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ArticlesPeer ReviewedFull Text
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
Author / Creator:Enjalbert, Florence ; Dewan, Priya ; Caley, Matthew P. ; Jones, Eleri M. ; Morse, Mary A. ; Kelsell, David P. ; Enright, Anton J. ; O’Toole, Edel A.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2020-09, Vol.130 (9), p.4798-4810
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ArticlesPeer ReviewedFull Text
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Author / Creator:Grall, Anaïs ; Guaguère, Eric ; Planchais, Sandrine ; Grond, Susanne ; Bourrat, Emmanuelle ; Hausser, Ingrid ; Hitte, Christophe ; Le Gallo, Matthieu ; Derbois, Céline ; Kim, Gwang-Jin ; Lagoutte, Laëtitia ; Degorce-Rubiales, Frédérique ; Radner, Franz P W ; Thomas, Anne ; Küry, Sébastien ; Bensignor, Emmanuel ; Fontaine, Jacques ; Pin, Didier ; Zimmermann, Robert ; Zechner, Rudolf ; Lathrop, Mark ; Galibert, Francis ; André, Catherine ; Fischer, Judith
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-02, Vol.44 (2), p.140-147
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Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature
Author / Creator:Baldo, Francesco ; Brena, Michela ; Carbogno, Simone ; Minoia, Francesca ; Lanni, Stefano ; Guez, Sophie ; Petaccia, Antonella ; Agostoni, Carlo ; Cimaz, Rolando ; Filocamo, Giovanni
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-06, Vol.19 (1), p.80-80, Article 80
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ArticlesPeer ReviewedFull Text
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model
Author / Creator:Youssef, Gehad ; Ono, Masahiro ; Brown, Stuart J. ; Kinsler, Veronica A. ; Sebire, Neil J. ; Harper, John I. ; O'Shaughnessy, Ryan F.L.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2014-03, Vol.134 (3), p.858-861
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ArticlesPeer ReviewedFull Text
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Bar...
Author / Creator:Wang, Tao ; Xu, Chenchen ; Zhou, Xiping ; Li, Chunjia ; Zhang, Hongbing ; Lian, Bill ; Lee, Jonathan ; Shen, Jun ; Liu, Yuehua ; Lian, Christine
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2015-09, Vol.16 (9), p.21791-21801
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ArticlesPeer ReviewedFull Text
Perinatal management of harlequin ichthyosis: a case report and literature review
Author / Creator:Harvey, H B ; Shaw, M G ; Morrell, D S
Publisher:New York: Nature Publishing Group US
Journal title:Journal of perinatology, 2010-01, Vol.30 (1), p.66-72
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ArticlesPeer ReviewedFull Text
Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
Author / Creator:Loo, Benny Kai Guo ; Batilando, Melissa Jeanne ; Tan, Ene Choo ; Koh, Mark Jean Aan
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2018-01, Vol.2018, p.bcr-2017-222025
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ArticlesPeer ReviewedFull Text
Compound Heterozygous Mutations Including a De Novo Missense Mutation in ABCA12 Led to a Case of Harlequin Ichthyosis with Moderate Clinical Severity
Author / Creator:Akiyama, Masashi ; Sakai, Kaori ; Sugiyama-Nakagiri, Yoriko ; Yamanaka, Yasuko ; McMillan, James R. ; Sawamura, Daisuke ; Niizeki, Hironori ; Miyagawa, Sachiko ; Shimizu, Hiroshi
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1518-1523
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ArticlesPeer ReviewedFull Text
Nutritional Rickets in Ichthyosis and Response to Calcipotriene
Author / Creator:Thacher, Tom D ; Fischer, Philip R ; Pettifor, John M ; Darmstadt, Gary L
Publisher:United States: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2004-07, Vol.114 (1), p.e119-e123
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Topical N-acetylcysteine for lamellar ichthyosis
Author / Creator:Redondo, Pedro ; Bauzá, Ana
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1999-11, Vol.354 (9193), p.1880-1880
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ArticlesPeer ReviewedFull Text
Microbial keratitis in a case of lamellar ichthyosis
Author / Creator:Chaurasia, Sunita ; Das, Sujata ; Ramamurthy, Balasubramanya
Publisher:Dordrecht: Springer Netherlands
Journal title:International ophthalmology, 2008-10, Vol.28 (5), p.367-368
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ArticlesPeer ReviewedFull Text
Neonatal Salicylate Poisoning During the Treatment of a Collodion Baby
Author / Creator:Yamamura, Sachiyo ; Kinoshita, Yo ; Kitamura, Naoyuki ; Kawai, Shuzo ; Kobayashi, Yohnosuke
Publisher:708 Glen Cove Avenue, Glen Head, NY 11545: SAGE Publications
Journal title:Clinical pediatrics, 2002-07, Vol.41 (6), p.451-452
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3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

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Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

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Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model

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Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Bar...

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Perinatal management of harlequin ichthyosis: a case report and literature review

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Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis

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Compound Heterozygous Mutations Including a De Novo Missense Mutation in ABCA12 Led to a Case of Harlequin Ichthyosis with Moderate Clinical Severity

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Nutritional Rickets in Ichthyosis and Response to Calcipotriene

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Topical N-acetylcysteine for lamellar ichthyosis

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Microbial keratitis in a case of lamellar ichthyosis

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Neonatal Salicylate Poisoning During the Treatment of a Collodion Baby

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