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Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Published in:
2024
By:
- Zhang, Jing;
- Yao, Yue;
- Tan, Ya;
- Hu, Hua-Ying;
- Zeng, Lin-Xi;
- Zhang, Guo-Qiang
Publication type:
Case Study
Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis.
Published in:
Animal Genetics, 2024, v. 55, n. 3, p. 490, doi. 10.1111/age.13423
By:
- Kiener, Sarah;
- Åhman, Susanne;
- Cikota, Robert;
- Jagannathan, Vidhya;
- Blatter, Sohvi;
- Cvitas, Iva;
- Soto, Sara;
- Leeb, Tosso
Publication type:
Article
O18 Precision genome editing for targeted correction of pathogenic D50N mutation in keratitis–ichthyosis–deafness syndrome using CRISPR/Cas9 and homology-directed repair.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 6, p. e76, doi. 10.1093/bjd/ljae105.018
By:
- Gobalakrishnan, Krishshan;
- Jayarajan, Vignesh;
- Kinsler, Veronica;
- Di, Wei-Li
Publication type:
Article
O22 Unravelling the pathophysiology of KLICK syndrome to identify therapeutically targetable pathways.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 6, p. e78, doi. 10.1093/bjd/ljae105.022
By:
- Cherry, Hannah;
- Rastrick, Joe;
- Jacków, Joanna;
- Parsons, Maddy;
- McGrath, John
Publication type:
Article
P10 Janus kinase inhibitors to restore skin barrier function in a mouse model of Harlequin ichthyosis.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 6, p. e83, doi. 10.1093/bjd/ljae105.032
By:
- Giusto, Elena;
- Jones, Eleri;
- Enjalbert, Florence;
- Ahmed, Abubkr;
- Caley, Matthew;
- Rognoni, Emanuel;
- O'Toole, Edel
Publication type:
Article
Skin Reactions in Children with Type 1 Diabetes Associated with the Use of New Diabetes Technologies—An Observational Study from a Regional Polish Pediatric Diabetes Center.
Published in:
Children, 2024, v. 11, n. 6, p. 740, doi. 10.3390/children11060740
By:
- Ledwoń, Ewa;
- Zemła-Szten, Paula;
- von dem Berge, Thekla;
- Nalewajko, Krzysztof;
- Passanisi, Stefano;
- Piona, Claudia;
- dos Santos, Tiago Jeronimo;
- Svensson, Jannet;
- Korsgaard Berg, Anna;
- Chobot, Agata
Publication type:
Article
Transcriptomic response of peripheral blood mononuclear cells to secukinumab in epidermolytic ichthyosis.
Published in:
Clinical & Experimental Dermatology, 2024, v. 49, n. 6, p. 626, doi. 10.1093/ced/llae040
By:
- Hou, Ping-Chen;
- Hong, Yi-Kai;
- Lin, Yu-Chen;
- Yang, Min-Chia;
- Hsu, Chung-Ting;
- McGrath, John A;
- Hsu, Chao-Kai
Publication type:
Article
Multiple hyperkeratotic papules and crusted lesions on the scalp, face, and trunk.
Published in:
International Journal of Dermatology, 2024, v. 63, n. 6, p. 757, doi. 10.1111/ijd.16993
By:
- Karri, Sudhirbabu;
- Bathina, Aruna;
- Kollipara, Haritha;
- Gandikota, Raghuramarao
Publication type:
Article
CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 6, p. e493, doi. 10.1111/jdv.19680
By:
- Ishida, Yoshihiro;
- Saeki, Kazuko;
- Ueda, Marina;
- Lee‐Okada, Hyeon‐Cheol;
- Doi, Hiromi;
- Kambe, Naotomo;
- Nakajima, Saeko;
- Yokomizo, Takehiko;
- Kabashima, Kenji
Publication type:
Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Published in:
Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
By:
- Fioretti, Tiziana;
- Martora, Fabrizio;
- De Maggio, Ilaria;
- Ambrosio, Adelaide;
- Piscopo, Carmelo;
- Vallone, Sabrina;
- Amato, Felice;
- Passaro, Diego;
- Acquaviva, Fabio;
- Gaudiello, Francesca;
- Di Girolamo, Daniela;
- Maiolo, Valeria;
- Zarrilli, Federica;
- Esposito, Speranza;
- Vitiello, Giuseppina;
- Auricchio, Luigi;
- Sammarco, Elena;
- Brasi, Daniele De;
- Petillo, Roberta;
- Gambale, Antonella
Publication type:
Article
Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 5, p. 773, doi. 10.1093/bjd/ljae082
By:
- Hachem, May El;
- Marco, Rita De;
- Francisco, José María Soria de;
- Audouze, Anne;
- Aldwin-Easton, Mandy;
- Skayem, Charbel;
- Taieb, Charles;
- Aroman, Markéta Saint;
- Ghienne, Hélène;
- Baissac, Catherine;
- Mazereeuw, Juliette;
- Bodemer, Christine
Publication type:
Article
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Published in:
Dermatology (10188665), 2024, v. 240, n. 3, p. 397, doi. 10.1159/000536366
By:
- Diociaiuti, Andrea;
- Corbeddu, Marialuisa;
- Rossi, Sabrina;
- Pisaneschi, Elisa;
- Cesario, Claudia;
- Condorelli, Angelo Giuseppe;
- Samela, Tonia;
- Giancristoforo, Simona;
- Angioni, Adriano;
- Zambruno, Giovanna;
- Novelli, Antonio;
- Alaggio, Rita;
- Abeni, Damiano;
- El Hachem, May
Publication type:
Article
Screening for comorbidities in congenital ichthyosis: A retrospective case--control study.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 5, p. e417, doi. 10.1111/jdv.19642
By:
- Lery, M.;
- Shourick, J.;
- Tchitchimata, C.;
- Dreyfus, I.;
- Mazereeuw-Hautier, J.
