Uitto J - Search Results

1

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.

Kozák E, Fülöp K, Tőkési N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, Váradi A, Pomozi V. Kozák E, et al. Among authors: uitto j. Exp Dermatol. 2022 Apr;31(4):548-555. doi: 10.1111/exd.14498. Epub 2021 Nov 17. Exp Dermatol. 2022. PMID: 34758173 Free PMC article.

2

Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992.

Christiano AM, Lebwohl MG, Boyd CD, Uitto J. Christiano AM, et al. Among authors: uitto j. J Invest Dermatol. 1992 Nov;99(5):660-3. doi: 10.1111/1523-1747.ep12668156. J Invest Dermatol. 1992. PMID: 1431233 Free article. No abstract available.

3

Classification of pseudoxanthoma elasticum: report of a consensus conference.

Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA. Lebwohl M, et al. Among authors: uitto j. J Am Acad Dermatol. 1994 Jan;30(1):103-7. doi: 10.1016/s0190-9622(08)81894-4. J Am Acad Dermatol. 1994. PMID: 8277008 Review. No abstract available.

4

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.

Christiano AM, Uitto J. Christiano AM, et al. Among authors: uitto j. Exp Dermatol. 1996 Feb;5(1):1-11. doi: 10.1111/j.1600-0625.1996.tb00086.x. Exp Dermatol. 1996. PMID: 8624605 Review.

5

International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.

Uitto J, Boyd CD, Lebwohl MG, Moshell AN, Rosenbloom J, Terry S. Uitto J, et al. J Invest Dermatol. 1998 May;110(5):840-2. doi: 10.1046/j.1523-1747.1998.00188.x. J Invest Dermatol. 1998. PMID: 9579557 Free article. No abstract available.

6

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Ringpfeil F, et al. Among authors: uitto j. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6. doi: 10.1073/pnas.100041297. Proc Natl Acad Sci U S A. 2000. PMID: 10811882 Free PMC article.

7

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. Ringpfeil F, et al. Among authors: uitto j. Am J Hum Genet. 2001 Mar;68(3):642-52. doi: 10.1086/318807. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179012 Free PMC article.

8

Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

Uitto J, Pulkkinen L, Ringpfeil F. Uitto J, et al. Trends Mol Med. 2001 Jan;7(1):13-7. doi: 10.1016/s1471-4914(00)01869-4. Trends Mol Med. 2001. PMID: 11427982 Review.

9

Molecular genetics of pseudoxanthoma elasticum.

Ringpfeil F, Pulkkinen L, Uitto J. Ringpfeil F, et al. Among authors: uitto j. Exp Dermatol. 2001 Aug;10(4):221-8. doi: 10.1034/j.1600-0625.2001.100401.x. Exp Dermatol. 2001. PMID: 11493310 Review.

10

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. Pulkkinen L, et al. Among authors: uitto j. Hum Genet. 2001 Sep;109(3):356-65. doi: 10.1007/s004390100582. Hum Genet. 2001. PMID: 11702217

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