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Results 31 - 40 of 81 for Miller syndrome
  1. 47,XYY syndrome 
    ... article on PubMed Central Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 ...
    https://medlineplus.gov/genetics/condition/47xyy-syndrome - Genetics
  2. ELN gene 
    ... Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Aortopathy in the 7q11.23 microduplication syndrome. Am J Med Genet A. 2015 Feb;167A( ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  3. USH2A gene 
    ... 2005 Nov 21. Citation on PubMed Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002 Jan;163(1- ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  4. Shprintzen-Goldberg syndrome 
    ... Hurst J, Maystadt I, Destree A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet. 2015 Feb;23(2): ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  5. 15q13.3 microdeletion 
    ... Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016 Nov;18(11):1111-1118. ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
  6. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  7. FOXL2 gene 
    ... Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
  8. Chromosome 7 
    ... Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, ... the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul;9(7):427- ...
    https://medlineplus.gov/genetics/chromosome/7 - Genetics
  9. WT1 gene 
    ... the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat. 2002 Apr;19(4):462. doi: 10.1002/humu.9031. Citation on PubMed Miller-Hodges E, Hohenstein P. WT1 in disease: shifting ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  10. KBG syndrome 
    ... Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin ... KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
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