Bocciardi R - Search Results

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, Di Battista E, Pramparo T, Zuffardi O. Gimelli G, et al. Among authors: bocciardi r. Eur J Hum Genet. 2007 Jan;15(1):76-80. doi: 10.1038/sj.ejhg.5201719. Epub 2006 Oct 25. Eur J Hum Genet. 2007. PMID: 17063144

2

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. Yin L, et al. Among authors: bocciardi r. Eur J Hum Genet. 1994;2(4):272-80. doi: 10.1159/000472371. Eur J Hum Genet. 1994. PMID: 7704557

3

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

4

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

5

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

6

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. Bocciardi R, et al. Eur J Hum Genet. 2009 Mar;17(3):311-8. doi: 10.1038/ejhg.2008.178. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830232 Free PMC article.

7

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 MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Among authors: bocciardi r. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.

8

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, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM. Gimelli S, et al. Among authors: bocciardi r. Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9. Hum Mutat. 2010. PMID: 20960469 Free PMC article.

9

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Tassano E, Buttgereit J, Bader M, Lerone M, Divizia MT, Bocciardi R, Napoli F, Pala G, Sloan-Béna F, Gimelli S, Gimelli G. Tassano E, et al. Among authors: bocciardi r. PLoS One. 2013 Jun 21;8(6):e66048. doi: 10.1371/journal.pone.0066048. Print 2013. PLoS One. 2013. PMID: 23805197 Free PMC article.

10

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Bravenboer N, Micha D, Triffit JT, Bullock AN, Ravazollo R, Bocciardi R, di Rocco M, Netelenbos JC, Ten Dijke P, Sánchez-Duffhues G, Kaplan FS, Shore EM, Pignolo RJ, Seemann P, Ventura F, Beaujat G, Eekhoff EM, Pals G. Bravenboer N, et al. Among authors: bocciardi r. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.274. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604857 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

72 results

Search Page

Filters