Giunta C - Search Results

1

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M. Giunta C, et al. Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15. Genet Med. 2018. PMID: 28617417 Free PMC article.

2

Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.

Jarisch A, Giunta C, Zielen S, König R, Steinmann B. Jarisch A, et al. Among authors: giunta c. Am J Med Genet. 1998 Aug 6;78(5):455-60. doi: 10.1002/(sici)1096-8628(19980806)78:5<455::aid-ajmg11>3.0.co;2-e. Am J Med Genet. 1998. PMID: 9714013

3

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. Giunta C, et al. J Bone Joint Surg Am. 1999 Feb;81(2):225-38. doi: 10.2106/00004623-199902000-00010. J Bone Joint Surg Am. 1999. PMID: 10073586 Review.

4

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

5

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Giunta C, et al. Am J Med Genet. 2002 May 15;109(4):284-90. doi: 10.1002/ajmg.10373. Am J Med Genet. 2002. PMID: 11992482

6

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.

7

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

8

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C. Yiş U, et al. Among authors: giunta c. Neuromuscul Disord. 2008 Mar;18(3):210-4. doi: 10.1016/j.nmd.2007.11.006. Epub 2007 Dec 26. Neuromuscul Disord. 2008. PMID: 18155911

9

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.

10

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.

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