Bocciardi R - Search Results

1

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Bertamino M, Severino M, Schiaffino MC, Garrè ML, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M. Bertamino M, et al. Among authors: bocciardi r. Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239063 Review.

2

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. Patrone G, et al. Among authors: bocciardi r. FEBS Lett. 1997 Dec 8;419(1):76-82. doi: 10.1016/s0014-5793(97)01435-x. FEBS Lett. 1997. PMID: 9426223 Free article.

3

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.

Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I. Griseri P, et al. Among authors: bocciardi r. Eur J Hum Genet. 2000 Sep;8(9):721-4. doi: 10.1038/sj.ejhg.5200521. Eur J Hum Genet. 2000. PMID: 10980580

4

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: bocciardi r. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622

5

A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation.

Zordan P, Ravazzolo R, Bocciardi R. Zordan P, et al. Among authors: bocciardi r. Int J Mol Med. 2005 Aug;16(2):325-31. Int J Mol Med. 2005. PMID: 16012770

6

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. Bocciardi R, et al. Hum Mutat. 2005 Nov;26(5):426-36. doi: 10.1002/humu.20235. Hum Mutat. 2005. PMID: 16145689

7

The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice.

Zordan P, Tavella S, Brizzolara A, Biticchi R, Ceccherini I, Garofalo S, Ravazzolo R, Bocciardi R. Zordan P, et al. Among authors: bocciardi r. Int J Mol Med. 2006 Oct;18(4):601-8. Int J Mol Med. 2006. PMID: 16964411

8

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

Musso M, Bocciardi R, Parodi S, Ravazzolo R, Ceccherini I. Musso M, et al. Among authors: bocciardi r. J Mol Diagn. 2006 Nov;8(5):544-50. doi: 10.2353/jmoldx.2006.060058. J Mol Diagn. 2006. PMID: 17065422 Free PMC article.

9

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 MT, Beri S, Garofalo S, Tavella S, Lerone M, Zuffardi O, Bader M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Hum Mutat. 2007 Jul;28(7):724-31. doi: 10.1002/humu.20511. Hum Mutat. 2007. PMID: 17373680

10

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. Cirmena G, et al. Among authors: bocciardi r. Cancer Genet Cytogenet. 2008 Jun;183(2):105-8. doi: 10.1016/j.cancergencyto.2008.02.005. Cancer Genet Cytogenet. 2008. PMID: 18503828

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