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PubPharm (168)
101
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
enthalten in:
Human genetics
| 2018
von
Ceroni, F.
|
Aguilera-Garcia, D.
|
Chassaing, N.
| +28
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102
Parental Mosaicism in PAX6 Causes Intra-Familial Variability : Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
enthalten in:
Frontiers in genetics
| 2018
von
Tarilonte, M.
|
Morín, M.
|
Ramos, P.
| +12
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103
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
enthalten in:
PloS one
| 2018
von
Pérez-Carro, R.
|
Blanco-Kelly, F.
|
Galbis-Martínez, L.
| +10
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104
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene : c.1635C>A; p.Ser545Arg
enthalten in:
Stem cell research
| 2017
von
Zurita-Díaz, F.
|
Galera-Monge, T.
|
Moreno-Izquierdo, A.
| +4
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105
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development
enthalten in:
Scientific reports
| 2017
von
Ferre-Fernández, J.
|
Aroca-Aguilar, J.
|
Medina-Trillo, C.
| +11
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106
2017 update on the relationship between diabetes and colorectal cancer : epidemiology, potential molecular mechanisms and therapeutic implications
enthalten in:
Oncotarget
| 2017
von
González, N.
|
Prieto, I.
|
Del Puerto-Nevado, L.
| +20
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107
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients : A Novel Genomic Rearrangement
enthalten in:
Investigative ophthalmology & visual science
| 2017
von
Martin-Merida, I.
|
Sanchez-Alcudia, R.
|
Fernandez-San Jose, P.
| +10
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108
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
enthalten in:
PloS one
| 2017
von
Blanco-Kelly, F.
|
Palomares, M.
|
Vallespín, E.
| +9
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109
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
enthalten in:
BMC medical genetics
| 2017
von
Blanco-Kelly, F.
|
Rodrigues-Jacy da Silva, L.
|
Sanchez-Navarro, I.
| +4
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110
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
enthalten in:
BMC medical genetics
| 2017
von
Blanco-Kelly, F.
|
Rodrigues-Jacy da Silva, L.
|
Sanchez-Navarro, I.
| +4
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168
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Human genetics <Berlin>
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7
Orphanet journal of rare diseases
7
bioRxiv.org
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European journal of human genetics : EJHG
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American journal of ophthalmology
3
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3
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Thema
109
Journal Article
75
Research Support, Non-U.S. Gov't
22
Eye Proteins
9
COVID-19
8
ABCA4 protein, human
8
ATP-Binding Cassette Transporters
8
Case Reports
7
Biology
6
570
6
9007-49-2
6
Adaptor Proteins, Signal Transducing
6
Aniridia
6
DNA
6
EC 3.6.1.-
6
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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