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Items: 12

1.

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Scott Schwoerer J, van Calcar S, Rice GM, Deline J.

Mol Genet Metab Rep. 2016 Jun 2;8:4-7. doi: 10.1016/j.ymgmr.2016.05.003. eCollection 2016 Sep.

2.

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.

Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J.

Genet Med. 2017 Mar;19(3):352-356. doi: 10.1038/gim.2016.104. Epub 2016 Aug 11.

PMID:
27513192
3.

Role of medical food in MMA.

Cunningham A, Frazier D, Marriage B, Mofidi S, Ogata B, Rohr F, Ueda K, Van Calcar S, Yannicelli S.

Genet Med. 2016 Apr;18(4):413-4. doi: 10.1038/gim.2016.11. Epub 2016 Mar 10. No abstract available.

PMID:
26963282
4.

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Scott Schwoerer J, Cooper G, van Calcar S.

Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun.

5.

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Schwoerer JA, Obernolte L, Van Calcar S, Heighway S, Bankowski H, Williams P, Rice G.

JIMD Rep. 2012;6:15-20. doi: 10.1007/8904_2011_95. Epub 2012 Jan 31.

6.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, Asthana S, Malhotra A, Adzhubei I, Greenbaum JA, Andrews RM, Flicek P, Boyle PJ, Cao H, Carter NP, Clelland GK, Davis S, Day N, Dhami P, Dillon SC, Dorschner MO, Fiegler H, Giresi PG, Goldy J, Hawrylycz M, Haydock A, Humbert R, James KD, Johnson BE, Johnson EM, Frum TT, Rosenzweig ER, Karnani N, Lee K, Lefebvre GC, Navas PA, Neri F, Parker SC, Sabo PJ, Sandstrom R, Shafer A, Vetrie D, Weaver M, Wilcox S, Yu M, Collins FS, Dekker J, Lieb JD, Tullius TD, Crawford GE, Sunyaev S, Noble WS, Dunham I, Denoeud F, Reymond A, Kapranov P, Rozowsky J, Zheng D, Castelo R, Frankish A, Harrow J, Ghosh S, Sandelin A, Hofacker IL, Baertsch R, Keefe D, Dike S, Cheng J, Hirsch HA, Sekinger EA, Lagarde J, Abril JF, Shahab A, Flamm C, Fried C, Hackermüller J, Hertel J, Lindemeyer M, Missal K, Tanzer A, Washietl S, Korbel J, Emanuelsson O, Pedersen JS, Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, Srinivasan KG, Sung WK, Ooi HS, Chiu KP, Foissac S, Alioto T, Brent M, Pachter L, Tress ML, Valencia A, Choo SW, Choo CY, Ucla C, Manzano C, Wyss C, Cheung E, Clark TG, Brown JB, Ganesh M, Patel S, Tammana H, Chrast J, Henrichsen CN, Kai C, Kawai J, Nagalakshmi U, Wu J, Lian Z, Lian J, Newburger P, Zhang X, Bickel P, Mattick JS, Carninci P, Hayashizaki Y, Weissman S, Hubbard T, Myers RM, Rogers J, Stadler PF, Lowe TM, Wei CL, Ruan Y, Struhl K, Gerstein M, Antonarakis SE, Fu Y, Green ED, Karaöz U, Siepel A, Taylor J, Liefer LA, Wetterstrand KA, Good PJ, Feingold EA, Guyer MS, Cooper GM, Asimenos G, Dewey CN, Hou M, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, Pardi F, Massingham T, Huang H, Zhang NR, Holmes I, Mullikin JC, Ureta-Vidal A, Paten B, Seringhaus M, Church D, Rosenbloom K, Kent WJ, Stone EA; NISC Comparative Sequencing Program; Baylor College of Medicine Human Genome Sequencing Center; Washington University Genome Sequencing Center; Broad Institute; Children's Hospital Oakland Research Institute, Batzoglou S, Goldman N, Hardison RC, Haussler D, Miller W, Sidow A, Trinklein ND, Zhang ZD, Barrera L, Stuart R, King DC, Ameur A, Enroth S, Bieda MC, Kim J, Bhinge AA, Jiang N, Liu J, Yao F, Vega VB, Lee CW, Ng P, Shahab A, Yang A, Moqtaderi Z, Zhu Z, Xu X, Squazzo S, Oberley MJ, Inman D, Singer MA, Richmond TA, Munn KJ, Rada-Iglesias A, Wallerman O, Komorowski J, Fowler JC, Couttet P, Bruce AW, Dovey OM, Ellis PD, Langford CF, Nix DA, Euskirchen G, Hartman S, Urban AE, Kraus P, Van Calcar S, Heintzman N, Kim TH, Wang K, Qu C, Hon G, Luna R, Glass CK, Rosenfeld MG, Aldred SF, Cooper SJ, Halees A, Lin JM, Shulha HP, Zhang X, Xu M, Haidar JN, Yu Y, Ruan Y, Iyer VR, Green RD, Wadelius C, Farnham PJ, Ren B, Harte RA, Hinrichs AS, Trumbower H, Clawson H, Hillman-Jackson J, Zweig AS, Smith K, Thakkapallayil A, Barber G, Kuhn RM, Karolchik D, Armengol L, Bird CP, de Bakker PI, Kern AD, Lopez-Bigas N, Martin JD, Stranger BE, Woodroffe A, Davydov E, Dimas A, Eyras E, Hallgrímsdóttir IB, Huppert J, Zody MC, Abecasis GR, Estivill X, Bouffard GG, Guan X, Hansen NF, Idol JR, Maduro VV, Maskeri B, McDowell JC, Park M, Thomas PJ, Young AC, Blakesley RW, Muzny DM, Sodergren E, Wheeler DA, Worley KC, Jiang H, Weinstock GM, Gibbs RA, Graves T, Fulton R, Mardis ER, Wilson RK, Clamp M, Cuff J, Gnerre S, Jaffe DB, Chang JL, Lindblad-Toh K, Lander ES, Koriabine M, Nefedov M, Osoegawa K, Yoshinaga Y, Zhu B, de Jong PJ.

Nature. 2007 Jun 14;447(7146):799-816.

7.

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome.

Heintzman ND, Stuart RK, Hon G, Fu Y, Ching CW, Hawkins RD, Barrera LO, Van Calcar S, Qu C, Ching KA, Wang W, Weng Z, Green RD, Crawford GE, Ren B.

Nat Genet. 2007 Mar;39(3):311-8. Epub 2007 Feb 4.

PMID:
17277777
8.

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.

Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, Ver Hoeve J, Wolff J, Harding CO.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33. Epub 2005 Jul 22.

9.

Direct isolation and identification of promoters in the human genome.

Kim TH, Barrera LO, Qu C, Van Calcar S, Trinklein ND, Cooper SJ, Luna RM, Glass CK, Rosenfeld MG, Myers RM, Ren B.

Genome Res. 2005 Jun;15(6):830-9. Epub 2005 May 17.

10.

A global transcriptional regulatory role for c-Myc in Burkitt's lymphoma cells.

Li Z, Van Calcar S, Qu C, Cavenee WK, Zhang MQ, Ren B.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8164-9. Epub 2003 Jun 13.

11.

Biotinidase catalyzes debiotinylation of histones.

Ballard TD, Wolff J, Griffin JB, Stanley JS, van Calcar S, Zempleni J.

Eur J Nutr. 2002 Apr;41(2):78-84.

PMID:
12083317
12.

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

Gillingham M, Van Calcar S, Ney D, Wolff J, Harding C.

J Inherit Metab Dis. 1999 Apr;22(2):123-31.

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