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Results 1 - 10 of 12 for Cooks syndrome
  1. PNPLA6 gene 
    ... Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10): ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  2. STAT3 gene 
    ... PubMed Central Kane A, Deenick EK, Ma CS, Cook MC, Uzel G, Tangye SG. ... CA. STAT3 signaling and the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357( ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
  3. ITPR1 gene 
    ... Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire ... Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  4. CFHR5 gene 
    ... Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani ... article on PubMed Central Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 ...
    https://medlineplus.gov/genetics/gene/cfhr5 - Genetics
  5. GRIN2A gene 
    ... Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  6. SMC3 gene 
    ... A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee ... FitzPatrick DR. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  7. NLRP3 gene 
    ... CONTAINING 3; NLRP3 NCBI Gene ClinVar Church LD, Cook GP, McDermott MF. Primer: inflammasomes and interleukin 1beta ... Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? J Clin ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  8. SLC6A3 gene 
    ... AN; NIH ARRA Autism Sequencing Consortium; Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe ... and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol. ...
    https://medlineplus.gov/genetics/gene/slc6a3 - Genetics
  9. ATP1A3 gene 
    ... Haq IU, Snively BM, Sweadner KJ, Suerken CK, Cook JF, Ozelius LJ, Miller C, McCall WV, Whitlow ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  10. PPM1D gene 
    ... Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles ... de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum ...
    https://medlineplus.gov/genetics/gene/ppm1d - Genetics
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