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Showing 31 - 45 of 160 results
  • Selden N, Al-Uzri A, Huhn S, Koch T, Sikora D, Nguyen-Driver M, Guillaume D, Koh J, Gultekin S, Anderson J, Vogel H, Sutcliffe T, Jacobs Y, Steiner R. Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr. 2013 Jun;11(6):643-52.
    PubMed ID: 23581634
  • Merkens L, Myrie S, Steiner R. Mymin D: Sitosterolemia GeneReviews at GeneTests: Medical Genetics Information Resource http://www.genetests.org. 2013 Apr;
  • Kruer M, Jepperson T, Dutta S, Steiner R, Cottenie E, Sanford L, Merkens M, Russman B, Blasco P, Fan G, Pollock J, Green S, Woltjer R, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H. Mutations in gamma adducin are associated with inherited cerebral palsy. Annals of Neurology. 2013 Dec;74(6):805-14.
    PubMed ID: 23836506
  • Freeman K, Eagle R, Merkens L, Sikora D, Pettit-Kekel K, Nguyen-Driver M, Steiner R. Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. Cognitive and Behavioral Neurology. 2013 Mar;26(1):23-9.
    PubMed ID: 23538569
  • Freeman K, Eagle R, Merkens L, Sikora D, Pettit-Kekel K, Nguyen-Driver M, Steiner R. Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. Cognitive and Behavioral Neurology. 2013 Mar;26(1):23-9.
    PubMed ID: 23538569
  • Araujo G, Christ S, Grange D, Steiner R, Coleman C, Timmerman E, White D. Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. DEVELOPMENTAL NEUROPSYCHOLOGY. 2013;38(3):139-52.
    PubMed ID: 23573793
  • Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke J, Steiner R, Beck M, Barshop B, Rhead W, West M, Martin R, Amato D, Nair N, Huertas P. Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. GENETICS IN MEDICINE. 2013 Dec;15(12):983-9.
    PubMed ID: 23680766
  • Schwarze U, Cundy T, Pyott S, Christiansen H, Hegde M, Bank R, Pals G, Ankala A, Conneely K, Seaver L, Yandow S, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Ageel A, Hannibal M, Hudgins L, McPherson EW, Clemens M, Sussman M, Steiner R, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton V, Davis E, Kim L, Weis M, Eyre D, Byers P. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. HUMAN MOLECULAR GENETICS. 2013 Jan;22(1):1-17.
    PubMed ID: 22949511
  • Roullet J, Merkens L, Pappu A, Jacobs M, Winter R, Connor W, Steiner R. No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. JOURNAL OF INHERITED METABOLIC DISEASE. 2013 Sep;35(5):859-69.
    PubMed ID: 22391996
  • Hendriksz C, Giugliani R, Harmatz P, Lampe C, Martins A, Pastores GM, Steiner R, Leao Teles E, Valayannopoulos V, CSP Study Group. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). JOURNAL OF INHERITED METABOLIC DISEASE. 2013 Mar;36(2):373-84.
    PubMed ID: 22127392
  • Liu W, Xu L, Lamberson C, Merkens L, Steiner R, Elias ER, Haas D, Porter N. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. JOURNAL OF LIPID RESEARCH. 2013 Jan;54(1):244-53.
    PubMed ID: 23072947
  • Bishop N, Adami S, Ahmed S, Anton J, Arundel P, Burren C, Devogelaer J, Hangartner T, Hosszu E, Lane JM, Lorenc R, Makitie O, Munns C, Paredes A, Pavlov H, Plotkin H, Raggio C, Reyes M, Schoenau E, Semler O, Sillence D, Steiner R. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013 Oct;382(9902):1424-32.
    PubMed ID: 23927913
  • Svoboda M, Christie J, Eroglu Y, Freeman K, Steiner R. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet. 2012 Nov;160C(4):285-94.
    PubMed ID: 23042642
  • Al-Uzri A, Steiner R, Wasserstein M, Fenton C. Oculocerebrorenal Dystrophy (Lowe Syndrome) eMedicine from WebMD www.emedicine.medscape.com/article/946043-overview. 2012;
  • Ikeda A, Moore T, Steiner R. Metachromatic Leukodystrophy eMedicine from Web MD www.emedicine.medscape.com/article/951840-overview. 2012;