Schwarze U - Search Results

1

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. Morello R, et al. Among authors: schwarze u. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.

2

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.

Smith LT, Schwarze U, Goldstein J, Byers PH. Smith LT, et al. Among authors: schwarze u. J Invest Dermatol. 1997 Mar;108(3):241-7. doi: 10.1111/1523-1747.ep12286441. J Invest Dermatol. 1997. PMID: 9036918 Free article.

3

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

Schwarze U, Goldstein JA, Byers PH. Schwarze U, et al. Am J Hum Genet. 1997 Dec;61(6):1276-86. doi: 10.1086/301641. Am J Hum Genet. 1997. PMID: 9399899 Free PMC article.

4

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.

Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH. Gilchrist D, et al. Among authors: schwarze u. Am J Med Genet. 1999 Feb 12;82(4):305-11. Am J Med Genet. 1999. PMID: 10051163

5

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

Schwarze U, Starman BJ, Byers PH. Schwarze U, et al. Am J Hum Genet. 1999 Aug;65(2):336-44. doi: 10.1086/302512. Am J Hum Genet. 1999. PMID: 10417276 Free PMC article.

6

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Schwarze U, et al. Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27. Am J Hum Genet. 2001. PMID: 11577371 Free PMC article.

7

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.

Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH. Pace JM, et al. Among authors: schwarze u. J Med Genet. 2002 Jan;39(1):23-9. doi: 10.1136/jmg.39.1.23. J Med Genet. 2002. PMID: 11826020 Free PMC article.

8

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS. Takahara K, et al. Among authors: schwarze u. Am J Hum Genet. 2002 Sep;71(3):451-65. doi: 10.1086/342099. Epub 2002 Jul 17. Am J Hum Genet. 2002. PMID: 12145749 Free PMC article.

9

Gene targeting in stem cells from individuals with osteogenesis imperfecta.

Chamberlain JR, Schwarze U, Wang PR, Hirata RK, Hankenson KD, Pace JM, Underwood RA, Song KM, Sussman M, Byers PH, Russell DW. Chamberlain JR, et al. Among authors: schwarze u. Science. 2004 Feb 20;303(5661):1198-201. doi: 10.1126/science.1088757. Science. 2004. PMID: 14976317

10

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. Schwarze U, et al. Am J Hum Genet. 2004 May;74(5):917-30. doi: 10.1086/420794. Epub 2004 Apr 9. Am J Hum Genet. 2004. PMID: 15077201 Free PMC article.

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