Vote for your favorite mineral in #MinCup25! - Jeremejevite vs. Haüyne
Are you ready for a battle of the blues? In a match of newcomers, volcanic gem hauyne is taking on rare jeremejevite.
Log InRegister
Quick Links : The Mindat ManualThe Rock H. Currier Digital LibraryMindat Newsletter [Free Download]
Home PageAbout MindatThe Mindat ManualHistory of MindatCopyright StatusWho We AreContact UsAdvertise on Mindat
Donate to MindatCorporate SponsorshipSponsor a PageSponsored PagesMindat AdvertisersAdvertise on Mindat
Learning CenterWhat is a mineral?The most common minerals on earthInformation for EducatorsMindat ArticlesThe ElementsThe Rock H. Currier Digital LibraryGeologic Time
Minerals by PropertiesMinerals by ChemistryAdvanced Locality SearchRandom MineralRandom LocalitySearch by minIDLocalities Near MeSearch ArticlesSearch GlossaryMore Search Options
Search For:
Mineral Name:
Locality Name:
Keyword(s):
 
The Mindat ManualAdd a New PhotoRate PhotosLocality Edit ReportCoordinate Completion ReportAdd Glossary Item
Mining CompaniesStatisticsUsersMineral MuseumsClubs & OrganizationsMineral Shows & EventsThe Mindat DirectoryDevice SettingsThe Mineral Quiz
Photo SearchPhoto GalleriesSearch by ColorNew Photos TodayNew Photos YesterdayMembers' Photo GalleriesPast Photo of the Day GalleryPhotography

Tamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta (2023) Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International Journal of Molecular Sciences, 24 (2) 1562 doi:10.3390/ijms24021562

Advanced
   -   Only viewable:
Reference TypeJournal (article/letter/editorial)
TitleMinigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
JournalInternational Journal of Molecular Sciences
AuthorsTamayo, AlejandraAuthor
Núñez-Moreno, GonzaloAuthor
Ruiz, CarolinaAuthor
Plaisancie, JulieAuthor
Damian, AlejandraAuthor
Moya, JenniferAuthor
Chassaing, NicolasAuthor
Calvas, PatrickAuthor
Ayuso, CarmenAuthor
Minguez, PabloAuthor
Corton, MartaAuthor
Year2023 (January 13)Volume24
Issue2
PublisherMDPI AG
DOIdoi:10.3390/ijms24021562Search in ResearchGate
Generate Citation Formats
Mindat Ref. ID15671602Long-form Identifiermindat:1:5:15671602:6
GUID0
Full ReferenceTamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta (2023) Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International Journal of Molecular Sciences, 24 (2) 1562 doi:10.3390/ijms24021562
Plain TextTamayo, Alejandra, Núñez-Moreno, Gonzalo, Ruiz, Carolina, Plaisancie, Julie, Damian, Alejandra, Moya, Jennifer, Chassaing, Nicolas, Calvas, Patrick, Ayuso, Carmen, Minguez, Pablo, Corton, Marta (2023) Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International Journal of Molecular Sciences, 24 (2) 1562 doi:10.3390/ijms24021562
In(2023, January) International Journal of Molecular Sciences Vol. 24 (2) MDPI AG

See Also

These are possibly similar items as determined by title/reference text matching only.

Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta (2021) Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts. International Journal of Molecular Sciences, 22 (23) 12713pp. doi:10.3390/ijms222312713
Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo (2022) Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies. International Journal of Molecular Sciences, 23 (15) 8431 doi:10.3390/ijms23158431
Mehta, Zubin, Touma, Marlin (2023) Post-Transcriptional Modification by Alternative Splicing and Pathogenic Splicing Variants in Cardiovascular Development and Congenital Heart Defects. International Journal of Molecular Sciences, 24 (2) 1555 doi:10.3390/ijms24021555
Rodilla, Cristina; Núñez-Moreno, Gonzalo; Benitez, Yolanda; Rodríguez de Alba, Marta; Blanco-Kelly, Fiona; López-Alcojor, Aroa; Fernández-Caballero, Lidia; Perea-Romero, Irene; Del Pozo-Valero, Marta; García-García, Gema; et al. (2025) Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies. International Journal of Molecular Sciences, 26 (8). doi:10.3390/ijms26083825
Mascaraque, Marta, Delgado-Wicke, Pablo, Damian, Alejandra, Lucena, Silvia, Carrasco, Elisa, Juarranz, Ángeles (2019) Mitotic Catastrophe Induced in HeLa Tumor Cells by Photodynamic Therapy with Methyl-aminolevulinate. International Journal of Molecular Sciences, 20. 1229pp. doi:10.3390/ijms20051229
Tirado-Garibay, Ana Carolina, Falcón-Ruiz, Elba Andrea, Ochoa-Zarzosa, Alejandra, López-Meza, Joel E. (2023) GPER: An Estrogen Receptor Key in Metastasis and Tumoral Microenvironments. International Journal of Molecular Sciences, 24 (19) 14993 doi:10.3390/ijms241914993
Sánchez-García, Sergio, Moreno-Tamayo, Karla, Ramírez-Aldana, Ricardo, García-Peña, Carmen, Medina-Campos, Raúl Hernán, García dela Torre, Paola, Rivero-Segura, Nadia Alejandra (2023) Insomnia Impairs Both the Pro-BDNF and the BDNF Levels Similarly to Older Adults with Cognitive Decline: An Exploratory Study. International Journal of Molecular Sciences, 24 (8) 7387 doi:10.3390/ijms24087387
Ferre-Fernández, Jesús-José, Aroca-Aguilar, José-Daniel, Medina-Trillo, Cristina, Bonet-Fernández, Juan-Manuel, Méndez-Hernández, Carmen-Dora, Morales-Fernández, Laura, Corton, Marta, Cabañero-Valera, María-José, Gut, Marta, Tonda, Raul, Ayuso, Carmen, Coca-Prados, Miguel, García-Feijoo, Julián, Escribano, Julio (2017) Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Scientific Reports, 7. doi:10.1038/srep46175
Plaisancié, Julie, Chesneau, Bertrand, Fares-Taie, Lucas, Rozet, Jean-Michel, Pechmeja, Jacmine, Noero, Julien, Gaston, Véronique, Bailleul-Forestier, Isabelle, Calvas, Patrick, Chassaing, Nicolas (2024) Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia. International Journal of Molecular Sciences, 25 (5) 2669 doi:10.3390/ijms25052669
Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu., Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A. (2023) Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. International Journal of Molecular Sciences, 24 (21) 15527 doi:10.3390/ijms242115527
de la Fuente, Lorena, Del Pozo-Valero, Marta, Perea-Romero, Irene, Blanco-Kelly, Fiona, Fernández-Caballero, Lidia, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo (2023) Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International Journal of Molecular Sciences, 24 (2) 1661 doi:10.3390/ijms24021661
 
and/or  
Mindat.org is an outreach project of the Hudson Institute of Mineralogy, a 501(c)(3) not-for-profit organization.
Copyright © mindat.org and the Hudson Institute of Mineralogy 1993-2025, except where stated. Most political location boundaries are © OpenStreetMap contributors. Mindat.org relies on the contributions of thousands of members and supporters. Founded in 2000 by Jolyon Ralph.
To cite: Ralph, J., Von Bargen, D., Martynov, P., Zhang, J., Que, X., Prabhu, A., Morrison, S. M., Li, W., Chen, W., & Ma, X. (2025). Mindat.org: The open access mineralogy database to accelerate data-intensive geoscience research. American Mineralogist, 110(6), 833–844. doi:10.2138/am-2024-9486.
Privacy Policy - Terms & Conditions - Contact Us / DMCA issues - Report a bug/vulnerability Current server date and time: September 3, 2025 18:11:22
Go to top of page