Publication type:
Article
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 3, p. 512, doi. 10.1111/pde.15506
By:
- Cordisco, Adalgisa;
- Lozza, Virginia;
- Di Marco, Chiara;
- Cecconi, Antonella;
- Pisaneschi, Elisa;
- Berti, Samantha Federica;
- Adamo, Laura;
- Lori, Ilaria;
- Belli, Gilda;
- Gambi, Beatrice
Publication type:
Article
Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 3, p. 546, doi. 10.1111/pde.15517
By:
- Swink, Shane M.;
- Hurley, Margaret;
- Haynes, Dylan;
- Larijani, Mary
Publication type:
Article
Prenatal diagnosis of a fetal harlequin ichthyosis.
Published in:
2024
By:
- Spingler, Tobias;
- Wiechers, Cornelia;
- Hoopmann, Markus;
- Kagan, Karl Oliver
Publication type:
Case Study
Psychosocial impact of severe autosomal recessive congenital ichthyosis.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 4, p. 565, doi. 10.1093/bjd/ljad456
By:
- Raj, Christina;
- Singh, Shrishti;
- Gupta, Aayush
Publication type:
Article
Netherton syndrome—A therapeutic challenge in childhood.
Published in:
2024
By:
- Kostova, Polina;
- Petrova, Guergana;
- Shahid, Martin;
- Papochieva, Vera;
- Miteva, Dimitrinka;
- Yordanova, Ivelina;
- Drenovska, Kossara;
- Bradinova, Irena;
- Janniger, Camila K.;
- Schwartz, Robert A.;
- Vassileva, Snejina
Publication type:
Case Study
X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
Published in:
European Journal of Pediatric Dermatology, 2024, v. 34, n. 2, p. 93
By:
- AlSoufi, L.;
- Fawal, H.;
- Al-Shehabi, Z.
Publication type:
Article
Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Published in:
2024
By:
- Noda, Tatsuhiro;
- Takeichi, Takuya;
- Tanahashi, Kana;
- Ogawa, Yasushi;
- Takeuchi, So;
- Yoshikawa, Takenori;
- Toriyama, Erika;
- Ashida, Miwa;
- Imakado, Sumihisa;
- Tsuchihashi, Hitoshi;
- Okamoto, Takashi;
- Okuno, Yusuke;
- Ogi, Tomoo;
- Sugiura, Kazumitsu;
- Kubo, Akiharu;
- Muro, Yoshinao;
- Suga, Yasushi;
- Ishida‐Yamamoto, Akemi;
- Akiyama, Masashi
Publication type:
Case Study
Cydnidae Pigmentation.
Published in:
Indian Pediatrics, 2024, v. 61, n. 4, p. 396, doi. 10.1007/s13312-024-3174-4
By:
- Devansi, Sarawgi
Publication type:
Article
Bathing Suit Ichthyosis.
Published in:
Indian Pediatrics, 2024, v. 61, n. 4, p. 397, doi. 10.1007/s13312-024-3175-3
By:
- Zaouak, Anissa;
- Charfeddine, Cherine
Publication type:
Article
HSD10 disease in a female patient with juvenile onset parkinsonism.
Published in:
Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 431, doi. 10.1002/mdc3.13917
By:
- Rosário, Madalena;
- Carvalho, Vanessa;
- Moldovan, Oana;
- Crawford, Joana;
- Chendo, Inês;
- Reimão, Sofia;
- Rosa, Mário Miguel;
- Correia Guedes, Leonor
Publication type:
Article
Rare clinical case of harlequin ichthyosis: opportunities and difficulties of prenatal diagnosis.
