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Connection

Ellen Elias to Abnormalities, Multiple

This is a "connection" page, showing publications Ellen Elias has written about Abnormalities, Multiple.

 
Connection Strength
 
 
 
0.479
 
  1. 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: 0.127
  2. 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.
    View in: PubMed
    Score: 0.055
  3. 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.
    View in: PubMed
    Score: 0.050
  4. 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.
    View in: PubMed
    Score: 0.038
  5. van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-W?dl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, L?pez-Gonz?lez V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 06; 21(6):1295-1307.
    View in: PubMed
    Score: 0.035
  6. 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.
    View in: PubMed
    Score: 0.034
  7. Theodoropoulos DS, Cowan JM, Elias ER, Cole C. Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. Am J Med Genet. 1995 Nov 06; 59(2):161-3.
    View in: PubMed
    Score: 0.029
  8. 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.
    View in: PubMed
    Score: 0.028
  9. 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.
    View in: PubMed
    Score: 0.026
  10. 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.
    View in: PubMed
    Score: 0.025
  11. 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.
    View in: PubMed
    Score: 0.024
  12. Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet. 1996 Jan 22; 61(3):269-73.
    View in: PubMed
    Score: 0.007
Connection Strength

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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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