1. A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis. (1st May 2021) Authors: Onoufriadis, A.; Boulouadnine, B.; Dachy, G.; Higashino, T.; Huang, H.Y.; Hsu, C.K.; Simpson, M.A.; Bork, K.; Demoulin, J.B.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis. (5th February 2021) Authors: Onoufriadis, A.; Boulouadnine, B.; Dachy, G.; Higashino, T.; Huang, H.Y.; Hsu, C.K.; Simpson, M.A.; Bork, K.; Demoulin, J.B.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A study of gene mutations and how they relate to the different types of ichthyosis. (1st March 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A study of gene mutations and how they relate to the different types of ichthyosis. (28th February 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations*. (1st May 2021) Authors: Onoufriadis, A.; Cabezas, A.; Ng, J.C.F.; Canales, J.; Costas, M.J.; Ribeiro, J.M.; Rodrigues, J.R.; McAleer, M.A.; Castelo‐Soccio, L.; Simpson, M.A.; Fraternali, F.; Irvine, A.D.; Cameselle, J.C.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations. (1st May 2021) Authors: Onoufriadis, A.; Cabezas, A.; Ng, J.C.F.; Canales, J.; Costas, M.J.; Ribeiro, J.M.; Rodrigues, J.R.; McAleer, M.A.; Castelo‐Soccio, L.; Simpson, M.A.; Fraternali, F.; Irvine, A.D.; Cameselle, J.C.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations. (2nd November 2020) Authors: Onoufriadis, A.; Cabezas, A.; Ng, J.C.F.; Canales, J.; Costas, M.J.; Ribeiro, J.M.; Rodrigues, J.R.; McAleer, M.A.; Castelo‐Soccio, L.; Simpson, M.A.; Fraternali, F.; Irvine, A.D.; Cameselle, J.C.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 184:Number 5(2021) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. (19th July 2017) Authors: Takeichi, T.; Nomura, T.; Takama, H.; Kono, M.; Sugiura, K.; Watanabe, D.; Shimizu, H.; Simpson, M.A.; McGrath, J.A.; Akiyama, M. Journal: British journal of dermatology Issue: Volume 177:Number 3(2017) Page Start: e62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. (1st September 2017) Authors: Takeichi, T.; Nomura, T.; Takama, H.; Kono, M.; Sugiura, K.; Watanabe, D.; Shimizu, H.; Simpson, M.A.; McGrath, J.A.; Akiyama, M. Journal: British journal of dermatology Issue: Volume 177:Number 3(2017) Page Start: e62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. (1st February 2015) Authors: Takeichi, T.; Nanda, A.; Liu, L.; Aristodemou, S.; McMillan, J.R.; Sugiura, K.; Akiyama, M.; Al‐Ajmi, H.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 172:Number 2(2015:Feb.) Page Start: 527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