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Journal Abstract Search

287 related items for PubMed ID: 26299364

  • 1. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
    Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W.
    Am J Hum Genet; 2015 Sep 03; 97(3):475-82. PubMed ID: 26299364
    [Abstract] [Full Text] [Related]

  • 2. 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 03; 39(9):1246-1261. PubMed ID: 29924900
    [Abstract] [Full Text] [Related]

  • 3. Mutations in NOTCH1 cause Adams-Oliver syndrome.
    Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS.
    Am J Hum Genet; 2014 Sep 04; 95(3):275-84. PubMed ID: 25132448
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 41(4):377-380. PubMed ID: 32498638
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 62(9):851-855. PubMed ID: 28446798
    [Abstract] [Full Text] [Related]

  • 6. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
    Hassed S, Li S, Mulvihill J, Aston C, Palmer S.
    Am J Med Genet A; 2017 Mar 04; 173(3):790-800. PubMed ID: 28160419
    [Abstract] [Full Text] [Related]

  • 7. 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 04; 8(4):572-581. PubMed ID: 25963545
    [Abstract] [Full Text] [Related]

  • 8. DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
    Aminkeng F.
    Clin Genet; 2015 Dec 04; 88(6):532. PubMed ID: 26419402
    [No Abstract] [Full Text] [Related]

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  • 12. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
    Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS.
    Am J Hum Genet; 2011 Aug 12; 89(2):328-33. PubMed ID: 21820096
    [Abstract] [Full Text] [Related]

  • 13. Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.
    Lukas ML, Harald G, Sanz J, Trippel M, Sabina G, Jochen R.
    Am J Med Genet A; 2022 Nov 12; 188(11):3318-3323. PubMed ID: 36059114
    [Abstract] [Full Text] [Related]

  • 14. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
    Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.
    Hum Mutat; 2015 Jun 12; 36(6):593-8. PubMed ID: 25824905
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  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lehman A, Wuyts W, Patel MS.
    ; 1993 Jun 12. PubMed ID: 27077170
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Adams-Oliver syndrome caused by mutations of the EOGT gene.
    Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, Wuyts W, Zenker M.
    Am J Med Genet A; 2019 Nov 05; 179(11):2246-2251. PubMed ID: 31368252
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 164A(6):1576-9. PubMed ID: 24668619
    [Abstract] [Full Text] [Related]

  • 20. 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 05; 39(5):783-789. PubMed ID: 32129674
    [Abstract] [Full Text] [Related]

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