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Journal Abstract Search

134 related items for PubMed ID: 31261205

  • 21. Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.
    Tao Z, Bu S, Lu F.
    Medicine (Baltimore); 2021 Mar 05; 100(9):e24633. PubMed ID: 33655927
    [Abstract] [Full Text] [Related]

  • 22. 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 05; 173(3):790-800. PubMed ID: 28160419
    [Abstract] [Full Text] [Related]

  • 23. Severe phenotype in two half-sibs with Adams Oliver syndrome.
    Sevilla-Montoya R, Ríos-Flores B, Moreno-Verduzco E, Domínguez-Castro M, Rivera-Pedroza CI, Aguinaga-Ríos DM.
    Arch Argent Pediatr; 2014 Jun 05; 112(3):e108-12. PubMed ID: 24862819
    [Abstract] [Full Text] [Related]

  • 24. 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 05; 49(3):217-221. PubMed ID: 29631299
    [Abstract] [Full Text] [Related]

  • 25. 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 05; 41(4):377-380. PubMed ID: 32498638
    [Abstract] [Full Text] [Related]

  • 26. [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]

  • 27. NOTCH1 loss of the TAD and PEST domain: An antimorph?
    Boerkoel P, Huynh S, Yang GX, Boerkoel CF, Patel MS, Lehman A, Terry J, Elbert A.
    Am J Med Genet A; 2023 Jun 10; 191(6):1593-1598. PubMed ID: 36866832
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. 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]

  • 30. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
    Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS.
    Eur J Hum Genet; 2014 Mar 21; 22(3):374-8. PubMed ID: 23860037
    [Abstract] [Full Text] [Related]

  • 31. Adams-Oliver syndrome associated with refractory glaucoma.
    Pillai MR, Pabolu C, R R, Chaudhary S, Sr K, Puthuran GV.
    J AAPOS; 2024 Aug 21; 28(4):103950. PubMed ID: 38866321
    [Abstract] [Full Text] [Related]

  • 32. 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]

  • 33. Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
    Meester JAN, Verstraeten A, Alaerts M, Schepers D, Van Laer L, Loeys BL.
    Clin Genet; 2019 Jan 13; 95(1):85-94. PubMed ID: 29767458
    [Abstract] [Full Text] [Related]

  • 34. Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.
    Ogawa M, Sawaguchi S, Kawai T, Nadano D, Matsuda T, Yagi H, Kato K, Furukawa K, Okajima T.
    J Biol Chem; 2015 Jan 23; 290(4):2137-49. PubMed ID: 25488668
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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
    [Abstract] [Full Text] [Related]

  • 37. Intracranial Calcifications in Young Children.
    Dugan SL, Botto LD, Hedlund GL, Bale JF.
    Semin Pediatr Neurol; 2018 Jul 12; 26():135-139. PubMed ID: 29961505
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. 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 10; 179(11):2246-2251. PubMed ID: 31368252
    [Abstract] [Full Text] [Related]

  • 40. 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 10; 164A(10):2656-62. PubMed ID: 25091416
    [Abstract] [Full Text] [Related]

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