Byers P - Search Results

1

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

Kerwin W, Pepin M, Mitsumori L, Yarnykh V, Schwarze U, Byers P. Kerwin W, et al. Among authors: byers p. Int J Cardiovasc Imaging. 2008 Jun;24(5):519-28. doi: 10.1007/s10554-007-9283-z. Epub 2007 Nov 28. Int J Cardiovasc Imaging. 2008. PMID: 18043893

2

Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.

Byers PH. Byers PH. J Invest Dermatol. 1994 Nov;103(5 Suppl):47S-52S. doi: 10.1111/1523-1747.ep12399038. J Invest Dermatol. 1994. PMID: 7963684 Free article. Review.

3

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Milewicz DM, et al. Among authors: byers ph. Am J Hum Genet. 1993 Jul;53(1):62-70. Am J Hum Genet. 1993. PMID: 8317500 Free PMC article.

4

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

North KN, Whiteman DA, Pepin MG, Byers PH. North KN, et al. Among authors: byers ph. Ann Neurol. 1995 Dec;38(6):960-4. doi: 10.1002/ana.410380620. Ann Neurol. 1995. PMID: 8526472 Review.

5

Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta.

Steiner RD, Pepin M, Byers PH. Steiner RD, et al. Among authors: byers ph. J Pediatr. 1996 Apr;128(4):542-7. doi: 10.1016/s0022-3476(96)70367-0. J Pediatr. 1996. PMID: 8618190

6

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: byers ph. J Invest Dermatol. 1997 Mar;108(3):241-7. doi: 10.1111/1523-1747.ep12286441. J Invest Dermatol. 1997. PMID: 9036918 Free article.

7

Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies.

Pepin M, Atkinson M, Starman BJ, Byers PH. Pepin M, et al. Among authors: byers ph. Prenat Diagn. 1997 Jun;17(6):559-70. Prenat Diagn. 1997. PMID: 9203215

8

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Byers PH, et al. Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9295084

9

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. Among authors: byers ph. Am J Hum Genet. 1997 Dec;61(6):1276-86. doi: 10.1086/301641. Am J Hum Genet. 1997. PMID: 9399899 Free PMC article.

10

Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.

Collins MH, Schwarze U, Carpentieri DF, Kaplan P, Nathanson K, Meyer JS, Byers PH. Collins MH, et al. Among authors: byers ph. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):86-93. doi: 10.1007/s100249900095. Pediatr Dev Pathol. 1999. PMID: 9841712

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