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Results 1 - 10 of 16 for Van Maldergem syndrome 1
  1. TWIST1 gene 
    ... Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, ... screening. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012- ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  2. OFD1 gene 
    ... Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, ... syndrome type 1: a French and Belgian collaborative study. J Med ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  3. SALL1 gene 
    ... Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  4. TBX5 gene 
    ... Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov;58(5):981-6. ...
    https://medlineplus.gov/genetics/gene/tbx5 - Genetics
  5. ATP6V0A2 gene 
    ... Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  6. SPINK5 gene 
    ... Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of ...
    https://medlineplus.gov/genetics/gene/spink5 - Genetics
  7. BSCL2 gene 
    ... Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  8. RECQL4 gene 
    ... mvp074. Epub 2009 May 18. Citation on PubMed Van Maldergem ... association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  9. DNMT3A gene 
    ... A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium; van Montfort R, Rahman N. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46( ...
    https://medlineplus.gov/genetics/gene/dnmt3a - Genetics
  10. AGPAT2 gene 
    ... Schaffer JE, Ory DS. A regulatory role for ... Magre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
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