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Connection

Ellen Elias to Smith-Lemli-Opitz Syndrome

This is a "connection" page, showing publications Ellen Elias has written about Smith-Lemli-Opitz Syndrome.

 
Connection Strength
 
 
 
1.442
 
  1. 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.
    View in: PubMed
    Score: 0.230
  2. Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Aug; 173(8):2097-2100.
    View in: PubMed
    Score: 0.145
  3. 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.
    View in: PubMed
    Score: 0.143
  4. 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.
    View in: PubMed
    Score: 0.137
  5. Elias ER, Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4.
    View in: PubMed
    Score: 0.132
  6. 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.
    View in: PubMed
    Score: 0.132
  7. 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.
    View in: PubMed
    Score: 0.106
  8. 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.
    View in: PubMed
    Score: 0.090
  9. Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9.
    View in: PubMed
    Score: 0.082
  10. 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.
    View in: PubMed
    Score: 0.057
  11. 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.
    View in: PubMed
    Score: 0.045
  12. 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.
    View in: PubMed
    Score: 0.039
  13. 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.
    View in: PubMed
    Score: 0.036
  14. 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.
    View in: PubMed
    Score: 0.036
  15. 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.
    View in: PubMed
    Score: 0.033
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

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