Found: 22
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Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
- Published in:
- 2016
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- Publication type:
- Case Study
Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1948, doi. 10.3390/genes14101948
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- Publication type:
- Article
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 216, doi. 10.3390/genes14010216
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- Publication type:
- Article
Novel Genetic Diagnoses in Septo-Optic Dysplasia.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1165, doi. 10.3390/genes13071165
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- Publication type:
- Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80
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- Publication type:
- Article
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 2, p. 1, doi. 10.1371/journal.pgen.1005002
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- Publication type:
- Article
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 437, doi. 10.1111/cge.13897
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- Publication type:
- Article
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 486, doi. 10.1111/cge.13824
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- Publication type:
- Article
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 502, doi. 10.1111/cge.13660
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- Publication type:
- Article
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1775, doi. 10.1007/s00439-021-02384-y
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- Publication type:
- Article
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 847, doi. 10.1007/s00439-018-1932-x
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- Publication type:
- Article
Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 267, doi. 10.1002/ajmg.a.34312
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- Publication type:
- Article
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/6619280
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- Publication type:
- Article
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 877, doi. 10.1002/humu.24218
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- Publication type:
- Article
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1485, doi. 10.1002/humu.23299
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- Publication type:
- Article
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 17, p. 1591, doi. 10.1093/hmg/ddab142
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- Publication type:
- Article
PITX2 deficiency and associated human disease: insights from the zebrafish model.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1675, doi. 10.1093/hmg/ddy074
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- Publication type:
- Article
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63542
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- Publication type:
- Article
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 187, doi. 10.1002/ajmg.a.62518
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- Publication type:
- Article
8q21.11 microdeletion in two patients with syndromic peters anomaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2471, doi. 10.1002/ajmg.a.37840
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- Publication type:
- Article
Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 490, doi. 10.1002/mgg3.159
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- Publication type:
- Article