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PubPharm (168)
71
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches
enthalten in:
European journal of human genetics : EJHG
| 2020
von
Eintracht, J.
|
Corton, M.
|
FitzPatrick, D.
| +1
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72
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
enthalten in:
Journal of human genetics
| 2020
von
Zazo-Seco, C.
|
Plaisancié, J.
|
Bitoun, P.
| +12
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73
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
enthalten in:
Human genetics
| 2020
von
Bonet-Fernández, J.
|
Aroca-Aguilar, J.
|
Corton, M.
| +17
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74
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
enthalten in:
Human genetics
| 2020
von
Bonet-Fernández, J.
|
Aroca-Aguilar, J.
|
Corton, M.
| +17
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75
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
enthalten in:
Human genetics
| 2020
von
Bonet-Fernández, J.
|
Aroca-Aguilar, J.
|
Corton, M.
| +17
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76
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
enthalten in:
Scientific reports
| 2020
von
Lukovic, D.
|
Artero Castro, A.
|
Kaya, K.
| +9
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77
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
enthalten in:
Molecular vision
| 2020
von
García-García, G.
|
Sanchez-Navarro, I.
|
Aller, E.
| +16
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78
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
enthalten in:
Genes
| 2019
von
Lima Cunha, D.
|
Arno, G.
|
Corton, M.
| +1
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79
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1
enthalten in:
American journal of ophthalmology
| 2019
von
Del Pozo-Valero, M.
|
Martin-Merida, I.
|
Jimenez-Rolando, B.
| +10
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80
NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia
enthalten in:
Cell stem cell
| 2019
von
Román-Rodríguez, F.
|
Ugalde, L.
|
Álvarez, L.
| +15
CommentIn: Cell Stem Cell. 2019 Nov 7;25(5):592-593. - PMID 31703769
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Orphanet journal of rare diseases
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bioRxiv.org
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International journal of molecular sciences
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European journal of human genetics : EJHG
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109
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22
Eye Proteins
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ABCA4 protein, human
8
ATP-Binding Cassette Transporters
8
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Biology
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570
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9007-49-2
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Adaptor Proteins, Signal Transducing
6
Aniridia
6
DNA
6
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Extracellular Matrix Proteins
6
Microtubule-Associated Proteins
6
Published Erratum
5
PAX6 Transcription Factor
5
PAX6 protein, human
5
Research Support, N.I.H., Extramural
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