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Results 1 - 10 of 31 for Cooks syndrome
  1. 15q11-q13 duplication syndrome 
    ... Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O. Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP. Epilepsy Behav. 2016 Aug; ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  2. VEXAS syndrome 
    ... Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24; ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  3. TRNT1 deficiency 
    ... PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  4. 7q11.23 duplication syndrome 
    ... Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  5. Boucher-Neuhäuser syndrome 
    ... 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/.../condition/boucher-neuhauser-syndrome - Genetics
  6. Gordon Holmes syndrome 
    ... 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/condition/gordon-holmes-syndrome - Genetics
  7. 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
  8. Chromosome 8 
    ... article on PubMed Central Hulley BJ, Hummel M, Cook LL, Boyd BK, ... RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010 Apr;41(4): ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  9. 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
  10. Gillespie syndrome 
    ... 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/condition/gillespie-syndrome - Genetics
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