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Journal Abstract Search

145 related items for PubMed ID: 21785343

  • 21.
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  • 23. Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
    Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.
    J Hum Genet; 2017 Sep; 62(9):851-855. PubMed ID: 28446798
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  • 24. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
    Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS.
    Eur J Hum Genet; 2014 Mar; 22(3):374-8. PubMed ID: 23860037
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  • 26. Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block.
    Atasoy HI, Tug E, Yavuz T, Cine N.
    Pediatr Int; 2013 Aug; 55(4):508-12. PubMed ID: 23910800
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  • 29. DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
    Aminkeng F.
    Clin Genet; 2015 Dec; 88(6):532. PubMed ID: 26419402
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  • 30. [The Adams-Oliver syndrome. A case report].
    Yéo S, Perrot P, Bellier-Waast F, David A, Duteille F.
    Chir Main; 2010 Sep; 29(4):274-6. PubMed ID: 20727808
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  • 31. [Adams-Oliver syndrome: case report].
    Kuburović V, Vukomanović V, Kosutić J, Rakić S, Gazikalović S.
    Srp Arh Celok Lek; 2011 Sep; 139(3-4):221-4. PubMed ID: 21626769
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  • 33. Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
    Wang Z, Wang X, Guiyu Lou, Litao Qin, Shasha Bian, Tang X, Hongjie Zhu, Shengran Wang, Bingtao Hao, Shixiu Liao.
    Gene; 2019 Jun 05; 700():65-69. PubMed ID: 30898718
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  • 36. Two different management modalities in a two sibling case report of Adams Oliver syndrome.
    Al-Hadithy N, Mennie J, Stewart K.
    BMJ Case Rep; 2011 Dec 21; 2011():. PubMed ID: 22670005
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  • 37. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
    Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.
    Hum Mutat; 2018 Sep 21; 39(9):1246-1261. PubMed ID: 29924900
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  • 38. Visual Diagnosis: A Baby with a Scalp Lesion, Rash, and Left-Foot Deformity.
    Lara DA, Loar RW, Allen HD.
    Pediatr Rev; 2017 Jun 21; 38(6):e20-e23. PubMed ID: 28572145
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  • 40. Genetic cause of rare disease may be involved in more common birth defects.
    Am J Med Genet A; 2011 Aug 21; 155A(8):ix-x. PubMed ID: 21774070
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