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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53553-2
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- Publication type:
- Article
Unilateral optic nerve aplasia associated with microphthalmos.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2012, v. 69, n. 3, p. 286, doi. 10.2298/VSP1203286S
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- Publication type:
- Article
Transcriptional activation of hepcidin by the microphthalmia/transcription factor E family.
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- Cell Biochemistry & Function, 2022, v. 40, n. 7, p. 742, doi. 10.1002/cbf.3739
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- Publication type:
- Article
Anterior Segment Developmental Anomalies in a 33-Week-Old Fetus with MIDAS Syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study
Fryns Anophthalmia-Plus Syndrome in an 18-Week-Old Fetus.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 58, doi. 10.2350/10-07-0880-CR.1
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- Article
Unclassified renal cell carcinoma with tubulopapillary architecture, clear cell phenotype, and chromosome 8 monosomy: a new kid on the block.
- Published in:
- 2016
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- Publication type:
- journal article
Acteoside inhibits melanogenesis in B16F10 cells through ERK activation and tyrosinase down-regulation.
- Published in:
- Journal of Pharmacy & Pharmacology, 2011, v. 63, n. 10, p. 1309, doi. 10.1111/j.2042-7158.2011.01335.x
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- Publication type:
- Article
Sphingosylphosphorylcholine inhibits melanin synthesis via pertussis toxin-sensitive MITF degradation.
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- Journal of Pharmacy & Pharmacology, 2010, v. 62, n. 2, p. 181, doi. 10.1211/jpp.62.02.0005
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- Publication type:
- Article
Demographics and histopathological characteristics of enucleated microphthalmic globes.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09261-2
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- Publication type:
- Article
Nasal Reconstruction in a Rare Case of Unilateral Arhinia in Bosma Arhinia Microphthalmia Syndrome.
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- Turkish Journal of Plastic Surgery, 2024, v. 32, n. 1, p. 38, doi. 10.4103/tjps.tjps_53_23
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- Article
An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.
- Published in:
- 2018
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- Publication type:
- journal article
Manifestaciones clínicas del espectro óculo aurículo vertebral.
- Published in:
- CES Odontología, 2015, v. 28, n. 1, p. 76
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- Publication type:
- Article
Amelanotic melanoma: a detailed morphologic analysis with clinicopathologic correlation of 75 cases.
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- Journal of Cutaneous Pathology, 2012, v. 39, n. 1, p. 33, doi. 10.1111/j.1600-0560.2011.01808.x
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- Publication type:
- Article
<italic>FOXE3</italic> mutations: genotype‐phenotype correlations.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 4, p. 837, doi. 10.1111/cge.13177
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- Publication type:
- Article
New mutations in GJA8 expand the phenotype to include total sclerocornea.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 1, p. 155, doi. 10.1111/cge.13045
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- Publication type:
- Article
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
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- Clinical Genetics, 2015, v. 88, n. 5, p. 468, doi. 10.1111/cge.12543
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- Publication type:
- Article
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 475, doi. 10.1111/cge.12379
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- Publication type:
- Article
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
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- Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
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- Publication type:
- Article
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
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- Clinical Genetics, 2014, v. 86, n. 3, p. 276, doi. 10.1111/cge.12277
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- Publication type:
- Article
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 473, doi. 10.1111/cge.12202
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- Publication type:
- Article
Homozygous truncation of SIX6 causes complex microphthalmia in humans.
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- Clinical Genetics, 2013, v. 84, n. 2, p. 198, doi. 10.1111/cge.12046
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- Publication type:
- Article
Mutations in ALDH1A3 cause microphthalmia.
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- Clinical Genetics, 2013, v. 84, n. 2, p. 128, doi. 10.1111/cge.12184
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- Publication type:
- Article
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 244, doi. 10.1111/j.1399-0004.2012.01904.x
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- Publication type:
- Article
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 162, doi. 10.1111/j.1399-0004.2012.01851.x
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- Publication type:
- Article
MICROFTALMIA BILATERAL EM UM POTRO - RELATO DE CASO.
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- Archives of Veterinary Science, 2013, v. 18, n. 3, p. 126
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- Publication type:
- Article
Surgical removal of the lens with vitrectomy in patients with nanophthalmos and glaucoma.
