Below are the most recent publications written about "Ichthyosis" by people in Profiles.
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Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. J Am Acad Dermatol. 2019 Mar; 80(3):617-625.
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Monies D, Anabrees J, Ibrahim N, Elbardisy H, Abouelhoda M, Meyer BF, Alkuraya FS. Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. Clin Genet. 2018 06; 93(6):1252-1253.
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Marukian NV, Deng Y, Gan G, Ren I, Thermidor W, Craiglow BG, Milstone LM, Choate KA. Establishing and Validating an Ichthyosis Severity Index. J Invest Dermatol. 2017 09; 137(9):1834-1841.
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El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. 2016 05; 39(3):373-381.
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Goodwin G, Hawley PP, Miller DT. A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes. J Clin Endocrinol Metab. 2016 Mar; 101(3):837-40.
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Alloo A, Sheu J, Butrynski JE, DeAngelo DJ, George S, Murphy GF, LeBoeuf NR. Ponatinib-induced pityriasiform, folliculocentric and ichthyosiform cutaneous toxicities. Br J Dermatol. 2015 Aug; 173(2):574-7.
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Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest. 2015 Apr; 125(4):1703-7.
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Wiersma GL, Saavedra AP, Yang FC, Nandi TR, Levine D, Murphy GF. Pseudoherpetic grover disease: report of 2 cases and review of the literature. Am J Dermatopathol. 2014 Sep; 36(9):746-50.
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Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014 Jun 05; 94(6):898-904.
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Zhu HJ, Clark LN, Deloney LA, McDonald JE. Grover disease (transient acantholytic dermatosis) in acute myeloid leukemia on FDG PET/CT. Clin Nucl Med. 2014 Feb; 39(2):e173-5.