StevenSteinbergMD

PubMed

• 12 citations
  Is Your Career Hurting You? The Ergonomic Consequences of Surgery in 701 Urologists Worldwide.
  Granville L. Lloyd, Amanda S. J. Chung, Steven Steinberg, Mark D. Sawyer, Daniel H. Williams, Douglas M. Overbey> ;Journal of Endourology. 2019 Dec 10
• Letter to the Editor RE: Gómez-Núñez, Editorial Comment on: Is Your Career Hurting You? The Ergonomic Consequences of Surgery in 701 Urologists Worldwide by Lloyd et a...
  Granville L. Lloyd, Amanda S. J. Chung, Steven Steinberg, Mark D. Sawyer, Daniel H. Williams, Douglas M. Overbey> ;Journal of Endourology. 2019 Nov 20
• Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
  Falkenberg, K. D.,Braverman, N. E.,Moser, A. B.,Steinberg, S. J.,Klouwer, FCC.,Schlüter, A.,Ruiz, M.,Pujol, A.,Engvall, M.,Naess, K.,van Spronsen, F.,Körver-Keularts, ...> ;Am. J. Hum. Genet.. 2017 Dec 09
• X-linked Adrenoleukodystrophy in a Chimpanzee Due to an ABCD1 Mutation Reported in Multiple Unrelated Humans
  Florian Eichler, Steven Jefrey Steinberg, Adeline Vanderver> ;Molecular Genetics and Metabolism. 2017 Sep 19
• 2 citations
  Research prioritization of men's health and urologic diseases.
  Chante Karimkhani, Hannah Pederson, Lindsay N. Boyers, Mark D. Sawyer, Kyle O. Rove, McCabe C Kenny, Steven Steinberg, Mohsen Naghavi, Robert P. Dellavalle, Tyler S. O...> ;International Braz j Urol. 2017 Mar 1
• 142 citations
  Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
  Nancy Braverman, Gerald V. Raymond, William B. Rizzo, Ann B. Moser, Mark E. Wilkinson, Edwin M. Stone, Steven J. Steinberg, Michael F. Wangler, Eric T. Rush, Joseph G....> ;Molecular Genetics and Metabolism. 2016 Mar 1
• The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder.
  Hiebler, S.,Masuda, T.,Hacia, J. G.,Moser, A. B.,Faust, P. L.,Liu, A.,Chowdhury, N.,Huang, N.,Lauer, A.,Bennett, J.,Watkins, P. A.,Zack, D. J.,Braverman, N. E.,Raymond...> ;Mol. Genet. Metab.. 2014 Feb 08
• A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
  Levesque S, Morin C, Guay S, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE> ;BMC Med. Genet.. 2012-08-15
• Copy number aberrations of BCL2 and CDKN2A/B identified by array-CGH in thymic epithelial tumors.
  Petrini I, Meltzer PS, Zucali PA, Luo J, Lee C, Santoro A, Lee HS, Killian KJ, Wang Y, Tsokos M, Roncalli M, Steinberg SM, Wang Y, Giaccone G> ;Cell Death Dis. 2012-07-19
• Array-based comparative genomic hybridization analysis to identify prognostic markers for resected pancreatic cancer.
  Lee J, Petrini I, Hwang J, Giovannetti E, Voortman J, Wang Y, Steinberg SM, Funel N, Meltzer PS, Wang Y, Giaccone G> ;J. Clin. Oncol.. 2011-05-20
• 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.. 2011-05-01
• X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
  Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JTR, Charnas L, Stetten G, Karczes...> ;Mol. Genet. Metab.. 2011-01-01
• Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
  Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N> ;Am. J. Med. Genet. A. 2010-07-01
• A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
  Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S> ;Mol. Genet. Metab.. 2010-04-01
• Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
  Zhang R, Chen L, Jiralerspong S, Snowden A, Steinberg S, Braverman N> ;Proc. Natl. Acad. Sci. U.S.A.. 2010-03-23
• Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
  Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N> ;J. Appl. Genet.. 2010-01-01
• 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, Macaya D, Turgeon CT, Tortorelli S, Raymond GV> ;Mol. Genet. Metab.. 2009-07-01
• A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
  Steinberg, S. J.,Snowden, A.,Braverman, N. E.,Chen, L.,Watkins, P. A.,Clayton, P. T.,Setchell, K. D.,Heubi, J. E.,Raymond, G. V.,Moser, A. B.,Moser, H. W.> ;J. Inherit. Metab. Dis.. 2009 Jan 08
• 1 citations
  Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia
  R. Bonilla Guerrero, Lynne A. Wolfe, N. Payne, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, Dimitar Gavrilov, M. Melan, Miao He, Steven J. Steinberg, Gerald V. R...> ;Journal of Inherited Metabolic Disease. 2008 Dec 16
• Investigational methods for peroxisomal disorders.
  Steinberg, S.,Jones, R.,Tiffany, C.,Moser, A.> ;Curr Protoc Hum Genet. 2008 Jul 18
• Peroxisome biogenesis disorders.
  Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW> ;Biochim. Biophys. Acta. 2006-12-01
• The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
  Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N> ;Mol. Genet. Metab.. 2004-11-01
• Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein.
  Steinberg SJ, Wang SJ, McGuinness MC, Watkins PA> ;Mol. Genet. Metab.. 1999-09-01
• Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
  Steinberg SJ, Elçioglu N, Slade CM, Sankaralingam A, Dennis N, Mohammed SN, Fensom AH> ;Am. J. Med. Genet.. 1999-08-27
• An adult with a non-neuronopathic form of Niemann-Pick C disease.
  Fensom AH, Grant AR, Steinberg SJ, Ward CP, Lake BD, Logan EC, Hulman G> ;J. Inherit. Metab. Dis.. 1999-02-01
• Join now to see all