Works matching DE "ICHTHYOSIS"

Results: 1703

A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1232, doi. 10.1093/ced/llae552

By:

Klapproth, Henning;
Rauterberg, Jonas;
Koll, Philipp;
Soellner, Lukas;
Neumayer, Daniela;
Fischer, Judith;
Tantcheva-Poór, Iliana

Publication type:

Article

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.

Published in:

2025

By:

Gowda, Vykuntaraju K;
Srinivasan, Varunvenkat M;
Krishnanada, Vikas;
Sathyakumar, Rima;
Mahadevan, Anita

Publication type:

Letter

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1574255

By:

Cheng, Wenjie;
Pan, Chaolan;
Sun, Zhe;
Sun, Peiyi;
Li, Jiawen;
Yao, Zhirong;
Wang, Xiaoxiao;
Zhang, Jia

Publication type:

Article

Bullying in Children With Congenital Ichthyosis.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 499, doi. 10.1111/pde.15920

By:

Rustad, Andrea M.;
Soltani, Hannah;
Yang, Lynna J.;
McKenney, Jenna E.;
Ren, Ziyou;
Rangel, Stephanie M.;
Paller, Amy S.

Publication type:

Article

Prevalence of Malnutrition in Children With Congenital Ichthyoses in a Tertiary Care Centre in India.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 568, doi. 10.1111/pde.15863

By:

Mendiratta, Vibhu;
Verma, Damini;
Himadri;
Meena, Amit kumar

Publication type:

Article

Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 7, p. 1735, doi. 10.1007/s10815-023-02812-0

By:

Yang, Jingya;
Shi, Hao;
Niu, Wenbin;
Bao, Xiao;
Liu, Han;
Chen, Chuanju;
Jin, Haixia;
Song, Wenyan;
Sun, Yingpu

Publication type:

Article

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.

Published in:

2011

By:

Bingol, Banu;
Tasdemir, Seval;
Gunenc, Ziya;
Abike, Faruk;
Esenkaya, Semra;
Tavukcuoglu, Safak;
Berkil, Hakan

Publication type:

Report

Cetrimide-induced oral mucositis: an unusual adverse drug reaction.

Published in:

2016

By:

Fortuna, Giulio;
Cerchione, Enrico;
Lorenzo, Marianna

Publication type:

Letter

Transglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis.

Published in:

Medical Principles & Practice, 2013, v. 22, n. 5, p. 438, doi. 10.1159/000349914

By:

Al-Naamani, Aisha;
Al-Waily, Ahmed;
Al-Kindi, Mohammed;
Al-Awadi, Maha;
Al-Yahyaee, Said Ali

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

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

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.

Published in:

2006

By:

Todt, I.;
Hennies, H. C.;
Küster, W.;
Smolle, J.;
Rademacher, G.;
Mutze, S.;
Basta, D.;
Eisenschenk, A.;
Ernst, A.;
Küster, W

Publication type:

journal article

Okülomotor Apraksi Tip 2’nin Oküler Elektrofizyolojik Özellikleri: Bir Olgu Sunumu.

Published in:

MN Opthalmology / MN Oftalmoloji, 2023, v. 30, n. 1, p. 73

By:

ŞENER, Hidayet;
GÜLMEZ SEVİM, Duygu;
GÜLTEKİN, Murat;
ŞİMŞİR, Gülşah

Publication type:

Article

Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma?

Published in:

Yonago Acta Medica, 2020, v. 63, n. 1, p. 92, doi. 10.33160/yam.2020.02.012

By:

Keiko Wakumoto;
Yuichi Yoshida;
Osamu Yamamoto

Publication type:

Article

A&I ANÄSTHESIOLOGIE & INTENSIVMEDIZIN.

Published in:: Anaesthesiologie & Intensivmedizin, 2025, v. 66, n. 5, p. S86
Publication type:: Article

Curth Macklin Ichthyosis in Blaschkoid Pattern: A Rare Case Presentation.

Published in:

2024

By:

GARG, Simran;
SHARMEEN, Ayesha;
AMIN, Syed Suhail;
HASSAN, Jowairiah

Publication type:

Case Study

Four Dermatological Diseases in a Patient: Is it an Association or Just a Coincidence?

Published in:

Turkiye Klinikleri Journal of Dermatology, 2020, v. 30, n. 3, p. 116, doi. 10.5336/dermato.2019-70175

By:

ERDOĞAN, Hilal KAYA;
AĞAOĞLU, Esra;
ACER, Ersoy;
SARAÇOĞLU, Zeynep Nurhan

Publication type:

Article

Sjögren-Larsson Sendromu: İki Olgu Sunumu.

Published in:

2014

By:

Kartal, Ayşe;
Aydın, Kürşad;
Koç, Nesibe

Publication type:

Case Study

Two primary cancers: Primary squamous cell carcinoma with extensive ichthyosis uteri and cervical endometrioid carcinoma: A case report.

Published in:

Molecular & Clinical Oncology, 2020, v. 13, n. 5, p. N.PAG, doi. 10.3892/mco.2020.2113

By:

Akizawa, Yoshika;
Yamamoto, Tomoko;
Kanno, Toshiyuki;
Horibe, Yu;
Odaira, Kensuke;
Abe, Yuki;
Nagashima, Yoji;
Tabata, Tsutomu

Publication type:

Article

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 8, p. 685, doi. 10.3390/metabo12080685

By:

Zeng, Fansi;
Qin, Wenzhen;
Huang, Feifei;
Chang, Pingan

Publication type:

Article

Ichthyosis and hereditary cornification disorders in dogs.

