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Results 1 - 10 of 42 for Nelson syndrome
  1. OCRL gene 
    ... Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  2. SCNN1B gene 
    ... on PubMed Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the ...
    https://medlineplus.gov/genetics/gene/scnn1b - Genetics
  3. CDKN1C gene 
    ... IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788- ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  4. CRPPA gene 
    ... Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  5. CD40LG gene 
    ... Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999 Apr;103(8):1151- ...
    https://medlineplus.gov/genetics/gene/cd40lg - Genetics
  6. MT-TV gene 
    ... 007. Citation on PubMed Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology. 1997 Aug;49(2):589-92. doi: ...
    https://medlineplus.gov/genetics/gene/mt-tv - Genetics
  7. MT-ND5 gene 
    ... Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA, Hanna MG. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  8. DYNC2H1 gene 
    ... Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr;84(4): ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  9. SLC12A3 gene 
    ... 2004 Apr 6. Citation on PubMed Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in ...
    https://medlineplus.gov/genetics/gene/slc12a3 - Genetics
  10. SCNN1G gene 
    ... or Free article on PubMed Central Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995 Sep;11(1):76-82. ...
    https://medlineplus.gov/genetics/gene/scnn1g - Genetics
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