- Published in:
- Acta Ophthalmologica Polonica / Klinika Oczna, 2021, v. 123, n. 3, p. 145, doi. 10.5114/ko.2021.110006
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- Publication type:
- Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-53
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- Publication type:
- Article
Gata2a Mutation Causes Progressive Microphthalmia and Blindness in Nile Tilapia.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3567, doi. 10.3390/ijms24043567
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- Publication type:
- Article
Ferroptosis and Apoptosis Are Involved in the Formation of L-Selenomethionine-Induced Ocular Defects in Zebrafish Embryos.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4783, doi. 10.3390/ijms23094783
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- Publication type:
- Article
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4471, doi. 10.3390/ijms22094471
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- Article
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2190, doi. 10.3390/ijms22042190
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- Article
Lysosome Alterations in the Human Epithelial Cell Line HaCaT and Skin Specimens: Relevance to Psoriasis.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2255, doi. 10.3390/ijms20092255
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- Publication type:
- Article
Downregulation of α-Melanocyte-Stimulating Hormone-Induced Activation of the Pax3-MITF-Tyrosinase Axis by Sorghum Ethanolic Extract in B16F10 Melanoma Cells.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1640, doi. 10.3390/ijms19061640
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- Publication type:
- Article
4-(Phenylsulfanyl)butan-2-One Suppresses Melanin Synthesis and Melanosome Maturation In Vitro and In Vivo.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 9, p. 20240, doi. 10.3390/ijms160920240
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- Publication type:
- Article
Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Posterior microphthalmos with achievement of good visual acuity and disappearance of papillomacular retinal folds: a case report.
- Published in:
- 2022
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- Publication type:
- journal article
Case report: tuberous sclerosis and persistent hyperplastic primary vitreous.
- Published in:
- 2022
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- Publication type:
- journal article
Efficacy of fitting HydroCone (Toris K) contact lenses for the visual rehabilitation of patients with posterior microphthalmos.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2023, v. 86, n. 4, p. 330, doi. 10.5935/0004-2749.20230051
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- Publication type:
- Article
Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report.
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- Arquivos Brasileiros de Oftalmologia, 2022, v. 85, n. 1, p. 85, doi. 10.5935/0004-2749.20220013
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- Publication type:
- Article
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 4, p. 1, doi. 10.1371/journal.pgen.1008583
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- Publication type:
- Article
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008130
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- Publication type:
- Article
Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the Cryba1 gene.
- Published in:
- Biochemical Journal, 2015, v. 471, n. 2, p. 293, doi. 10.1042/BJ20150165
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- Publication type:
- Article
Up and coming: juvenile laryngeal paralysis-polyneuropathy in the Rottweiler and the black Russian Terrier.
- Published in:
- Australian Veterinary Practitioner, 2017, v. 47, n. 2, p. 38
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- Publication type:
- Article
In Vivo Role of Alternative Splicing and Serine Phosphorylation of the Microphthalmia-Associated Transcription Factor.
- Published in:
- Genetics, 2012, v. 191, n. 1, p. 133, doi. 10.1534/genetics.111.135996
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- Publication type:
- Article
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
- Published in:
- 2022
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- Publication type:
- Case Study
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2492437
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- Publication type:
- Article
Synthesis and Melanogenesis Effect of 7,8-Dimethoxy-4-Methylcoumarin via MAPK Signaling-Mediated Microphthalmia-Associated Transcription Factor Upregulation.
- Published in:
- Natural Product Communications, 2022, v. 17, n. 2, p. 1, doi. 10.1177/1934578X221076647
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- Publication type:
- Article
Choroidal thickness findings in two siblings with nanophthalmos by swept source-OCT: a case report.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-016-2359-x
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- Publication type:
- Article
The Management of Congenital Microphthalmia With Orbital Cyst: A Case Series.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2022, v. 59, n. 3, p. 192, doi. 10.3928/01913913-20210929-01
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- Publication type:
- Article
Utility of Anterior Segment Optical Coherence Tomography in Muscle Aplasia.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2022, v. 59, n. 2, p. e20, doi. 10.3928/01913913-20211206-02
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- Publication type:
- Article