Bonapace G - Search Results

1

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.

Bonapace G, Waheed A, Shah GN, Sly WS. Bonapace G, et al. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12300-5. doi: 10.1073/pnas.0404764101. Epub 2004 Aug 4. Proc Natl Acad Sci U S A. 2004. PMID: 15295099 Free PMC article.

2

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Rebello G, Ramesar R, Vorster A, Roberts L, Ehrenreich L, Oppon E, Gama D, Bardien S, Greenberg J, Bonapace G, Waheed A, Shah GN, Sly WS. Rebello G, et al. Among authors: bonapace g. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6617-22. doi: 10.1073/pnas.0401529101. Epub 2004 Apr 16. Proc Natl Acad Sci U S A. 2004. PMID: 15090652 Free PMC article.

3

Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.

Datta R, Waheed A, Bonapace G, Shah GN, Sly WS. Datta R, et al. Among authors: bonapace g. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3437-42. doi: 10.1073/pnas.0813178106. Epub 2009 Feb 11. Proc Natl Acad Sci U S A. 2009. PMID: 19211803 Free PMC article.

4

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS. Shah GN, et al. Among authors: bonapace g. Hum Mutat. 2004 Sep;24(3):272. doi: 10.1002/humu.9266. Hum Mutat. 2004. PMID: 15300855

5

Successful DNA-based prenatal diagnosis of the 728+1 g-->t mutation at the exon 6-intron 6 junction in the carbonic anhydrase II gene.

Islam MR, Strisciuglio P, Bonapace G, Sly WS. Islam MR, et al. Among authors: bonapace g. Prenat Diagn. 1999 Feb;19(2):182-3. doi: 10.1002/(sici)1097-0223(199902)19:2<182::aid-pd474>3.0.co;2-2. Prenat Diagn. 1999. PMID: 10215082 No abstract available.

6

Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype.

Bonapace G, Iuliano F, Molica S, Peta A, Strisciuglio P. Bonapace G, et al. Biochim Biophys Acta. 2004 Aug 4;1689(3):179-81. doi: 10.1016/j.bbadis.2004.05.003. Biochim Biophys Acta. 2004. PMID: 15276643 Free article.

7

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.

Bonapace G, Concolino D, Formicola S, Strisciuglio P. Bonapace G, et al. J Med Genet. 2003 Dec;40(12):913-7. doi: 10.1136/jmg.40.12.913. J Med Genet. 2003. PMID: 14684690 Free PMC article. No abstract available.

8

Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.

Bonapace G, Ceravolo F, Piccirillo A, Duro G, Strisciuglio P, Concolino D. Bonapace G, et al. Am J Med Genet A. 2010 Nov;152A(11):2898-900. doi: 10.1002/ajmg.a.33671. Am J Med Genet A. 2010. PMID: 20949528 No abstract available.

9

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.

Concolino D, Muzzi G, Sestito S, Vega G, Bonapace G, Strisciuglio P. Concolino D, et al. Among authors: bonapace g. Eur J Pediatr. 2010 Feb;169(2):245-7. doi: 10.1007/s00431-009-1004-2. Epub 2009 Jun 11. Eur J Pediatr. 2010. PMID: 19517134

10

Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.

Concolino D, Rapsomaniki M, Disabella E, Sestito S, Pascale MG, Moricca MT, Bonapace G, Arbustini E, Strisciuglio P. Concolino D, et al. Among authors: bonapace g. BMC Pediatr. 2010 May 17;10:32. doi: 10.1186/1471-2431-10-32. BMC Pediatr. 2010. PMID: 20478016 Free PMC article.

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