Below are the most recent publications written about "Hair Diseases" by people in Profiles.
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Doolan BJ, Rayinda T, Chiu FP, McGrath JA, Onoufriadis A. A review of genotrichoses and hair pathology associated with inherited skin diseases. Br J Dermatol. 2023 07 17; 189(2):154-160.
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Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 01 23; 188(1):75-83.
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Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Hum Mol Genet. 2022 06 22; 31(12):1970-1978.
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McGrath JA, Ohyama M, Simpson MA. PADI3, hair disorders and genomic investigation. Br J Dermatol. 2019 12; 181(6):1115-1116.
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Lloyd M, Eagle RC, Wasserman BN. Pilomatrixoma Masquerading as Giant Chalazion. Ophthalmology. 2018 12; 125(12):1936.
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Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. J Invest Dermatol. 2017 05; 137(5):1176-1179.
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Wilson ME, Samara WA, Eagle RC, Shields JA, Shields CL. Pilomatrixoma of the Eyebrow in an 11-Year-Old Child. J Pediatr Ophthalmol Strabismus. 2016 May 01; 53(3):192.
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McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 07; 91(6):1115-21.
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McLean WH, Moore CB. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15; 20(R2):R189-97.
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Fontcuberta IC, Salom?o DR, Quiram PA, Pulido JS. Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dub? syndrome. Ophthalmic Genet. 2011 Sep; 32(3):143-6.