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EP06.68: Microphthalmia‐anophthalmia in a tertiary centre: frequency and most relevant associated malformations evaluated by MRI in a 19‐year period.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 165, doi. 10.1002/uog.28239
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- Article
From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
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- 2022
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- Publication type:
- Case Study
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.
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- Child's Nervous System, 2021, v. 37, n. 8, p. 2713, doi. 10.1007/s00381-020-05035-1
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- Article
Conditional Ablation of Spred1 and Spred2 in the Eye Lens Negatively Impacts Its Development and Growth.
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- Cells (2073-4409), 2024, v. 13, n. 4, p. 290, doi. 10.3390/cells13040290
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- 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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- Publication type:
- Article
VP24.06: Unilateral microphthalmia and CNS‐associated anomalies: management and prognosis.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 201, doi. 10.1002/uog.24393
- Publication type:
- Article
VP10.19: Congenital diaphragmatic hernia and bilateral microphthalmia: prenatal diagnosis of microphthalmia syndrome type 12.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 92, doi. 10.1002/uog.22476
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- Article
OP02.11: The eyes hide surprises: unilateral microphthalmia with severe bilateral colobomatous involvement.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 91, doi. 10.1002/uog.20667
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- Article
Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.
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- International Journal of Dermatology, 2020, v. 59, n. 7, p. 864, doi. 10.1111/ijd.14905
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- Article
Our experience with a severe case of aplasia cutis congenita with a large skull defect.
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- International Journal of Dermatology, 2016, v. 55, n. 10, p. 1151, doi. 10.1111/ijd.13008
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- Article
Scleral Fixated Intraocular Lens in Aphakic Patient with Bilateral Microcornea and Microphthalmia.
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- International Medical Case Reports Journal, 2021, v. 14, p. 365, doi. 10.2147/IMCRJ.S316328
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- Article
A familial study of Hallermann-Streiff-François syndrome.
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- International Medical Case Reports Journal, 2017, v. 10, p. 193, doi. 10.2147/IMCRJ.S114115
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- Publication type:
- Article
Anophthalmia and serious microphthalmia: a summary of the problems associated with antenatal diagnosis and therapeutic refunding in Sub-Saharan Africa.
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- International Medical Case Reports Journal, 2015, v. 8, p. 287, doi. 10.2147/IMCRJ.S87874
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- Publication type:
- Article
Choroidal thickness findings in two siblings with nanophthalmos by swept source-OCT: a case report.
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- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-016-2359-x
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- Article
Retinal Wnt signaling defect in a zebrafish fetal alcohol spectrum disorder model.
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- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201659
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- Article
A case of Hallermann-Streiff-François syndrome: an ophthalmological perspective.
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- Malta Medical Journal, 2017, v. 29, n. 2, p. 32
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- Article
SOX5 is involved in balanced MITF regulation in human melanoma cells.
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- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0170-0
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- Publication type:
- Article
Surgical removal of the lens with vitrectomy in patients with nanophthalmos and glaucoma.
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- Acta Ophthalmologica Polonica / Klinika Oczna, 2021, v. 123, n. 3, p. 145, doi. 10.5114/ko.2021.110006
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- Article
Orodental findings in Hallermann-Streiff syndrome.
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- Indian Journal of Dental Research, 2012, v. 23, n. 1, p. 119, doi. 10.4103/0970-9290.99063
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- Article
Efficacy of fitting HydroCone (Toris K) contact lenses for the visual rehabilitation of patients with posterior microphthalmos.
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- Arquivos Brasileiros de Oftalmologia, 2023, v. 86, n. 4, p. 330, doi. 10.5935/0004-2749.20230051
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- 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
Microphthalmia-associated transcription factor regulates skin melanoblast migration by repressing the melanoma cell adhesion molecule.
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- Experimental Dermatology, 2016, v. 25, n. 1, p. 74, doi. 10.1111/exd.12835
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- Article
Microphthalmia-associated transcription factor expression levels in melanoma cells contribute to cell invasion and proliferation.
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- Experimental Dermatology, 2015, v. 24, n. 7, p. 481, doi. 10.1111/exd.12724
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- Article
Optical Coherence Tomography of Bilateral Nanophthalmos with Macular Folds and High Hyperopia.
- Published in:
- 2014
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- Publication type:
- Case Study
Congenital Unilateral Corneal Anaesthesia with Microphthalmos: A Case Report.
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- Case Reports in Ophthalmological Medicine, 2012, p. 1, doi. 10.1155/2012/703183
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- Article
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2492437
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- Article
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
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- Publication type:
- Article
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 337, doi. 10.1038/ejhg.2014.119
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- Article
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 419, doi. 10.1038/ejhg.2013.157
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- Article
First isolation and genetic characterization of a Toxoplasma gondii strain from a symptomatic human case of congenital toxoplasmosis in Romania.
- Published in:
- 2013
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- Publication type:
- Case Study
Clinical Approach to Nanophthalmus: Diagnosis and Management Features.
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- Journal of Glaucoma-Cataract / Glokom-Katarakt, 2020, v. 15, n. 1, p. 8, doi. 10.37844/glauc.cat.2020.15.2
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- Article
Nanophthalmos and Glaucoma.
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- Journal of Glaucoma-Cataract / Glokom-Katarakt, 2020, v. 15, n. 1, p. 1, doi. 10.37844/glauc.cat.2020.15.1
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- Publication type:
- Article
Management of Bilateral Pupillary Membrane and Congenital Cataract in a Patient with Microphthalmos.
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- Journal of Glaucoma-Cataract / Glokom-Katarakt, 2013, v. 8, n. 4, p. 278
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- Publication type:
- Article
Establishment of the neurogenic boundary of the mouse retina requires cooperation of SOX2 and WNT signaling.
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- Neural Development, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1749-8104-9-27
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- Article
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2669, doi. 10.3390/ijms25052669
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- 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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- 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.
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- 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.
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- 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.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 9, p. 20240, doi. 10.3390/ijms160920240
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- Publication type:
- Article
A mosaic form of microphthalmia with linear skin defects.
- Published in:
- 2018
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- Publication type:
- journal article
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0678-6
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- Publication type:
- Article
Combined 23-G Pars Plana Vitrectomy and Lensectomy in the Management of Glaucoma Associated with Nanophthalmos.
- Published in:
- Ophthalmic Research, 2017, v. 59, n. 1, p. 37, doi. 10.1159/000477620
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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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- 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
A naturally occurring canine model of syndromic congenital microphthalmia.
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- G3: Genes | Genomes | Genetics, 2024, v. 14, n. 6, p. 1, doi. 10.1093/g3journal/jkae067
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- Publication type:
- Article
Femtosecond LASER-Assisted Double Intraocular Lens Exchange in Nanophthalmic Eyes.
- Published in:
- 2024
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- Publication type:
- Case Study
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study