These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 30039880)

  • 1. Congenital eye anomalies: More mosaic than thought?
    Ohuchi H; Sato K; Habuta M; Fujita H; Bando T
    Congenit Anom (Kyoto); 2019 May; 59(3):56-73. PubMed ID: 30039880
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
    Deml B; Reis LM; Lemyre E; Clark RD; Kariminejad A; Semina EV
    Eur J Hum Genet; 2016 Apr; 24(4):535-41. PubMed ID: 26130484
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
    Reis LM; Semina EV
    Birth Defects Res C Embryo Today; 2015 Jun; 105(2):96-113. PubMed ID: 26046913
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG; Rajkumar S; Vasavada AR
    Ophthalmic Genet; 2018 Jun; 39(3):344-352. PubMed ID: 29461140
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos.
    Yasue A; Kono H; Habuta M; Bando T; Sato K; Inoue J; Oyadomari S; Noji S; Tanaka E; Ohuchi H
    Sci Rep; 2017 Mar; 7(1):53. PubMed ID: 28246397
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
    Harding P; Gore S; Malka S; Rajkumar J; Oluonye N; Moosajee M
    Br J Ophthalmol; 2023 Nov; 107(12):1925-1935. PubMed ID: 36192130
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
    Schilter KF; Reis LM; Schneider A; Bardakjian TM; Abdul-Rahman O; Kozel BA; Zimmerman HH; Broeckel U; Semina EV
    Clin Genet; 2013 Nov; 84(5):473-81. PubMed ID: 23701296
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.
    Dash S; Brastrom LK; Patel SD; Scott CA; Slusarski DC; Lachke SA
    Hum Mol Genet; 2020 Mar; 29(4):591-604. PubMed ID: 31814023
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J; Pelcastre EL; Tovilla-Canales JL; Garcia-Ortiz JE; Amato-Almanza M; Villanueva-Mendoza C; Espinosa-Mattar Z; Zenteno JC
    Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The genetic architecture of microphthalmia, anophthalmia and coloboma.
    Williamson KA; FitzPatrick DR
    Eur J Med Genet; 2014 Aug; 57(8):369-80. PubMed ID: 24859618
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
    Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
    JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ocular coloboma: a reassessment in the age of molecular neuroscience.
    Gregory-Evans CY; Williams MJ; Halford S; Gregory-Evans K
    J Med Genet; 2004 Dec; 41(12):881-91. PubMed ID: 15591273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of PITX3 mutations in individuals with various ocular developmental defects.
    Zazo Seco C; Plaisancié J; Lupasco T; Michot C; Pechmeja J; Delanne J; Cottereau E; Ayuso C; Corton M; Calvas P; Ragge N; Chassaing N
    Ophthalmic Genet; 2018 Jun; 39(3):314-320. PubMed ID: 29405783
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development.
    Ramaesh T; Williams SE; Paul C; Ramaesh K; Dhillon B; West JD
    Exp Eye Res; 2009 Aug; 89(2):263-73. PubMed ID: 19345209
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
    Riera M; Wert A; Nieto I; Pomares E
    Mol Genet Genomic Med; 2017 Nov; 5(6):709-719. PubMed ID: 29178648
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
    Chee JM; Lanoue L; Clary D; Higgins K; Bower L; Flenniken A; Guo R; Adams DJ; Bosch F; Braun RE; Brown SDM; Chin HG; Dickinson ME; Hsu CW; Dobbie M; Gao X; Galande S; Grobler A; Heaney JD; Herault Y; de Angelis MH; Mammano F; Nutter LMJ; Parkinson H; Qin C; Shiroishi T; Sedlacek R; Seong JK; Xu Y; ; Brooks B; McKerlie C; Lloyd KCK; Westerberg H; Moshiri A
    BMC Biol; 2023 Feb; 21(1):22. PubMed ID: 36737727
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
    Leung KCP; Ko TCS
    Ophthalmic Genet; 2020 Aug; 41(4):373-376. PubMed ID: 32506980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
    Matías-Pérez D; García-Montaño LA; Cruz-Aguilar M; García-Montalvo IA; Nava-Valdéz J; Barragán-Arevalo T; Villanueva-Mendoza C; Villarroel CE; Guadarrama-Vallejo C; la Cruz RV; Chacón-Camacho O; Zenteno JC
    J Hum Genet; 2018 Nov; 63(11):1169-1180. PubMed ID: 30181649
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N; Causse A; Vigouroux A; Delahaye A; Alessandri JL; Boespflug-Tanguy O; Boute-Benejean O; Dollfus H; Duban-Bedu B; Gilbert-Dussardier B; Giuliano F; Gonzales M; Holder-Espinasse M; Isidor B; Jacquemont ML; Lacombe D; Martin-Coignard D; Mathieu-Dramard M; Odent S; Picone O; Pinson L; Quelin C; Sigaudy S; Toutain A; Thauvin-Robinet C; Kaplan J; Calvas P
    Clin Genet; 2014 Oct; 86(4):326-34. PubMed ID: 24033328
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.