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Results 1 - 10 of 12 for rocha syndrome
  1. Sjögren syndrome 
    ... 3390/ijms21020650. Citation on PubMed de Paiva CS, Rocha EM. Sjogren syndrome: what and where are we looking for? Curr ...
    https://medlineplus.gov/genetics/condition/sjogren-syndrome - Genetics
  2. Heterotaxy syndrome 
    ... B, Thauvin C, Maltret A, Dauphin C, Goncalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  3. Schinzel-Giedion syndrome 
    ... for Rare Disorders (NORD) SCHINZEL-GIEDION MIDFACE RETRACTION ... M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  4. Primary macronodular adrenal hyperplasia 
    ... Registry: Acth-independent macronodular adrenal hyperplasia 2 Cushing syndrome ... MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P, Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, ...
    https://medlineplus.gov/.../primary-macronodular-adrenal-hyperplasia - Genetics
  5. Chromosome 3 
    ... K, Lundvall M, Blennow E. Distal 3p deletion syndrome: detailed molecular ... Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes ...
    https://medlineplus.gov/genetics/chromosome/3 - Genetics
  6. X chromosome 
    ... Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  7. SETBP1 gene 
    ... Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, ... SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet. 2017 Mar 27; ...
    https://medlineplus.gov/genetics/gene/setbp1 - Genetics
  8. Chromosome 12 
    ... CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes ... origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of ...
    https://medlineplus.gov/genetics/chromosome/12 - Genetics
  9. Mitochondrial complex V deficiency 
    ... DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 PubMed Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The ... synthase assembly defect: further delineation of a new syndrome. J Med Genet. 2011 Mar;48(3):177- ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  10. Mitochondrial complex I deficiency 
    ... DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 PubMed Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
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