BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

325 related articles for article (PubMed ID: 30242502)

  • 1. The genetic architecture of aniridia and Gillespie syndrome.
    Hall HN; Williamson KA; FitzPatrick DR
    Hum Genet; 2019 Sep; 138(8-9):881-898. PubMed ID: 30242502
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
    Ansari M; Rainger J; Hanson IM; Williamson KA; Sharkey F; Harewood L; Sandilands A; Clayton-Smith J; Dollfus H; Bitoun P; Meire F; Fantes J; Franco B; Lorenz B; Taylor DS; Stewart F; Willoughby CE; McEntagart M; Khaw PT; Clericuzio C; Van Maldergem L; Williams D; Newbury-Ecob R; Traboulsi EI; Silva ED; Madlom MM; Goudie DR; Fleck BW; Wieczorek D; Kohlhase J; McTrusty AD; Gardiner C; Yale C; Moore AT; Russell-Eggitt I; Islam L; Lees M; Beales PL; Tuft SJ; Solano JB; Splitt M; Hertz JM; Prescott TE; Shears DJ; Nischal KK; Doco-Fenzy M; Prieur F; Temple IK; Lachlan KL; Damante G; Morrison DA; van Heyningen V; FitzPatrick DR
    PLoS One; 2016; 11(4):e0153757. PubMed ID: 27124303
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
    Glaser T; Ton CC; Mueller R; Petzl-Erler ML; Oliver C; Nevin NC; Housman DE; Maas RL
    Genomics; 1994 Jan; 19(1):145-8. PubMed ID: 8188215
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
    Blanco-Kelly F; Tarilonte M; Villamar M; Damián A; Tamayo A; Moreno-Pelayo MA; Ayuso C; Cortón M
    Arch Soc Esp Oftalmol (Engl Ed); 2021 Nov; 96 Suppl 1():4-14. PubMed ID: 34836588
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel Intragenic
    Boese EA; Tollefson MR; Schnieders MJ; Darbro BW; Alward WLM; Fingert JH
    Curr Eye Res; 2020 Jan; 45(1):91-96. PubMed ID: 31361967
    [No Abstract]   [Full Text] [Related]  

  • 6. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
    Dentici ML; Barresi S; Nardella M; Bellacchio E; Alfieri P; Bruselles A; Pantaleoni F; Danieli A; Iarossi G; Cappa M; Bertini E; Tartaglia M; Zanni G
    Gene; 2017 Sep; 628():141-145. PubMed ID: 28698159
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
    Carvalho DR; Medeiros JEG; Ribeiro DSM; Martins BJAF; Sobreira NLM
    Eur J Med Genet; 2018 Mar; 61(3):134-138. PubMed ID: 29169895
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    De Silva D; Williamson KA; Dayasiri KC; Suraweera N; Quinters V; Abeysekara H; Wanigasinghe J; De Silva D; De Silva H
    BMC Pediatr; 2018 Sep; 18(1):308. PubMed ID: 30249237
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
    Ticho BH; Hilchie-Schmidt C; Egel RT; Traboulsi EI; Howarth RJ; Robinson D
    Ophthalmic Genet; 2006 Dec; 27(4):145-9. PubMed ID: 17148041
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
    Keehan L; Jiang MM; Li X; Marom R; Dai H; Murdock D; Liu P; Hunter JV; Heaney JD; Robak L; Emrick L; Lotze T; Blieden LS; ; Lewis RA; Levin AV; Capasso J; Craigen WJ; Rosenfeld JA; Lee B; Burrage LC
    Am J Med Genet A; 2021 Aug; 185(8):2315-2324. PubMed ID: 33949769
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Gillespie syndrome: an uncommon presentation of congenital aniridia].
    Defreyn A; Maugery J; Chabrier S; Coullet J
    J Fr Ophtalmol; 2007 Jan; 30(1):e1. PubMed ID: 17287663
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
    Blanco-Kelly F; Tarilonte M; Villamar M; Damián A; Tamayo A; Moreno-Pelayo MA; Ayuso C; Cortón M
    Arch Soc Esp Oftalmol (Engl Ed); 2021 Jul; ():. PubMed ID: 34243981
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
    Vasilyeva TA; Voskresenskaya AA; Käsmann-Kellner B; Khlebnikova OV; Pozdeyeva NA; Bayazutdinova GM; Kutsev SI; Ginter EK; Semina EV; Marakhonov AV; Zinchenko RA
    Clin Genet; 2017 Dec; 92(6):639-644. PubMed ID: 28321846
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
    Kinoshita A; Ohyama K; Tanimura S; Matsuda K; Kishino T; Negishi Y; Asahina N; Shiraishi H; Hosoki K; Tomiwa K; Ishihara N; Mishima H; Mori R; Nakashima M; Saitoh S; Yoshiura KI
    Development; 2021 Aug; 148(16):. PubMed ID: 34338282
    [TBL] [Abstract][Full Text] [Related]  

  • 17. WAGR syndrome--a case report.
    Mahale A; Poornima V; Shrestha M
    Nepal Med Coll J; 2007 Jun; 9(2):138-40. PubMed ID: 17899969
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
    Paganini L; Pesenti C; Milani D; Fontana L; Motta S; Sirchia SM; Scuvera G; Marchisio P; Esposito S; Cinnante CM; Tabano SM; Miozzo MR
    Am J Med Genet A; 2018 Jun; 176(6):1427-1431. PubMed ID: 29663667
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Present limitations of molecular biological diagnostics in Gillespie syndrome].
    Kieslich M; Vanselow K; Wildhardt G; Gebhardt B; Weis R; Böhles H
    Klin Padiatr; 2001; 213(2):47-9. PubMed ID: 11305191
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 17.