Bove C - Search Results

1

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL. Wilson PJ, et al. Among authors: bove c. Hum Mol Genet. 1996 Feb;5(2):249-56. doi: 10.1093/hmg/5.2.249. Hum Mol Genet. 1996. PMID: 8824881

2

Mutational analysis of patients with neurofibromatosis 2.

MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al. MacCollin M, et al. Among authors: bove c. Am J Hum Genet. 1994 Aug;55(2):314-20. Am J Hum Genet. 1994. PMID: 7913580 Free PMC article.

3

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Slaugenhaupt SA, et al. Among authors: bove c. Am J Hum Genet. 1999 Sep;65(3):773-8. doi: 10.1086/302549. Am J Hum Genet. 1999. PMID: 10441585 Free PMC article.

4

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Sun M, et al. Among authors: bove c. Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471. Hum Mol Genet. 2000. PMID: 11030752

5

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO. Gasser T, et al. Among authors: bove cm. Mov Disord. 1996 Mar;11(2):163-6. doi: 10.1002/mds.870110208. Mov Disord. 1996. PMID: 8684386

6

Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients.

Plotkin SR, O'Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP. Plotkin SR, et al. Among authors: bove cm. J Neurosurg Spine. 2011 Apr;14(4):543-7. doi: 10.3171/2010.11.SPINE10350. Epub 2011 Feb 4. J Neurosurg Spine. 2011. PMID: 21294614

7

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. Acierno JS Jr, et al. Among authors: bove c. Genomics. 2001 Apr 15;73(2):203-10. doi: 10.1006/geno.2001.6526. Genomics. 2001. PMID: 11318610

8

Presymptomatic genetic testing in children for neurofibromatosis 2.

Twomey JG, Bove C, Cassidy D. Twomey JG, et al. Among authors: bove c. J Pediatr Nurs. 2008 Jun;23(3):183-94. doi: 10.1016/j.pedn.2006.11.002. J Pediatr Nurs. 2008. PMID: 18492547

9

A questionnaire study for 128 patients with Gaucher disease.

Mankin HJ, Trahan CA, Barnett NA, Laughead J, Bove CM, Pastores GM. Mankin HJ, et al. Among authors: bove cm. Clin Genet. 2006 Mar;69(3):209-17. doi: 10.1111/j.1399-0004.2006.00573.x. Clin Genet. 2006. PMID: 16542385

10

Factors perceived to influence parental decision-making regarding presymptomatic testing of children at risk for treatable adult-onset genetic disorders.

Cassidy DA, Bove CM. Cassidy DA, et al. Among authors: bove cm. Issues Compr Pediatr Nurs. 1998 Jan-Mar;21(1):19-34. doi: 10.1080/01460869808951125. Issues Compr Pediatr Nurs. 1998. PMID: 10188423

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

99 results

Search Page

Filters