Giunta C - Search Results

1

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases.

Kraenzlin ME, Kraenzlin CA, Meier C, Giunta C, Steinmann B. Kraenzlin ME, et al. Among authors: giunta c. Clin Chem. 2008 Sep;54(9):1546-53. doi: 10.1373/clinchem.2008.105262. Epub 2008 Jul 24. Clin Chem. 2008. PMID: 18653826 Free article.

2

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Lindert U, Kraenzlin M, Campos-Xavier AB, Baumgartner MR, Bonafé L, Giunta C, Rohrbach M. Lindert U, et al. Among authors: giunta c. Orphanet J Rare Dis. 2015 Aug 27;10:104. doi: 10.1186/s13023-015-0315-9. Orphanet J Rare Dis. 2015. PMID: 26306627 Free PMC article.

3

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.

Giunta C, Steinmann B. Giunta C, et al. Hum Mutat. 2000 Aug;16(2):176-7. doi: 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10923041

4

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Giunta C, et al. Am J Med Genet A. 2005 Mar 1;133A(2):158-64. doi: 10.1002/ajmg.a.30529. Am J Med Genet A. 2005. PMID: 15666309 Review.

5

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B. Giunta C, et al. Am J Hum Genet. 2008 Jun;82(6):1290-305. doi: 10.1016/j.ajhg.2008.05.001. Am J Hum Genet. 2008. PMID: 18513683 Free PMC article.

6

Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.

Giunta C, Steinmann B. Giunta C, et al. Hum Genet. 2008 Jun;123(5):540. Hum Genet. 2008. PMID: 20960610 No abstract available.

7

Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

Giunta C, Steinmann B. Giunta C, et al. Am J Med Genet. 2000 Jan 3;90(1):72-9. doi: 10.1002/(sici)1096-8628(20000103)90:1<72::aid-ajmg13>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10602121

8

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B. Giunta C, et al. Am J Med Genet A. 2008 May 15;146A(10):1341-6. doi: 10.1002/ajmg.a.32213. Am J Med Genet A. 2008. PMID: 18409203 No abstract available.

9

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

Giunta C, Randolph A, Steinmann B. Giunta C, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. doi: 10.1016/j.ymgme.2005.04.014. Epub 2005 Jun 24. Mol Genet Metab. 2005. PMID: 15979919

10

Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.

Giunta C, Bürer-Chambaz C, Steinmann B. Giunta C, et al. Hum Genet. 2009 Apr;125(3):346. Hum Genet. 2009. PMID: 19320026 No abstract available.

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