Giunta C - Search Results

1

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS. Ayoub S, et al. Among authors: giunta c. Am J Med Genet A. 2020 May;182(5):994-1007. doi: 10.1002/ajmg.a.61523. Epub 2020 Feb 24. Am J Med Genet A. 2020. PMID: 32091183

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

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.

6

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

7

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Al-Hussain H, et al. Among authors: giunta c. Am J Med Genet A. 2004 Jan 1;124A(1):28-34. doi: 10.1002/ajmg.a.20326. Am J Med Genet A. 2004. PMID: 14679583 Review.

8

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.

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

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.

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