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Journal Abstract Search

252 related items for PubMed ID: 12774039

  • 1. Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
    Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W.
    Eur J Hum Genet; 2003 Jun; 11(6):457-63. PubMed ID: 12774039
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  • 2. Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.
    Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W.
    Clin Genet; 2006 Jan; 69(1):86-92. PubMed ID: 16451141
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  • 3. Aplasia cutis congenita of the scalp, skull and dura associated with Adams-Oliver syndrome.
    Bilginer B, Onal MB, Bahadir S, Akalan N.
    Turk Neurosurg; 2008 Apr; 18(2):191-3. PubMed ID: 18597236
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  • 4. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?
    Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD.
    Am J Med Genet; 1988 Feb; 29(2):269-76. PubMed ID: 3354598
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  • 9. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
    Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO.
    Nat Genet; 2001 Jan; 27(1):17-8. PubMed ID: 11137991
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  • 11. [Adams-Oliver syndrome: a case with minimal expression].
    Messerer M, Diabira S, Belliard H, Hamlat A.
    Arch Pediatr; 2010 Oct; 17(10):1460-4. PubMed ID: 20728324
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  • 12. 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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  • 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; 36(6):593-8. PubMed ID: 25824905
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  • 16. 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; 164A(6):1576-9. PubMed ID: 24668619
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  • 17. 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
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  • 18. 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 03; 182(1):29-37. PubMed ID: 31654484
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  • 19. [Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].
    Kojmane W, Hmami F, Atmani S.
    Ann Dermatol Venereol; 2019 Mar 03; 146(3):223-225. PubMed ID: 30638685
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