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Journal Abstract Search

193 related items for PubMed ID: 23860037

  • 21. A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
    Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM.
    Ophthalmic Genet; 2020 Aug; 41(4):377-380. PubMed ID: 32498638
    [Abstract] [Full Text] [Related]

  • 22. Adams-Oliver syndrome and familial MYH9 mutation.
    Uyeda T, Echizenya T, Eto S, Ohtani K, Sato T, Takahashi T, Ito E, Yonesaka S, Kunishima S.
    Pediatr Int; 2012 Jun; 54(3):407-9. PubMed ID: 22631568
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 24. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
    Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.
    Am J Med Genet A; 2020 Jan; 182(1):29-37. PubMed ID: 31654484
    [Abstract] [Full Text] [Related]

  • 25. Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
    Santaniello C, Faversani A, Corsaro L, Melloni G, Motta S, Mandorino E, Sacco D, Stioui S, Ferrara F, Barteselli D, De Vita D, Manuelli D, Costantino L.
    Genes (Basel); 2024 Apr 24; 15(5):. PubMed ID: 38790165
    [Abstract] [Full Text] [Related]

  • 26. Adams-Oliver syndrome associated with refractory glaucoma.
    Pillai MR, Pabolu C, R R, Chaudhary S, Sr K, Puthuran GV.
    J AAPOS; 2024 Aug 24; 28(4):103950. PubMed ID: 38866321
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.
    Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X.
    Chin Med J (Engl); 2019 Jul 20; 132(14):1755-1757. PubMed ID: 31261205
    [No Abstract] [Full Text] [Related]

  • 29. Adams-Oliver syndrome.
    Kutlubay Z, Pehlivan Ö.
    Int J Dermatol; 2014 Mar 20; 53(3):352-4. PubMed ID: 24320818
    [No Abstract] [Full Text] [Related]

  • 30. Adams-Oliver syndrome: new evidence in variable expressivity?
    Girish M, Mujawar N, Anekar U, Bhattad S.
    Int J Dermatol; 2014 Jul 20; 53(7):891-3. PubMed ID: 24372423
    [No Abstract] [Full Text] [Related]

  • 31. Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.
    Huang S, Yang L, Zhao L, Xu R, Wu Y.
    DNA Cell Biol; 2020 May 20; 39(5):783-789. PubMed ID: 32129674
    [Abstract] [Full Text] [Related]

  • 32. Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
    Isrie M, Wuyts W, Van Esch H, Devriendt K.
    Am J Med Genet A; 2014 Jun 20; 164A(6):1576-9. PubMed ID: 24668619
    [Abstract] [Full Text] [Related]

  • 33. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
    Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.
    Circ Cardiovasc Genet; 2015 Aug 20; 8(4):572-581. PubMed ID: 25963545
    [Abstract] [Full Text] [Related]

  • 34. Adams Oliver Syndrome.
    Madan A, Sardana K, Garg VK.
    Indian Pediatr; 2015 Jul 20; 52(7):633-4. PubMed ID: 26244971
    [No Abstract] [Full Text] [Related]

  • 35. Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation.
    Yağci-Küpeli B, Çağlar K, Büyük S, Balci S.
    Genet Couns; 2011 Jul 20; 22(1):55-61. PubMed ID: 21614989
    [Abstract] [Full Text] [Related]

  • 36. Adams-Oliver Syndrome: Limited Expression.
    Kasinathan A, Sharawat IK, Das G, Sankhyan N.
    Indian J Pediatr; 2019 Jan 20; 86(1):101-102. PubMed ID: 29948730
    [No Abstract] [Full Text] [Related]

  • 37. Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect.
    Lorenz L, Sönnichsen K, Müller-Hansen I, Poets C.
    Klin Padiatr; 2014 Jul 20; 226(4):250-1. PubMed ID: 24515817
    [No Abstract] [Full Text] [Related]

  • 38. Adams-Oliver syndrome: a case report.
    Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA.
    Pediatr Dermatol; 2015 Jul 20; 32(3):383-5. PubMed ID: 25556654
    [Abstract] [Full Text] [Related]

  • 39. Adams-Oliver syndrome associated with gastrointestinal malformations.
    van Geyzel L, Gribbon C, Bradley S, Duffy D.
    BMJ Case Rep; 2016 Nov 25; 2016():. PubMed ID: 27888223
    [No Abstract] [Full Text] [Related]

  • 40. Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.
    Ogawa M, Furukawa K, Okajima T.
    World J Biol Chem; 2014 May 26; 5(2):224-30. PubMed ID: 24921011
    [Abstract] [Full Text] [Related]

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