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Journal Abstract Search

134 related items for PubMed ID: 31261205

  • 1. 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]

  • 2. A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.
    Rojnueangnit K, Phawan T, Khetkham T, Techasatid W, Sirichongkolthong B.
    Am J Med Genet A; 2022 Feb 20; 188(2):658-664. PubMed ID: 34755929
    [Abstract] [Full Text] [Related]

  • 3. Genetic cause of rare disease may be involved in more common birth defects.
    Am J Med Genet A; 2011 Aug 20; 155A(8):ix-x. PubMed ID: 21774070
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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 20; 62(9):851-855. PubMed ID: 28446798
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 20; 54(3):407-9. PubMed ID: 22631568
    [No Abstract] [Full Text] [Related]

  • 9. DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.
    Aminkeng F.
    Clin Genet; 2015 Dec 20; 88(6):532. PubMed ID: 26419402
    [No Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.
    Vandersteen AM, Dixon JW.
    Clin Dysmorphol; 2011 Oct 20; 20(4):210-213. PubMed ID: 21785343
    [No Abstract] [Full Text] [Related]

  • 13. Adams-Oliver syndrome in a newborn infant.
    Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S.
    Int J Dermatol; 2016 Feb 20; 55(2):215-7. PubMed ID: 24697559
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [Adams-Oliver syndrome].
    Bayou F, Boussofara L, Bennani ZL, Ghariani N, Saïdi W, Belajouza C, Denguezli M, Nouira R.
    Ann Dermatol Venereol; 2011 Oct 04; 138(10):712-4. PubMed ID: 21978514
    [No Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
    Jones KM, Silfvast-Kaiser A, Leake DR, Diaz LZ, Levy ML.
    Pediatr Dermatol; 2017 Sep 03; 34(5):e249-e253. PubMed ID: 28884918
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 24; 39(9):1246-1261. PubMed ID: 29924900
    [Abstract] [Full Text] [Related]

  • 20. 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 24; 182(1):29-37. PubMed ID: 31654484
    [Abstract] [Full Text] [Related]

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