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Journal Abstract Search

193 related items for PubMed ID: 23860037

  • 41. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
    Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M.
    Am J Med Genet A; 2014 Oct; 164A(10):2656-62. PubMed ID: 25091416
    [Abstract] [Full Text] [Related]

  • 42. N-Glycans on EGF domain-specific O-GlcNAc transferase (EOGT) facilitate EOGT maturation and peripheral endoplasmic reticulum localization.
    Alam SMD, Tsukamoto Y, Ogawa M, Senoo Y, Ikeda K, Tashima Y, Takeuchi H, Okajima T.
    J Biol Chem; 2020 Jun 19; 295(25):8560-8574. PubMed ID: 32376684
    [Abstract] [Full Text] [Related]

  • 43. [Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].
    Zhang K, Gao Z, Jin R, Lyu Y, Gao M, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Apr 10; 36(4):348-351. PubMed ID: 30950023
    [Abstract] [Full Text] [Related]

  • 44. [Adams-Oliver syndrome: a case with minimal expression].
    Messerer M, Diabira S, Belliard H, Hamlat A.
    Arch Pediatr; 2010 Oct 10; 17(10):1460-4. PubMed ID: 20728324
    [Abstract] [Full Text] [Related]

  • 45. Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome.
    Renfree KJ, Dell PC.
    J Hand Surg Am; 2016 Jul 10; 41(7):e207-10. PubMed ID: 27178874
    [Abstract] [Full Text] [Related]

  • 46. Intracranial Calcifications in Young Children.
    Dugan SL, Botto LD, Hedlund GL, Bale JF.
    Semin Pediatr Neurol; 2018 Jul 10; 26():135-139. PubMed ID: 29961505
    [Abstract] [Full Text] [Related]

  • 47. Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
    Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM.
    Neuropediatrics; 2018 Jun 10; 49(3):217-221. PubMed ID: 29631299
    [Abstract] [Full Text] [Related]

  • 48. DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
    Aminkeng F.
    Clin Genet; 2015 Dec 10; 88(6):532. PubMed ID: 26419402
    [No Abstract] [Full Text] [Related]

  • 49. Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block.
    Atasoy HI, Tug E, Yavuz T, Cine N.
    Pediatr Int; 2013 Aug 10; 55(4):508-12. PubMed ID: 23910800
    [Abstract] [Full Text] [Related]

  • 50. Diseases related to Notch glycosylation.
    Matsumoto K, Luther KB, Haltiwanger RS.
    Mol Aspects Med; 2021 Jun 10; 79():100938. PubMed ID: 33341260
    [Abstract] [Full Text] [Related]

  • 51. Structure and function of extracellular O-GlcNAc.
    Ogawa M, Okajima T.
    Curr Opin Struct Biol; 2019 Jun 10; 56():72-77. PubMed ID: 30669087
    [Abstract] [Full Text] [Related]

  • 52. [Adams-Oliver syndrome: case report].
    Kuburović V, Vukomanović V, Kosutić J, Rakić S, Gazikalović S.
    Srp Arh Celok Lek; 2011 Jun 10; 139(3-4):221-4. PubMed ID: 21626769
    [Abstract] [Full Text] [Related]

  • 53. RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
    Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM.
    Am J Hum Genet; 2012 Aug 10; 91(2):391-5. PubMed ID: 22883147
    [Abstract] [Full Text] [Related]

  • 54. [The Adams-Oliver syndrome. A case report].
    Yéo S, Perrot P, Bellier-Waast F, David A, Duteille F.
    Chir Main; 2010 Sep 10; 29(4):274-6. PubMed ID: 20727808
    [Abstract] [Full Text] [Related]

  • 55. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
    Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.
    Am J Hum Genet; 2011 May 13; 88(5):574-85. PubMed ID: 21565291
    [Abstract] [Full Text] [Related]

  • 56. 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
    [Abstract] [Full Text] [Related]

  • 57. Novel copy number variants and major limb reduction malformation: Report of three cases.
    Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS.
    Am J Med Genet A; 2016 May 21; 170A(5):1245-50. PubMed ID: 26749485
    [Abstract] [Full Text] [Related]

  • 58. Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system.
    Ogawa M, Sawaguchi S, Kamemura K, Okajima T.
    Exp Neurol; 2015 Dec 21; 274(Pt B):166-74. PubMed ID: 26278182
    [Abstract] [Full Text] [Related]

  • 59. Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.
    Sezgin B, Sibar S, Findikcioglu K, Sencan A, Emmez H, Baykaner K, Ozmen S.
    J Wound Care; 2017 Jun 02; 26(6):342-345. PubMed ID: 28598754
    [Abstract] [Full Text] [Related]

  • 60. O-linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell-matrix interactions.
    Sakaidani Y, Nomura T, Matsuura A, Ito M, Suzuki E, Murakami K, Nadano D, Matsuda T, Furukawa K, Okajima T.
    Nat Commun; 2011 Dec 13; 2():583. PubMed ID: 22158438
    [Abstract] [Full Text] [Related]

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