Published in:
Perinatal Journal, 2024, v. 32, n. 1, p. 62, doi. 10.59215/prn.24.0321010
By:
- Normuradova, Nodira
Publication type:
Article
Biologics for inherited disorders of keratinisation: A systematic review.
Published in:
Australasian Journal of Dermatology, 2024, v. 65, n. 2, p. 185, doi. 10.1111/ajd.14197
By:
- Chen, Michelle K. Y.;
- Flanagan, Alice L.;
- Sebaratnam, Deshan F.;
- Gu, Yaron
Publication type:
Article
Novel variants in ABCA12 cause erythrokeratodermia variabilis.
Published in:
British Journal of Dermatology, 2024, v. 190, n. 3, p. 454, doi. 10.1093/bjd/ljad494
By:
- Liu, Yihe;
- Mo, Ran;
- Chen, Zhiming;
- Yang, Yong
Publication type:
Article
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Published in:
2024
By:
- Hotz, Alrun;
- Fölster-Holst, Regina;
- Oji, Vinzenz;
- Bourrat, Emmanuelle;
- Frank, Jorge;
- Marrakchi, Slaheddine;
- Ennouri, Mariem;
- Wankner, Lotta;
- Komlosi, Katalin;
- Alter, Svenja;
- Fischer, Judith
Publication type:
Case Study
Ponatinib‐induced desquamation—Unifying eponymous terminology for a rare adverse event.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e247, doi. 10.1111/jdv.19553
By:
- Danish, Mohammad;
- Patel, Varniraj;
- Arava, Sudheer;
- Ahuja, Rhea
Publication type:
Article
In‐person validation of the Ichthyosis Scoring System.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 2, p. 247, doi. 10.1111/pde.15508
By:
- Echeandia‐Francis, Caroline;
- Sun, Qisi;
- Asch, Sarah;
- Bayart, Cheryl;
- Benjamin, Latanya;
- Cipriano, Sarah D.;
- Craiglow, Brittany;
- Dyer, Jonathan;
- Levy, Moise L.;
- Lilly, Evelyn;
- Newell, Brandon;
- Liang, Jingchen;
- Gan, Geliang;
- Deng, Yanhong;
- Paller, Amy S.;
- Choate, Keith A.
Publication type:
Article
Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high‐dose vitamin D therapy.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 2, p. 348, doi. 10.1111/pde.15484
By:
- Azeez, Femina;
- Sunil, Minu;
- Sahadevan, Geethanjali;
- Kidangazhiathmana, Ajithkumar;
- Mathews, Irene
Publication type:
Article
Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.
Published in:
2024
By:
- Aubry, Rachel L;
- Innes, A. Micheil;
- Haber, Richard M
Publication type:
Case Study
Congenital insensitivity to pain.
Published in:
2024
By:
- Pragya
Publication type:
Case Study
Combined liver‐kidney transplantation in pediatric patients.
Published in:
Pediatric Transplantation, 2024, v. 28, n. 1, p. 1, doi. 10.1111/petr.14666
By:
- Yi, Nam‐Joon;
- Kim, Jiyoung;
- Hong, Su Young;
- Kang, Hee Gyung
Publication type:
Article
Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review.
Published in:
2024
By:
- Bahashwan, Emad;
- Alfaifi, Jaber;
- Mohamed Moursi, Sahar Elmaghawri;
- Soliman, Youssef Elbayoumi
Publication type:
Case Study
ON–OFF electroretinogram analysis in patients with negative electroretinograms.
Published in:
Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16146
By:
- Pojda‐Wilczek, Dorota
Publication type:
Article
Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.
Published in:
2024
By:
- Kovacheva, Katya;
- Kamburova, Zornitza;
- Vasilev, Preslav;
- Yordanova, Ivelina
Publication type:
Case Study
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Published in:
Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432
By:
- Eskin‐Schwartz, Marina;
- Dolgin, Vadim;
- Didkovsky, Elena;
- Aminov, Ilana;
- Pikovsky, Anna;
- Hadar, Noam;
- Kristal, Eyal;
- Ling, Galina;
- Cohen, Idan;
- Zilberman, Uri;
- Birk, Ohad S.
Publication type:
Article
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.
Published in:
Dermatology (10188665), 2024, v. 240, n. 1, p. 170, doi. 10.1159/000533934
By:
- Clabbers, Julia;
- van Oosten, Noor van;
- Bolling, Marieke;
- Vreeburg, Maaike;
- van Geel, Michel;
- Steijlen, Peter;
- Gostynski, Antoni
Publication type:
Article
Lethal prematurity ichthyosis syndrome in a newborn.
