BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

419 related articles for article (PubMed ID: 31861090)

  • 1. The Spectrum of
    Lima Cunha D; Arno G; Corton M; Moosajee M
    Genes (Basel); 2019 Dec; 10(12):. PubMed ID: 31861090
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
    Dubey SK; Mahalaxmi N; Vijayalakshmi P; Sundaresan P
    Mol Vis; 2015; 21():88-97. PubMed ID: 25678763
    [TBL] [Abstract][Full Text] [Related]  

  • 3. PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
    Lima Cunha D; Owen N; Tailor V; Corton M; Theodorou M; Moosajee M
    Eur J Hum Genet; 2021 Feb; 29(2):349-355. PubMed ID: 33024313
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of genotype-phenotype correlations in
    Vasilyeva TA; Marakhonov AV; Voskresenskaya AA; Kadyshev VV; Käsmann-Kellner B; Sukhanova NV; Katargina LA; Kutsev SI; Zinchenko RA
    J Med Genet; 2021 Apr; 58(4):270-274. PubMed ID: 32467297
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
    Lind KT; Cost NG; Zegar K; Kuldanek SA; Enzenauer RW; Schneider KW
    Ophthalmic Genet; 2021 Apr; 42(2):216-217. PubMed ID: 33300417
    [No Abstract]   [Full Text] [Related]  

  • 7. PAX6 mutations: genotype-phenotype correlations.
    Tzoulaki I; White IM; Hanson IM
    BMC Genet; 2005 May; 6():27. PubMed ID: 15918896
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
    Daruich A; Robert MP; Leroy C; DE Vergnes N; Beugnet C; Malan V; Valleix S; Bremond-Gignac D
    Am J Ophthalmol; 2022 May; 237():122-129. PubMed ID: 34942114
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular aspects of aniridia.
    Kokotas H; Petersen MB
    Clin Genet; 2010 May; 77(5):409-20. PubMed ID: 20132240
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.
    Nakayama T; Fisher M; Nakajima K; Odeleye AO; Zimmerman KB; Fish MB; Yaoita Y; Chojnowski JL; Lauderdale JD; Netland PA; Grainger RM
    Dev Biol; 2015 Dec; 408(2):328-44. PubMed ID: 25724657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Isolated aniridia caused by a novel
    Torrefranca AB; Carmona SM; Santiago APD; Cutiongco-Dela Paz E; Lingao MD
    Ophthalmic Genet; 2023 Oct; 44(5):501-504. PubMed ID: 36440799
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
    Wawrocka A; Sikora A; Kuszel L; Krawczynski MR
    J Appl Genet; 2013 Aug; 54(3):345-51. PubMed ID: 23761016
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic dissection of Pax6 dosage requirements in the developing mouse eye.
    Davis-Silberman N; Kalich T; Oron-Karni V; Marquardt T; Kroeber M; Tamm ER; Ashery-Padan R
    Hum Mol Genet; 2005 Aug; 14(15):2265-76. PubMed ID: 15987699
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Morphometric analysis of the lens in human aniridia and mouse Small eye.
    Voskresenskaya A; Pozdeyeva N; Batkov Y; Vasilyeva T; Marakhonov A; West RA; Caplan JL; Cvekl A; Wang Y; Duncan MK
    Exp Eye Res; 2021 Feb; 203():108371. PubMed ID: 33248069
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Aniridia.
    Hingorani M; Hanson I; van Heyningen V
    Eur J Hum Genet; 2012 Oct; 20(10):1011-7. PubMed ID: 22692063
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
    Sonoda S; Isashiki Y; Tabata Y; Kimura K; Kakiuchi T; Ohba N
    Graefes Arch Clin Exp Ophthalmol; 2000 Jul; 238(7):552-8. PubMed ID: 10955655
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.
    Liu X; Zhang Y; Zhang B; Gao H; Qiu C
    Mol Genet Genomic Med; 2020 May; 8(5):e1198. PubMed ID: 32125788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel variant in PAX6 as the cause of aniridia in a Chinese family.
    Jin X; Liu W; Qv LH; X WQ; Huang HB
    BMC Ophthalmol; 2021 May; 21(1):225. PubMed ID: 34016071
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
    Hall HN; Parry D; Halachev M; Williamson KA; Donnelly K; Campos Parada J; Bhatia S; Joseph J; Holden S; Prescott TE; Bitoun P; Kirk EP; Newbury-Ecob R; Lachlan K; Bernar J; van Heyningen V; FitzPatrick DR; Meynert A
    J Med Genet; 2024 Feb; 61(3):250-261. PubMed ID: 38050128
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
    Kit V; Cunha DL; Hagag AM; Moosajee M
    JCI Insight; 2021 Jul; 6(14):. PubMed ID: 34101622
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.