Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, S. Morley, Ana M., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.2016)
Get full text
Journal Article
The UV/Visible Radiation Boundary Region (385-405 nm) Damages Skin Cells and Induces "dark" Cyclobutane Pyrimidine Dimers in Human Skin in vivo
Lawrence, Karl P, Douki, Thierry, Sarkany, Robert P E, Acker, Stephanie, Herzog, Bernd, Young, Antony R
Published in Scientific reports (24.08.2018)
Published in Scientific reports (24.08.2018)
Get full text
Journal Article
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms
Abeti, Rosella, Zeitlberger, Anna, Peelo, Colm, Fassihi, Hiva, Sarkany, Robert P E, Lehmann, Alan R, Giunti, Paola
Published in British journal of pharmacology (01.11.2019)
Published in British journal of pharmacology (01.11.2019)
Get full text
Journal Article
Dark cyclobutane pyrimidine dimers are formed in the epidermis of Fitzpatrick skin types I/II and VI in vivo after exposure to solar‐simulated radiation
Fajuyigbe, Damilola, Douki, Thierry, Dijk, Arjan, Sarkany, Robert P. E., Young, Antony R.
Published in Pigment cell and melanoma research (01.05.2021)
Published in Pigment cell and melanoma research (01.05.2021)
Get full text
Journal Article
A new visible light absorbing organic filter offers superior protection against pigmentation by wavelengths at the UVR-visible boundary region
Lawrence, Karl P., Sarkany, Robert P.E., Acker, Stephanie, Herzog, Bernd, Young, Antony R.
Published in Journal of photochemistry and photobiology. B, Biology (01.02.2022)
Published in Journal of photochemistry and photobiology. B, Biology (01.02.2022)
Get full text
Journal Article
Quality of life in the photodermatoses: the hidden toll of photosensitivity
Walburn, Jessica, Sarkany, Robert P.E.
Published in British journal of dermatology (1951) (01.05.2020)
Published in British journal of dermatology (1951) (01.05.2020)
Get full text
Journal Article
Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria
Sarkany, Robert P.E., Ibbotson, Sally H., Whatley, Sharon D., Lawrence, Clifford M., Gover, Pamela, Mufti, Ghulam J., Murphy, Gillian M., Masters, Gillian S., Badminton, Michael N., Elder, George H.
Published in Journal of investigative dermatology (01.05.2011)
Published in Journal of investigative dermatology (01.05.2011)
Get full text
Journal Article
Melanin distribution in human epidermis affords localized protection against DNA photodamage and concurs with skin cancer incidence difference in extreme phototypes
Fajuyigbe, Damilola, Lwin, Su M, Diffey, Brian L, Baker, Richard, Tobin, Desmond J, Sarkany, Robert P E, Young, Antony R
Published in The FASEB journal (01.07.2018)
Published in The FASEB journal (01.07.2018)
Get more information
Journal Article
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression
Garcia-Moreno, Hector, Langbehn, Douglas R, Abiona, Adesoji, Garrood, Isabel, Fleszar, Zofia, Manes, Marta Antonia, Morley, Ana M Susana, Craythorne, Emma, Mohammed, Shehla, Henshaw, Tanya, Turner, Sally, Naik, Harsha, Bodi, Istvan, Sarkany, Robert P E, Fassihi, Hiva, Lehmann, Alan R, Giunti, Paola
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
Get full text
Journal Article
Tricyclic antidepressant‐induced photosensitivity; A case report and systematic review
Boontaveeyuwat, Einapak, Steyn, Mia, Rickaby, William, Mcfadden, John P, Sarkany, Robert P. E., Fityan, Adam
Published in Photodermatology, photoimmunology & photomedicine (01.03.2022)
Published in Photodermatology, photoimmunology & photomedicine (01.03.2022)
Get full text
Journal Article
Diffuse Reflectance Spectroscopy as a Reliable Means of Comparing Ultraviolet Radiation‐induced Erythema in Extreme Skin Colors
Fajuyigbe, Damilola, Coleman, Andrew, Sarkany, Robert P. E., Young, Antony R., Schmalwieser, Alois W.
Published in Photochemistry and photobiology (01.09.2018)
Published in Photochemistry and photobiology (01.09.2018)
Get full text
Journal Article
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan
Sethi, Mieran, Haque, Shaheen, Fawcett, Heather, Wing, Jonathan F., Chandler, Natalie, Mohammed, Shehla, Frayling, Ian M., Norris, Paul G., McGibbon, David, Young, Antony R., Sarkany, Robert P.E., Lehmann, Alan R., Fassihi, Hiva
Published in Journal of investigative dermatology (01.04.2016)
Published in Journal of investigative dermatology (01.04.2016)
Get full text
Journal Article
A ‘spot’ diagnosis
Sebaratnam, Deshan F, Sarkany, Robert P E, Fassihi, Hiva
Published in Archives of disease in childhood. Education and practice edition (01.08.2017)
Published in Archives of disease in childhood. Education and practice edition (01.08.2017)
Get full text
Journal Article
Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome
Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Published in Annals of clinical and translational neurology (01.01.2018)
Published in Annals of clinical and translational neurology (01.01.2018)
Get full text
Journal Article
The Case | Bullous eruptions in end-stage renal failure
Harte, Jeffrey, Chapagain, Ananda, Sarkany, Robert P E, Chaudhri, Saurabh
Published in Kidney international (01.05.2020)
Published in Kidney international (01.05.2020)
Get full text
Journal Article
Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic Protoporphyria
Sarkany, Robert PE, Whitcombe, David M, Cox, Timothy M
Published in Journal of investigative dermatology (01.04.1994)
Published in Journal of investigative dermatology (01.04.1994)
Get full text
Journal Article
Conference Proceeding
Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria
Sarkany, Robert P E, Ibbotson, Sally H, Whatley, Sharon D, Lawrence, Clifford M, Gover, Pamela, Mufti, Ghulam J, Murphy, Gillian M, Masters, Gillian S, Badminton, Michael N, Elder, George H
Published in The Journal of investigative dermatology (01.05.2011)
Published in The Journal of investigative dermatology (01.05.2011)
Get full text
Report