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Results 21 - 30 of 81 for Miller syndrome
  1. Riboflavin transporter deficiency neuronopathy 
    ... Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  2. SLC52A3 gene 
    ... Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  3. TNXB gene 
    ... Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  4. Hajdu-Cheney syndrome 
    ... Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013 Aug;24(8):2275-81. ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  5. NOTCH2 gene 
    ... Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int. 2013 Aug;24(8):2275-81. ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  6. SALL1 gene 
    ... doi: 10.1038/ng0198-81. Citation on PubMed Miller EM, Hopkin R, Bao L, Ware SM. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  7. 7q11.23 duplication syndrome 
    ... 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/.../condition/7q1123-duplication-syndrome - Genetics
  8. RECQL4 gene 
    ... on PubMed Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999 May;22(1):82-4. ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  9. Klinefelter 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/klinefelter-syndrome - Genetics
  10. SMAD4 gene 
    ... article on PubMed Central Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
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