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Results 1 - 10 of 11 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. 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
  8. Epilepsy-aphasia spectrum 
    ... and with or without mental retardation ... Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  9. 16p11.2 deletion syndrome 
    ... Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. Recurrent 16p11. ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  10. Fumarase deficiency 
    ... SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield- ... hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
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