Giunta C - Search Results

1

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, Colombi M. Rymen D, et al. Among authors: giunta c. Genes (Basel). 2019 Oct 25;10(11):843. doi: 10.3390/genes10110843. Genes (Basel). 2019. PMID: 31731524 Free PMC article.

2

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.

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

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

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

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

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Among authors: giunta c. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.

10

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Among authors: giunta c. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

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