Browse by UCL people
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Number of items: 7.
Article
Harding, P;
Lima Cunha, D;
Méjécase, C;
Eintracht, J;
Toualbi, L;
Sarkar, H;
Moosajee, M;
(2021)
Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6.
Stem Cell Research
, 51
, Article 102184. 10.1016/j.scr.2021.102184.
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Kit, V;
Lima Cunha, D;
Hagag, AM;
Moosajee, M;
(2021)
Longitudinal genotype-phenotype analysis in 86 PAX6-related aniridia patients.
JCI Insight
, 6
(14)
, Article e148406. 10.1172/jci.insight.148406.
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Lima Cunha, D;
Arno, G;
Corton, M;
Moosajee, M;
(2019)
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Genes
, 10
(12)
, Article 1050. 10.3390/genes10121050.
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Lima Cunha, D;
Oram, A;
Gruber, R;
Plank, R;
Lingenhel, A;
Gupta, MK;
Altmuller, J;
... Hennies, HC; + view all
(2021)
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
International Journal of Molecular Sciences
, 22
(4)
, Article 1785. 10.3390/ijms22041785.
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Lima Cunha, D;
Owen, N;
Tailor, V;
Corton, M;
Theodorou, M;
Moosajee, M;
(2020)
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
European Journal of Human Genetics
10.1038/s41431-020-00737-1.
(In press).
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Lima Cunha, D;
Richardson, R;
Tracey-White, D;
Abbouda, A;
Mitsios, A;
Horneffer-van der Sluis, V;
Takis, P;
... Moosajee, M; + view all
(2021)
REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
JCI Insight
10.1172/jci.insight.146934.
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Méjécase, C;
Harding, P;
Sarkar, H;
Eintracht, J;
Lima Cunha, D;
Toualbi, L;
Moosajee, M;
(2020)
Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions.
Stem Cell Research
, 49
, Article 102113. 10.1016/j.scr.2020.102113.
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