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Ellen Roy Elias

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone720/777-6739

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? Prenat Diagn. 2017 Jan; 37(1):31-36. PMID: 27859447.
      View in: PubMed
    2. Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000844. PMID: 27148590; PMCID: PMC4853521.
    3. Adams RC, Elias ER. Nonoral feeding for children and youth with developmental or acquired disabilities. Pediatrics. 2014 Dec; 134(6):e1745-62. PMID: 25422022.
      View in: PubMed
    4. Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan; 54(1):244-53. PMID: 23072947; PMCID: PMC3520531.
    5. Elias ER, Murphy NA. Home care of children and youth with complex health care needs and technology dependencies. Pediatrics. 2012 May; 129(5):996-1005. PMID: 22547780.
      View in: PubMed
    6. Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A. Autistic spectrum disorder in a 9-year-old girl with macrocephaly. J Dev Behav Pediatr. 2010 Sep; 31(7):632-4. PMID: 20814261.
      View in: PubMed
    7. Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91. PMID: 20440536; PMCID: PMC2935499.
    8. Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9. PMID: 19213290.
      View in: PubMed
    9. Murphy NA, Elias ER. Sexuality of children and adolescents with developmental disabilities. Pediatrics. 2006 Jul; 118(1):398-403. PMID: 16818589.
      View in: PubMed
    10. Berman S, Rannie M, Moore L, Elias E, Dryer LJ, Jones MD. Utilization and costs for children who have special health care needs and are enrolled in a hospital-based comprehensive primary care clinic. Pediatrics. 2005 Jun; 115(6):e637-42. PMID: 15930189.
      View in: PubMed
    11. Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med. 2005 May; 24(5):703-6. PMID: 15840802.
      View in: PubMed
    12. Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43. PMID: 14662594.
      View in: PubMed
    13. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90. PMID: 14556252.
      View in: PubMed
    14. Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14. PMID: 14605787.
      View in: PubMed
    15. Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91. PMID: 10814720.
      View in: PubMed
    16. Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. Am J Med Genet. 1999 Nov 05; 87(1):61-4. PMID: 10528249.
      View in: PubMed
    17. Metzl JD, Elias ER, Berul CI. An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999 May; 22(5):821-2. PMID: 10353146.
      View in: PubMed
    18. Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med. 1999 Mar-Apr; 1(3):104-8. PMID: 11336448.
      View in: PubMed
    19. Borer JG, Kaefer M, Barnewolt CE, Elias ER, Hobbs N, Retik AB, Peters CA. Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome. J Urol. 1999 Jan; 161(1):235-9. PMID: 10037413.
      View in: PubMed
    20. Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8. PMID: 9706645.
      View in: PubMed
    21. Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Am J Med Genet. 1998 Jun 16; 78(1):70-5. PMID: 9637428.
      View in: PubMed
    22. Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5. PMID: 9382145.
      View in: PubMed
    23. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10. PMID: 9024564.
      View in: PubMed
    24. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4. PMID: 9024565.
      View in: PubMed
    25. Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G. The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44. PMID: 9090293.
      View in: PubMed
    26. Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80. PMID: 8808751.
      View in: PubMed
    27. Elias ER, Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4. PMID: 8776024.
      View in: PubMed
    28. Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8. PMID: 8919321.
      View in: PubMed
    29. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85. PMID: 7560069; PMCID: PMC185814.
    30. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7. PMID: 7608816.
      View in: PubMed
    31. Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 01; 50(4):347-52. PMID: 8209913.
      View in: PubMed
    32. Elias ER, Sadeghi-Nejad A. Precocious puberty in girls with myelodysplasia. Pediatrics. 1994 Mar; 93(3):521-2. PMID: 8115222.
      View in: PubMed
    33. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13. PMID: 8259166.
      View in: PubMed
    34. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414. PMID: 7684480.
      View in: PubMed
    35. McCauley RG, Beckwith JB, Elias ER, Faerber EN, Prewitt LH, Berdon WE. Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome. AJR Am J Roentgenol. 1991 Sep; 157(3):549-52. PMID: 1872243.
      View in: PubMed
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