Giunta C - Search Results

1

The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum.

Steinmann B, Giunta C. Steinmann B, et al. Among authors: giunta c. Am J Med Genet. 2000 Aug 14;93(4):342. doi: 10.1002/1096-8628(20000814)93:4<342::aid-ajmg16>3.0.co;2-7. Am J Med Genet. 2000. PMID: 10946364 No abstract available.

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

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

4

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

5

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.

6

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

7

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.

8

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.

9

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.

10

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.

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