Published in:
European Journal of Pediatric Dermatology, 2024, v. 34, n. 1, p. 25
By:
- Y., Akkus;
- A., Yildiz;
- H., Karadag;
- B., Ermis
Publication type:
Article
Human filaggrin monomer does not seem to be a proteasome target.
Published in:
Experimental Dermatology, 2024, v. 33, n. 1, p. 1, doi. 10.1111/exd.14772
By:
- Briot, Julie;
- Arbey, Eric;
- Goudounèche, Dominique;
- Bernard, Dominique;
- Simon, Michel;
- Méchin, Marie‐Claire
Publication type:
Article
Acquired Ichthyosis in an Active Case of Tuberculosis Receiving ATT.
Published in:
Indian Dermatology Online Journal, 2024, v. 15, n. 1, p. 159, doi. 10.4103/idoj.idoj_135_23
By:
- Sehgal, Sumit;
- Agrawal, Srishti;
- Meghwal, Lavina;
- Jain, Manish
Publication type:
Article
Collodion Baby: Answers Beneath the Parchment.
Published in:
Indian Journal of Paediatric Dermatology, 2024, v. 25, n. 1, p. 50, doi. 10.4103/ijpd.ijpd_89_23
By:
- Biswas, Shreshthangsha Sayan;
- Mathews, Irene
Publication type:
Article
Genotype–Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 1, p. 49, doi. 10.3390/jcm13010049
By:
- Halimeh, Susan;
- Koch, Lydia;
- Kenet, Gili;
- Kuta, Piotr;
- Rahmfeld, Tess;
- Stoll, Monika;
- Nowak-Göttl, Ulrike
Publication type:
Article
Keratitis-ichthyosis-deafness (KID) syndrome in an adult in sub-Saharan Africa.
Published in:
Our Dermatology Online / Nasza Dermatologia Online, 2024, v. 15, n. 1, p. 58, doi. 10.7241/ourd.20241.13
By:
- Pacôme Gbandama, Koffi Kouamé;
- Hyacinthe Nanko, James;
- Sarah Kourouma, Hamdan;
- Allou, Ange-Sylvain;
- Gbonangbo Amani, Kaunan Leslie Wilfried;
- Nguena Feungue, Ulrich;
- Isidore Kouassi, Yao;
- Okobe, Yvette;
- Célestin Ahogo, Kouadio;
- Kaloga, Mamadou;
- Sangaré, Abdoulaye
Publication type:
Article
A preterm infant with acral congenital erosions.
Published in:
Pediatric Dermatology, 2024, v. 41, n. 1, p. 121, doi. 10.1111/pde.15375
By:
- Marín‐Piñero, Dídac;
- Mascaró, José M.;
- Perandones‐González, Hector;
- Vicente‐Villa, María Asunción
Publication type:
Article
Clinico-etiological and histopathological correlation in erythroderma: In a tertiary care hospital of Eastern Odisha.
Published in:
Asian Journal of Medical Sciences, 2023, v. 14, n. 12, p. 92, doi. 10.3126/ajms.v14i12.56381
By:
- Sahu, Dharmendra Kumar;
- Singh, Purna Chandra;
- Mohanty, Jayashree;
- Mishra, Dharma Niranjan
Publication type:
Article
An infant with lamellar ichthyosis presenting with meningitis.
Published in:
2023
By:
- Mesfin, Telila;
- Tsegaye, Mesfin;
- Seyoum, Kenbon;
- Geta, Girma;
- Ejigu, Neway;
- Elala, Tesfaye;
- Gomora, Degefa;
- Sahiledengle, Biniyam;
- Tadesse, Eshetu Mesfin;
- Kusa, Getu;
- Tilahun, Teketel
Publication type:
Case Study
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.
Published in:
Clinical, Cosmetic & Investigational Dermatology, 2023, v. 16, p. 3527, doi. 10.2147/CCID.S439288
By:
- Rubaian, Nouf F Bin;
- Al-Awam, Bashayer S;
- Alluhaybi, Abdulelah Hassan;
- Alsaati, Ahmed Abdulaziz
Publication type:
Article
Cold Atmospheric Plasma: A Promising and Safe Therapeutic Strategy for Atopic Dermatitis.
Published in:
International Archives of Allergy & Immunology, 2023, v. 184, n. 12, p. 1184, doi. 10.1159/000531967
By:
- Bai, Fan;
- Ran, Yutong;
- Zhai, Siyue;
- Xia, Yumin
Publication type:
Article
Long‐term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.
Published in:
International Journal of Dermatology, 2023, v. 62, n. 12, p. e639, doi. 10.1111/ijd.16812
By:
- Niu, Xuping;
- Li, Xinhua;
- Han, Qixin;
- Hou, Ruixia;
- Zhang, Kaiming
Publication type:
Article

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