Found: 15
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A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1957, doi. 10.1002/ajmg.a.35414
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- Publication type:
- Article
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
- Published in:
- Scientific Reports, 2016, p. 39179, doi. 10.1038/srep39179
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- Publication type:
- Article
Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 23, p. 7377, doi. 10.3390/jcm12237377
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- Publication type:
- Article
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
- Published in:
- Stem Cells Translational Medicine, 2016, v. 5, n. 8, p. 1098, doi. 10.5966/sctm.2015-0358
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- Publication type:
- Article
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-69640-9
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- Publication type:
- Article
Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.
- Published in:
- Stem Cells, 2016, v. 34, n. 6, p. 1588, doi. 10.1002/stem.2343
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- Publication type:
- Article
Analysis and pharmacological modulation of senescence in human epithelial stem cells.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 14, p. 3977, doi. 10.1111/jcmm.17434
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- Publication type:
- Article
Q-FIHC: Quantification of fluorescence immunohistochemistry to analyse p63 isoforms and cell cycle phases in human limbal stem cells.
- Published in:
- Microscopy Research & Technique, 2006, v. 69, n. 12, p. 983, doi. 10.1002/jemt.20375
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- Article
A new standardized immunofluorescence method for potency quantification (SMPQ) of human conjunctival cell cultures.
- Published in:
- Cell & Tissue Banking, 2021, v. 22, n. 1, p. 145, doi. 10.1007/s10561-020-09874-9
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- Article
Towards xeno-free cultures of human limbal stem cells for ocular surface reconstruction.
- Published in:
- 2017
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- Publication type:
- journal article
C/EBPδ regulates cell cycle and self-renewal of human limbal stem cells.
- Published in:
- Journal of Cell Biology, 2007, v. 177, n. 6, p. 1037, doi. 10.1083/jcb.200703003
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- Publication type:
- Article
Long-term effectiveness of autologous cultured limbal stem cell grafts in patients with limbal stem cell deficiency due to chemical burns.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 3, p. 255, doi. 10.1111/j.1442-9071.2011.02609.x
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- Publication type:
- Article
Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
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- European Journal of Ophthalmology, 2017, v. 27, n. 2, p. 240, doi. 10.5301/ejo.5000879
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- Publication type:
- Article
Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.
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- Cells (2073-4409), 2023, v. 12, n. 3, p. 495, doi. 10.3390/cells12030495
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- Publication type:
- Article
Denuded Descemet's membrane supports human embryonic stem cell-derived retinal pigment epithelial cell culture.
- Published in:
- PLoS ONE, 2023, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0281404
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- Publication type:
- Article