Giunta C - Search Results

1

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. Wenstrup RJ, et al. Among authors: giunta c. Am J Hum Genet. 2000 Jun;66(6):1766-76. doi: 10.1086/302930. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777716 Free PMC article.

2

[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome].

Laubach E, Ritter MM, Giunta C, Geiss HC, Hiller E, Superti-Furga A, Schwandt P, Steinmann B. Laubach E, et al. Among authors: giunta c. Internist (Berl). 1997 Dec;38(12):1225-30. doi: 10.1007/s001080050134. Internist (Berl). 1997. PMID: 9465327 Review. German. No abstract available.

3

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

4

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.

5

Diagnostic work for research purpose should be acknowledged.

Steinmann B, Giunta C. Steinmann B, et al. Among authors: giunta c. Eur J Surg. 1999 Oct;165(10):1003. doi: 10.1080/110241599750008189. Eur J Surg. 1999. PMID: 10574113 No abstract available.

6

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

7

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

8

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.

9

Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis.

Mátyás G, Giunta C, Steinmann B, Hossle JP, Hellwig R. Mátyás G, et al. Among authors: giunta c. Hum Mutat. 2002 Jan;19(1):58-68. doi: 10.1002/humu.10013. Hum Mutat. 2002. PMID: 11754104

10

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

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