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Results: 1 to 20 of 43

1.

Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

Tran C, Hewson S, Steinberg SJ, Mercimek-Mahmutoglu S.

Pediatr Neurol. 2014 Aug;51(2):262-5. doi: 10.1016/j.pediatrneurol.2014.03.020. Epub 2014 Mar 28.

PMID:
25079577
2.

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS.

Clin Genet. 2015 Feb;87(2):141-7. doi: 10.1111/cge.12355. Epub 2014 Mar 6.

PMID:
24597975
3.

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ.

Mol Genet Metab. 2014 Apr;111(4):522-32. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23.

PMID:
24503136
4.

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis.

Wang XM, Yik WY, Zhang P, Lu W, Dranchak PK, Shibata D, Steinberg SJ, Hacia JG.

Stem Cell Res Ther. 2012 Oct 4;3(5):39. doi: 10.1186/scrt130.

5.

Human and great ape red blood cells differ in plasmalogen levels and composition.

Moser AB, Steinberg SJ, Watkins PA, Moser HW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG.

Lipids Health Dis. 2011 Jun 17;10:101. doi: 10.1186/1476-511X-10-101.

6.

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG.

J Cell Biochem. 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979.

7.

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions.

Watkins PA, Moser AB, Toomer CB, Steinberg SJ, Moser HW, Karaman MW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG.

BMC Physiol. 2010 Oct 8;10:19. doi: 10.1186/1472-6793-10-19.

8.

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2003 Dec 12 [updated 2012 May 10].

9.

X-Linked Adrenoleukodystrophy.

Steinberg SJ, Moser AB, Raymond GV.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
1999 Mar 26 [updated 2015 Apr 9].

10.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Moser AB, Steinberg SJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2001 Nov 16 [updated 2012 Sep 13].

11.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV.

Mol Genet Metab. 2009 Jul;97(3):212-20. doi: 10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 1.

PMID:
19423374
12.

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.

Cost NG, Ludwig AT, Wilcox DT, Rakheja D, Steinberg SJ, Baker LA.

J Pediatr Surg. 2009 Feb;44(2):451-4. doi: 10.1016/j.jpedsurg.2008.10.003.

PMID:
19231556
13.

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW.

J Inherit Metab Dis. 2009 Feb;32(1):109-19. doi: 10.1007/s10545-008-0969-8. Epub 2008 Dec 25.

PMID:
19127411
14.

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.

15.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16.

PMID:
19089597
16.

Romantic functioning and depressive symptoms among early adolescent girls: the moderating role of parental emotional availability.

Steinberg SJ, Davila J.

J Clin Child Adolesc Psychol. 2008 Apr;37(2):350-62. doi: 10.1080/15374410801955847.

PMID:
18470772
17.

Assessing romantic competence in adolescence: the Romantic Competence Interview.

Davila J, Steinberg SJ, Miller MR, Stroud CB, Starr LR, Yoneda A.

J Adolesc. 2009 Feb;32(1):55-75. doi: 10.1016/j.adolescence.2007.12.001. Epub 2008 Feb 19.

PMID:
18243298
18.

Commentary: defining and understanding adolescent romantic competence: progress, challenges, and implications.

Davila J, Stroud CB, Miller MR, Steinberg SJ.

J Clin Child Adolesc Psychol. 2007 Oct-Dec;36(4):534-40.

PMID:
18088212
19.

Primary renal neoplasia of dogs.

Bryan JN, Henry CJ, Turnquist SE, Tyler JW, Liptak JM, Rizzo SA, Sfiligoi G, Steinberg SJ, Smith AN, Jackson T.

J Vet Intern Med. 2006 Sep-Oct;20(5):1155-60.

PMID:
17063709
20.

Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules.

Ladasky JJ, Boyle S, Seth M, Li H, Pentcheva T, Abe F, Steinberg SJ, Edidin M.

J Immunol. 2006 Nov 1;177(9):6172-81.

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