Thomas P - Search Results

1

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

Thomas P, Ye Y, Lightner E. Thomas P, et al. Hum Mol Genet. 1996 Nov;5(11):1809-12. doi: 10.1093/hmg/5.11.1809. Hum Mol Genet. 1996. PMID: 8923010

2

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Orchard P, White JS, Thomas PE, Mychalowych A, Kiseleva A, Hensley J, Allen B, Parker SCJ, Keegan CE. Orchard P, et al. Among authors: thomas pe. Hum Mol Genet. 2019 Mar 1;28(5):736-750. doi: 10.1093/hmg/ddy378. Hum Mol Genet. 2019. PMID: 30380057 Free PMC article.

3

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, Thorsson T, Innis JW. Russell MW, et al. Hum Mol Genet. 2014 Aug 15;23(16):4272-84. doi: 10.1093/hmg/ddu144. Epub 2014 Apr 2. Hum Mol Genet. 2014. PMID: 24694933

4

Cloning of a 2.5 kb murine bone sialoprotein promoter fragment and functional analysis of putative Osf2 binding sites.

Benson MD, Aubin JE, Xiao G, Thomas PE, Franceschi RT. Benson MD, et al. Among authors: thomas pe. J Bone Miner Res. 1999 Mar;14(3):396-405. doi: 10.1359/jbmr.1999.14.3.396. J Bone Miner Res. 1999. PMID: 10027904 Free article.

5

Identification of a homeodomain binding element in the bone sialoprotein gene promoter that is required for its osteoblast-selective expression.

Benson MD, Bargeon JL, Xiao G, Thomas PE, Kim A, Cui Y, Franceschi RT. Benson MD, et al. Among authors: thomas pe. J Biol Chem. 2000 May 5;275(18):13907-17. doi: 10.1074/jbc.275.18.13907. J Biol Chem. 2000. PMID: 10788516 Free article.

6

Molecular cloning of cDNAs encoding human GLEPP1, a membrane protein tyrosine phosphatase: characterization of the GLEPP1 protein distribution in human kidney and assignment of the GLEPP1 gene to human chromosome 12p12-p13.

Wiggins RC, Wiggins JE, Goyal M, Wharram BL, Thomas PE. Wiggins RC, et al. Among authors: thomas pe. Genomics. 1995 May 1;27(1):174-81. doi: 10.1006/geno.1995.1021. Genomics. 1995. PMID: 7665166

7

A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Lehoczky JA, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, Hughes ED, Saunders TL, Brihn L, Nadeau JH, Innis JW. Lehoczky JA, et al. Among authors: thomas pe. PLoS Genet. 2013;9(12):e1003967. doi: 10.1371/journal.pgen.1003967. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339789 Free PMC article.

8

Molecular cloning and characterization of human podocalyxin-like protein. Orthologous relationship to rabbit PCLP1 and rat podocalyxin.

Kershaw DB, Beck SG, Wharram BL, Wiggins JE, Goyal M, Thomas PE, Wiggins RC. Kershaw DB, et al. Among authors: thomas pe. J Biol Chem. 1997 Jun 20;272(25):15708-14. doi: 10.1074/jbc.272.25.15708. J Biol Chem. 1997. PMID: 9188463 Free article.

9

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW. Owens KM, et al. Am J Med Genet A. 2013 May;161A(5):1019-27. doi: 10.1002/ajmg.a.35843. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532960 Free article.

10

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW. Tayeh MK, et al. Among authors: thomas p. Am J Med Genet A. 2022 Jul;188(7):2209-2216. doi: 10.1002/ajmg.a.62752. Epub 2022 Apr 1. Am J Med Genet A. 2022. PMID: 35365979 Free PMC article.

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