Browse by UCL people
Group by: Type | Date
Number of items: 11.
Article
Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
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Kinsler, VA;
Polubothu, S;
Calonje, JE;
Chong, WK;
Thompson, D;
Jacques, TS;
Morrogh, D;
(2016)
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.
Acta Neuropathologica
, 133
(2)
pp. 329-331.
10.1007/s00401-016-1651-0.
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Plumptre, I;
Polubothu, S;
Thomas, D;
Kinsler, V;
(2017)
White Eyelashes and Red Eyes in a 7‐Year‐Old Boy.
Pediatric Dermatology
, 34
(5)
pp. 612-613.
10.1111/pde.13213.
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Polubothu, S;
A-Olabi, L;
Carmen Del Boente, M;
Chacko, A;
Eleftheriou, G;
Glover, M;
Jiménez-Gallo, D;
... Kinsler, VA; + view all
(2020)
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
Journal of Investigative Dermatology
, 140
(5)
pp. 1110-1113.
10.1016/j.jid.2019.10.019.
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Polubothu, S;
Al-Olabi, L;
Wilson, L;
Chong, WK;
Kinsler, VA;
(2016)
Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome.
British Journal of Dermatology
, 175
(3)
pp. 612-614.
10.1111/bjd.14478.
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Polubothu, S;
Kinsler, VA;
(2020)
Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study.
British Journal of Dermatology
, 182
(3)
pp. 721-728.
10.1111/bjd.18149.
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Polubothu, S;
Kinsler, VA;
(2017)
The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics.
[Letter].
British Journal of Dermatology
, 176
(5)
pp. 1385-1387.
10.1111/bjd.15260.
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Polubothu, S;
McGuire, N;
Al-Olabi, L;
Baird, W;
Bulstrode, N;
Chalker, J;
Josifova, D;
... Kinsler, VA; + view all
(2019)
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.
British Journal of Dermatology
10.1111/bjd.18106.
(In press).
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Polubothu, S;
Scott, RH;
Vabres, P;
Kinsler, VA;
(2017)
Atypical dermal melanocytosis: A diagnostic clue in constitutional mismatch repair deficiency syndrome.
British Journal of Dermatology
10.1111/bjd.15532.
(In press).
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Sliepka, JM;
McGriff, SC;
Rossetti, LZ;
Bizargity, P;
Streff, H;
Lee, Y-S;
Dai, H;
... Marafi, D; + view all
(2019)
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Neurology Genetics
, 5
(6)
, Article e366. 10.1212/NXG.0000000000000366.
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Thesis
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Polubothu, Satyamaanasa;
(2020)
Genetic studies in Congenital Melanocytic Naavi.
Doctoral thesis (Ph.D), UCL (University College London).
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