154 related articles for article (PubMed ID: 38002984)
1. Epidemiology of
Vasilyeva TA; Marakhonov AV; Voskresenskaya AA; Kadyshev VV; Sukhanova NV; Minzhenkova ME; Shilova NV; Latyshova AA; Ginter EK; Kutsev SI; Zinchenko RA
Genes (Basel); 2023 Nov; 14(11):. PubMed ID: 38002984
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F; Palomares M; Vallespín E; Villaverde C; Martín-Arenas R; Vélez-Monsalve C; Lorda-Sánchez I; Nevado J; Trujillo-Tiebas MJ; Lapunzina P; Ayuso C; Corton M
PLoS One; 2017; 12(2):e0172363. PubMed ID: 28231309
[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. 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]
6. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
Redeker EJ; de Visser AS; Bergen AA; Mannens MM
Mol Vis; 2008 May; 14():836-40. PubMed ID: 18483559
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutation spectrum of
You B; Zhang X; Xu K; Xie Y; Ye H; Li Y
Mol Vis; 2020; 26():226-234. PubMed ID: 32214788
[TBL] [Abstract][Full Text] [Related]
9.
Souzeau E; Rudkin AK; Dubowsky A; Casson RJ; Muecke JS; Mancel E; Whiting M; Mills RAD; Burdon KP; Craig JE
Mol Vis; 2018; 24():261-273. PubMed ID: 29618921
[TBL] [Abstract][Full Text] [Related]
10. Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K; Wawrocka A; Krawczynski MR
Congenit Anom (Kyoto); 2023 Jul; 63(4):109-115. PubMed ID: 37191119
[TBL] [Abstract][Full Text] [Related]
11. Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.
Zhang R; Linpeng S; Wei X; Li H; Huang Y; Guo J; Wu Q; Liang D; Wu L
Eye (Lond); 2017 Jun; 31(6):956-961. PubMed ID: 28157223
[TBL] [Abstract][Full Text] [Related]
12. WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Huynh MT; Boudry-Labis E; Duban B; Andrieux J; Tran CT; Tampere H; Ceraso D; Manouvrier S; Tachdjian G; Roche-Lestienne C; Vincent-Delorme C
Am J Med Genet A; 2017 Jun; 173(6):1690-1693. PubMed ID: 28398607
[TBL] [Abstract][Full Text] [Related]
13. Relative Frequencies of
Vasilyeva TA; Marakhonov AV; Kutsev SI; Zinchenko RA
Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743132
[TBL] [Abstract][Full Text] [Related]
14. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Damián A; Núñez-Moreno G; Jubin C; Tamayo A; de Alba MR; Villaverde C; Fund C; Delépine M; Leduc A; Deleuze JF; Mínguez P; Ayuso C; Corton M
Hum Genomics; 2023 Jun; 17(1):45. PubMed ID: 37269011
[TBL] [Abstract][Full Text] [Related]
15. PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Pérez-Solórzano S; Chacón-Camacho OF; Astiazarán MC; Ledesma-Gil G; Zenteno JC
Clin Exp Ophthalmol; 2017 Dec; 45(9):875-883. PubMed ID: 28488383
[TBL] [Abstract][Full Text] [Related]
16. Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.
Vasilyeva TA; Marakhonov AV; Sukhanova NV; Kutsev SI; Zinchenko RA
Genes (Basel); 2020 Jul; 11(7):. PubMed ID: 32708836
[TBL] [Abstract][Full Text] [Related]
17. Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism.
Bai Z; Kong X
Mol Genet Genomic Med; 2018 Nov; 6(6):1053-1067. PubMed ID: 30334364
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
Giray Bozkaya O; Ataman E; Aksel Kilicarslan O; Cankaya T; Ulgenalp A
Mol Med Rep; 2016 Sep; 14(3):2150-4. PubMed ID: 27431685
[TBL] [Abstract][Full Text] [Related]
19. Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY; Huff V; Strong LC; Saunders GF
Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978
[TBL] [Abstract][Full Text] [Related]
20. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
Crolla JA; van Heyningen V
Am J Hum Genet; 2002 Nov; 71(5):1138-49. PubMed ID: 12386836
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
