone M., Kristoffersson U. et al. Hum. Mutat. 9:243-249(1997) · UniProtKB (1) |
| Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Romeo G., Ronchetto P., Luo Y., Barone V., Seri M., Ceccherini I., Pasini B., Bocciardi R., Lerone M., Kaarlainen H. et al. Nature 367:377-378(1994) · UniProtKB (1) |
| DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Ceccherini I., Hofstra R.M., Luo Y., Stulp R.P., Barone V., Stelwagen T., Bocciardi R., Nijveen H., Bolino A., Seri M. Oncogene 9:3025-3029(1994) · UniProtKB (1) |
| Exon structure and flanking intronic sequences of the human RET proto-oncogene. Ceccherini I., Bocciardi R., Luo Y., Pasini B., Hofstra R., Takahashi M., Romeo G. Biochem. Biophys. Res. Commun. 196:1288-1295(1993) · UniProtKB (1) |
| Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Yin L., Barone V., Seri M., Bolino A., Bocciardi R., Ceccherini I., Pasini B., Tocco T., Lerone M., Cywes S. et al. Eur. J. Hum. Genet. 2:272-280(1994) · UniProtKB (1) |