BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 28884918)

  • 1. 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; 34(5):e249-e253. PubMed ID: 28884918
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 700():65-69. PubMed ID: 30898718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 89(2):328-33. PubMed ID: 21820096
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 179(11):2246-2251. PubMed ID: 31368252
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 49(3):217-221. PubMed ID: 29631299
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 164A(10):2656-62. PubMed ID: 25091416
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 112(3):e108-12. PubMed ID: 24862819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
    Zepeda-Romero LC; Zenker M; Schanze D; Schanze I; Peña-Padilla C; Quezada-Salazar CA; Pacheco-Torres PA; Rivera-Montellano ML; Aguirre-Guillén RL; Bobadilla-Morales L; Corona-Rivera A; Corona-Rivera JR
    Eur J Med Genet; 2022 Dec; 65(12):104653. PubMed ID: 36330903
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 173(3):790-800. PubMed ID: 28160419
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 188(2):658-664. PubMed ID: 34755929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. 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; 39(9):1246-1261. PubMed ID: 29924900
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 22(1):55-61. PubMed ID: 21614989
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 188(11):3318-3323. PubMed ID: 36059114
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 97(3):475-82. PubMed ID: 26299364
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.
    Nieto-Benito LM; Suárez-Fernández R; Campos-Domínguez M
    Mol Biol Rep; 2023 Jun; 50(6):5519-5521. PubMed ID: 37133614
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.