Byers PH - Search Results

1

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Behrendt CA, Debus ES, von Kodolitsch Y, Powell RJ, Pepin M, Milewicz DM, Lawrence PF, Woo K. Shalhub S, et al. Among authors: byers ph. J Vasc Surg. 2019 Nov;70(5):1543-1554. doi: 10.1016/j.jvs.2019.01.069. Epub 2019 May 21. J Vasc Surg. 2019. PMID: 31126764 Free PMC article.

2

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Milewicz DM, et al. Among authors: byers ph. J Clin Invest. 1992 Jan;89(1):79-86. doi: 10.1172/JCI115589. J Clin Invest. 1992. PMID: 1729284 Free PMC article.

3

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.

4

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.

5

Abnormal fibrillin metabolism in bovine Marfan syndrome.

Potter KA, Hoffman Y, Sakai LY, Byers PH, Besser TE, Milewicz DM. Potter KA, et al. Among authors: byers ph. Am J Pathol. 1993 Mar;142(3):803-10. Am J Pathol. 1993. PMID: 8456941 Free PMC article.

6

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.

7

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

8

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Putnam EA, et al. Among authors: byers ph. Am J Med Genet. 1996 Mar 29;62(3):233-42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8882780

9

A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific.

Milewicz DM, Byers PH, Reveille J, Hughes AL, Duvic M. Milewicz DM, et al. Among authors: byers ph. J Mol Evol. 1996 Feb;42(2):117-23. doi: 10.1007/BF02198836. J Mol Evol. 1996. PMID: 8919863

10

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.

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