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Items: 4

Select item 93802811.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study

Damiano ABENI, Roberta ROTUNNO, Andrea DIOCIAIUTI, Simona GIANCRISTOFORO, Domenico BONAMONTE, Angela FILONI, Carmelo SCHEPIS, Maddalena SIRAGUSA, Iria NERI, Annalucia VIRDI, Daniele CASTIGLIA, Giovanna ZAMBRUNO, Christine BODEMER, May EL HACHEM

Acta Derm Venereol. 2021; 101(6): 618. Published online 2021 Jun 22. doi: 10.2340/00015555-3822

PMCID:: PMC9380281

Abstract Article PDF–582K

Select item 80334192.

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis

Amy S. Paller, Yael Renert-Yuval, Margeaux Oliva, Hitokazu Esaki, Maria Suprun, Thy Nhat Huynh, Benjamin Ungar, Rivka Friedland, Xiangyu Peng, Xiuzhong Zheng, Yeriel D. Estrada, James G. Krueger, Keith A. Choate, Mayte Suárez-Fariñas, Emma Guttman-Yassky

J Allergy Clin Immunol. Author manuscript; available in PMC 2021 Apr 9.

Published in final edited form as: J Allergy Clin Immunol. 2017 Jan; 139(1): 152–165. Published online 2016 Aug 20. doi: 10.1016/j.jaci.2016.07.019

PMCID:: PMC8033419

Abstract Article PDF–2.3M

Select item 56439713.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Nessa Aghazadeh, Rebecca Adams, Alireza Ghanadan, Sirous Zeinali, Paolo Fortina, Jouni Uitto

Eur J Hum Genet. 2017 Nov; 25(11): 1282–1285. Published online 2017 Sep 6. doi: 10.1038/ejhg.2017.137