Browse by UCL people
Group by: Type | Date
Number of items: 11.
Article
Asfahani, R;
Tahoun, MM;
Miller-Hodges, EV;
Bellerby, J;
Virasami, AK;
Sampson, RD;
Moulding, D;
... Waters, AM; + view all
(2018)
Activation of podocyte Notch mediates early Wt1 glomerulopathy.
Kidney International
10.1016/j.kint.2017.11.014.
(In press).
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Balogh, E;
Chandler, J;
Varga, M;
Tahoun, M;
Menyhárd, DK;
Schay, G;
Goncalves, T;
... Tory, K; + view all
(2020)
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
, 117
(26)
pp. 15137-15147.
10.1073/pnas.2002328117.
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Chesher, D;
Oddy, M;
Darbar, U;
Sayal, P;
Casey, A;
Ryan, A;
Sechi, A;
... Murphy, E; + view all
(2018)
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Journal of Inherited Metabolic Disease
, 41
(5)
pp. 865-876.
10.1007/s10545-018-0147-6.
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Dufek, S;
Cheshire, C;
Levine, AP;
Trompeter, RS;
Issler, N;
Stubbs, M;
Mozere, M;
... Bockenhauer, D; + view all
(2019)
Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome.
Journal of the American Society of Nephrology
, 30
(8)
pp. 1375-1384.
10.1681/ASN.2018101054.
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Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
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Selman, L;
Henriksen, ML;
Brandt, J;
Palarasah, Y;
Waters, A;
Beales, PL;
Holmskov, U;
... Hansen, S; + view all
(2012)
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1).
Journal of Immunological Methods
, 375
(1-2)
182 - 188.
10.1016/j.jim.2011.10.010.
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Tahoun, M;
Chandler, JC;
Ashton, E;
Haston, S;
Hannan, A;
Kim, JS;
D'Arco, F;
... Waters, AM; + view all
(2019)
'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'.
The Journal of Clinical Endrocrinology & Metabolism
, 105
(3)
pp. 595-599.
10.1210/clinem/dgz216.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2016)
Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (vol 52, pg 147, 2015).
Journal of Medical Genetics
, 53
(12)
p. 845.
10.1136/jmedgenet-2014-102691corr1.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Journal of Medical Genetics
, 52
(3)
pp. 147-156.
10.1136/jmedgenet-2014-102691.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
, 52
(3)
147 - 156.
10.1136/jmedgenet-2014-102691.
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Thesis
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Waters, AM;
(2013)
Genetic and functional dissection of ciliary genes.
Doctoral thesis , UCL (University College London).
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