Terry SF - Search Results

1

Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.

Kringen MK, Stormo C, Berg JP, Terry SF, Vocke CM, Rizvi S, Hendig D, Piehler AP. Kringen MK, et al. Among authors: terry sf. Mol Genet Genomic Med. 2015 May;3(3):233-7. doi: 10.1002/mgg3.137. Epub 2015 Mar 8. Mol Genet Genomic Med. 2015. PMID: 26029710 Free PMC article.

2

Pseudoxanthoma elasticum: genetic diagnostic markers.

Pfendner EG, Uitto J, Gerard GF, Terry SF. Pfendner EG, et al. Among authors: terry sf. Expert Opin Med Diagn. 2008 Jan;2(1):63-79. doi: 10.1517/17530059.2.1.63. Expert Opin Med Diagn. 2008. PMID: 23485117

3

The Human Face of ABCC6.

Terry SF. Terry SF. FEBS Lett. 2020 Dec;594(23):4151-4157. doi: 10.1002/1873-3468.14002. Epub 2020 Dec 8. FEBS Lett. 2020. PMID: 33211322 Free article. Review.

4

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.

Moitra K, Garcia S, Jaldin M, Etoundi C, Cooper D, Roland A, Dixon P, Reyes S, Turan S, Terry S, Dean M. Moitra K, et al. Int J Mol Sci. 2017 Jul 11;18(7):1488. doi: 10.3390/ijms18071488. Int J Mol Sci. 2017. PMID: 28696355 Free PMC article. Review.

5

Disease advocacy organizations catalyze translational research.

Terry SF. Terry SF. Front Genet. 2013 Jun 4;4:101. doi: 10.3389/fgene.2013.00101. eCollection 2013. Front Genet. 2013. PMID: 23761807 Free PMC article.

6

PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Uitto J, et al. Among authors: terry sf. Expert Opin Orphan Drugs. 2014 Jun 1;2(6):567-577. doi: 10.1517/21678707.2014.908702. Expert Opin Orphan Drugs. 2014. PMID: 25383264 Free PMC article.

7

Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.

Ralph D, Allawh R, Terry IF, Terry SF, Uitto J, Li Q. Ralph D, et al. Among authors: terry if, terry sf. Int J Dermatol Venereol. 2020 Dec;3(4):198-204. doi: 10.1097/jd9.0000000000000126. Int J Dermatol Venereol. 2020. PMID: 34925949 Free PMC article.

8

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

Plomp AS, Bergen AA, Florijn RJ, Terry SF, Toonstra J, van Dijk MR, de Jong PT. Plomp AS, et al. Among authors: terry sf. Genet Med. 2009 Dec;11(12):852-8. doi: 10.1097/GIM.0b013e3181c00a96. Genet Med. 2009. PMID: 19904211 Free article.

9

Advocacy groups as research organizations: the PXE International example.

Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Terry SF, et al. Among authors: terry pf. Nat Rev Genet. 2007 Feb;8(2):157-64. doi: 10.1038/nrg1991. Nat Rev Genet. 2007. PMID: 17230202 Review.

10

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. Among authors: terry pf, terry sf. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.

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