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eye genes: Looking forward, glancing back.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.15623
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- Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
- Published in:
- PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0268149
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- Publication type:
- Article
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0256181
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- Article
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish.
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- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005193
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- Article
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome.
- Published in:
- Nature Communications, 2015, v. 6, n. 4, p. 6904, doi. 10.1038/ncomms7904
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- Article
Pleiotropic Effects of Sox2 during the Development of the Zebrafish Epithalamus.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087546
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- Article
Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences.
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- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003177
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- Article
The Developmental Regulator Pax6 Is Essential for Maintenance of Islet Cell Function in the Adult Mouse Pancreas.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054173
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- Article
Aniridia.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1011, doi. 10.1038/ejhg.2012.100
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- Article
DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028616
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- Publication type:
- Article
Clinical utility gene card for: WAGR syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.220
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- Publication type:
- Article
The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000511
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- Article
Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence.
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- PLoS Genetics, 2008, v. 4, n. 2, p. 1, doi. 10.1371/journal.pgen.0040029
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- Publication type:
- Article
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 898, doi. 10.1038/sj.ejhg.5201826
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- Publication type:
- Article
Hsp90 Selectively Modulates Phenotype in Vertebrate Development.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 3, p. 0431, doi. 10.1371/journal.pgen.0030043
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- Publication type:
- Article
Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 12, p. 2030, doi. 10.1093/hmg/ddl127
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- Article
Molecular analysis of a human PAX6 homeobox mutant.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 744, doi. 10.1038/sj.ejhg.5201579
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- Publication type:
- Article
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1413, doi. 10.1093/hmg/ddl064
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- Article
Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 3, p. 534, doi. 10.1111/j.1528-1167.2006.00464.x
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- Article
Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse.
- Published in:
- BMC Developmental Biology, 2006, v. 6, p. 1, doi. 10.1186/1471-213X-6-21
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- Publication type:
- Article
Deficient auditory interhemispheric transfer in patients with PAX6 mutations.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 4, p. 503, doi. 10.1002/ana.20227
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- Publication type:
- Article
Mechanisms of non-Mendelian inheritance in genetic disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 2, p. r225, doi. 10.1093/hmg/ddh254
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- Publication type:
- Article
Mechanisms of non-Mendelian inheritance in genetic disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R225, doi. 10.1093/hmg/ddh254
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- Article
Turned off by RNA.
- Published in:
- Nature Genetics, 2003, v. 34, n. 2, p. 125, doi. 10.1038/ng0603-125
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- Article
Polymicrogyria and absence of pineal gland due to PAX6 mutation.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 658
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- Article
Mutations in SOX2 cause anophthalmia.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 461, doi. 10.1038/ng1120
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- Publication type:
- Article
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066
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- Article
Science and society: Advice to governments: scientific give and take.
- Published in:
- Nature Reviews Genetics, 2002, v. 3, n. 8, p. 631, doi. 10.1038/nrg860
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- Article
Advice to governments: scientific give and take.
- Published in:
- 2002
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- Publication type:
- review
PAX6 in sensory development.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 10, p. 1161, doi. 10.1093/hmg/11.10.1161
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- Publication type:
- Article
Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance.
- Published in:
- Mammalian Genome, 2002, v. 13, n. 2, p. 102, doi. 10.1007/s00335-001-3058-y
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- Article
Short cut to disease genes.
- Published in:
- Nature, 2001, v. 414, n. 6865, p. 705, doi. 10.1038/414705a
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- Article
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2049, doi. 10.1093/hmg/10.19.2049
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- Article
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 214, doi. 10.1038/90042
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- Article
Gene games of the future.
- Published in:
- 2000
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- Publication type:
- Book Review
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 165, doi. 10.1093/hmg/8.2.165
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- Article
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 11, doi. 10.1093/hmg/8.1.11
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- Article
Position effect in human genetic disease.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1611, doi. 10.1093/hmg/7.10.1611
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- Publication type:
- Article
Position effect in human genetic disease.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1611, doi. 10.1093/hmg/7.10.1611
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- Publication type:
- Article
A new set of primers for mutation analysis of the human PAX6 gene.
- Published in:
- Human Mutation, 1998, v. 12, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N
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- Publication type:
- Article
PAX6 mutations reviewed.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 93, doi. 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M
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- Publication type:
- Article
The Human PAX6 Mutation Database.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 1, p. 261, doi. 10.1093/nar/26.1.259
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- Publication type:
- Article
DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 351
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- Article
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 415
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- Publication type:
- Article
One gene--four syndromes.
- Published in:
- Nature, 1994, v. 367, n. 6461, p. 319, doi. 10.1038/367319a0
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- Article
Genome Analysis-Strategies for Physical Mapping.
- Published in:
- Genetics Research, 1993, v. 62, n. 1, p. 83, doi. 10.1017/S0016672300031633
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- Publication type:
- Article
PAX6 mutations in aniridia.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 7, p. 915
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- Publication type:
- Article
Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 3, p. 259
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- Publication type:
- Article
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 2, p. 115
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- Publication type:
- Article
Genome Analysis, Volume 1: Genetic and Physical Mapping.
- Published in:
- Genetics Research, 1991, v. 58, n. 3, p. 261, doi. 10.1017/S0016672300030019
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- Publication type:
- Article