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Population-based risk estimates of Wilms tumor in sporadic aniridia: A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 11, doi. 10.1007/s004390100529
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- Publication type:
- Article
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38007-2
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- Publication type:
- Article
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37272-5
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- Publication type:
- Article
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
- Published in:
- Clinical Epigenetics, 2015, v. 7, p. 1, doi. 10.1186/s13148-015-0143-8
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- Publication type:
- Article
Clinical utility gene card for: Oculocutaneous albinism.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1, doi. 10.1038/ejhg.2013.307
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- Publication type:
- Article
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1345, doi. 10.3390/ijms22031345
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- Publication type:
- Article
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0292-4
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- Publication type:
- Article
Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples.
- Published in:
- 2016
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- Publication type:
- journal article
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 690, doi. 10.3390/genes14030690
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- Publication type:
- Article
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 435, doi. 10.3390/genes14020435
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- Publication type:
- Article
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1517, doi. 10.3390/genes11121517
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- Publication type:
- Article
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 119, doi. 10.1038/ejhg.2011.140
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- Publication type:
- Article
A nonsense mutation in FMR1 causing fragile X syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 489, doi. 10.1038/ejhg.2010.223
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- Publication type:
- Article
Analysis of FMR1 (CGG)<sub>n</sub> alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374
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- Publication type:
- Article
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 274
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- Publication type:
- Article
Prevalence and causes of infantile nystagmus in a large population‐based Danish cohort.
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 5, p. 506, doi. 10.1111/aos.14354
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- Publication type:
- Article
A family with bilateral symmetrical sectoral pigmentary retinal lesions – a 50‐year‐old case solved.
- Published in:
- 2019
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- Publication type:
- Case Study
Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 8, p. 762, doi. 10.1111/aos.12835
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- Publication type:
- Article
Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 7, p. 670, doi. 10.1111/aos.12378
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- Publication type:
- Article
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203.
- Published in:
- 2009
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- Publication type:
- Letter
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 902, doi. 10.1111/cge.13727
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- Publication type:
- Article
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy.
- Published in:
- 2022
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- Publication type:
- Case Study
Increasing the complexity: new genes and new types of albinism.
- Published in:
- Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 11, doi. 10.1111/pcmr.12167
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- Publication type:
- Article
Oculocutaneous albinism.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 43, doi. 10.1186/1750-1172-2-43
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- Publication type:
- Article
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.
- Published in:
- 2009
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- Publication type:
- Case Study
Phenotypic characteristics of Danish patients with achromatopsia.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 6, p. e893, doi. 10.1111/aos.16656
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- Publication type:
- Article
Long‐term risk of glaucoma after cataract surgery in childhood.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 6, p. 667, doi. 10.1111/aos.16636
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- Publication type:
- Article
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
- Published in:
- 2015
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- Publication type:
- Case Study
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 49, doi. 10.1186/1471-2350-12-49
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- Publication type:
- Article
Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes.
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. 429, doi. 10.1002/humu.21204
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- Publication type:
- Article
Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database.
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- Human Mutation, 2018, v. 39, n. 3, p. 345, doi. 10.1002/humu.23382
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- Publication type:
- Article
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2197, doi. 10.1002/ajmg.a.36058
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- Publication type:
- Article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
- Published in:
- 2021
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- Publication type:
- journal article
Causes of poor eye contact in infants: a population-based study.
- Published in:
- 2021
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- Publication type:
- journal article
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228
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- Publication type:
- Article
Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122662
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- Publication type:
- Article
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.
- Published in:
- 2013
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- Publication type:
- journal article
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci.
- Published in:
- Diabetes Care, 2013, v. 36, n. 3, p. 505, doi. 10.2337/dc12-0700
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- Publication type:
- Article