Published in:

Veterinary Dermatology, 2021, v. 32, n. 6, p. 567, doi. 10.1111/vde.13033

By:

Mauldin, Elizabeth A.;
Elias, Peter M.

Publication type:

Article

ECTODERMAL DYSPLASIAS IN CATTLE.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 3, p. 258, doi. 10.1111/j.1365-2133.1971.tb14216.x

By:

Selmanowitz, Victor J.

Publication type:

Article

Urea as a Topical Agent.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 2, p. 194

By:

Ashton, Heather;
Frenk, E.;
Stevenson, C. J.

Publication type:

Article

SKIN SURFACE BIOPSY: AN IMPROVED TECHNIQUE FOR THE EXAMINATION OF THE HORNY LAYER.

Published in:

British Journal of Dermatology, 1971, v. 84, n. 2, p. 117, doi. 10.1111/j.1365-2133.1971.tb06853.x

By:

Marks, R.;
Dawber, R. P. R.

Publication type:

Article

Skin Changes in Refsum's Syndrome.

Published in:

1970

By:

Donelan, D. O'C.

Publication type:

Case Study

MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.

Published in:

British Journal of Dermatology, 1969, v. 81, n. 11, p. 851

By:

Stevanović, D. V.

Publication type:

Article

Acquired Ichthyosis.

Published in:: British Journal of Dermatology, 1968, v. 80, n. 5, p. 346
Publication type:: Article

THE MITOTIC RATE AND DURATION IN LESIONS OF PSORIASIS AND ICHTHYOSIS.

Published in:

British Journal of Dermatology, 1968, v. 80, n. 4, p. 235, doi. 10.1111/j.1365-2133.1968.tb11964.x

By:

Fisher, L. B.;
Wells, G. C.

Publication type:

Article

ROYAL SOCIETY OF MEDICINE. SECTION OF DERMATOLOGY.

Published in:

British Journal of Dermatology, 1967, v. 79, n. 7, p. 419, doi. 10.1111/j.1365-2133.1967.tb11523.x

By:

MacKenna, R. M. B.

Publication type:

Article

CHOLESTEKOL SYNTHESIS IN ICHTHYOSIS VULGAEIS.

Published in:

British Journal of Dermatology, 1967, v. 79, n. 7, p. 378, doi. 10.1111/j.1365-2133.1967.tb11515.x

By:

Summerly, R.;
Yardley, H. J.

Publication type:

Article

DIFFUSE THINNING OF HAIR IN IODIDE-INDUCED HYPOTHYROIDISM.

Published in:

British Journal of Dermatology, 1967, v. 79, n. 2, p. 103, doi. 10.1111/j.1365-2133.1967.tb11464.x

By:

Chapman, R. S.;
Main, R. A.

Publication type:

Article

A Classified List of Publications.

Published in:: British Journal of Dermatology, 1966, v. 78, n. 7, p. 1, doi. 10.1111/j.1365-2133.1966.tb12231.x
Publication type:: Article

NEWS AND NOTES.

Published in:: British Journal of Dermatology, 1966, v. 78, n. 4, p. 247, doi. 10.1111/j.1365-2133.1966.tb12217.x
Publication type:: Article

TWO FAMILIES WITH COLLODION BABIES.

Published in:

British Journal of Dermatology, 1966, v. 78, n. 2, p. 81, doi. 10.1111/j.1365-2133.1966.tb12178.x

By:

Smeenk, G.

Publication type:

Article

ICHTHYOSIFOBM CONDITIONS OCCURRING IN LEPROSY.

Published in:

British Journal of Dermatology, 1965, v. 77, n. 3, p. 151, doi. 10.1111/j.1365-2133.1965.tb14617.x

By:

Schulz, E. J.

Publication type:

Article

PITYRIASIS EOTUNDA (PlTYRIASIS ClRCINATA) I. SARKANY and P. J. HARE.

Published in:

British Journal of Dermatology, 1964, v. 76, n. 5, p. 223, doi. 10.1111/j.1365-2133.1964.tb14514.x

By:

Sarkany, I.;
Hare, P. J.

Publication type:

Article

Familial Cicatricial Alopecia and Ichthyosis.

Published in:: British Journal of Dermatology, 1964, v. 76, n. 2, p. 94
Publication type:: Article

Acquired Ichthyosis -- Possibly Caused by Mepacrine.

Published in:

British Journal of Dermatology, 1962, v. 74, n. 7, p. 277

By:

Grant, G. A.

Publication type:

Article

A NEW OINTMENT BASE.

Published in:

British Journal of Dermatology, 1961, v. 73, n. 10, p. 376, doi. 10.1111/j.1365-2133.1961.tb14400.x

By:

Vickers, C. F. H.;
Sneddon, I. B.

Publication type:

Article

STUDIES ON SILICON IN TISSUES WITH SPECIAL REFERENCE TO SKIN.

Published in:

British Journal of Dermatology, 1959, v. 71, n. 7, p. 275

By:

J. H. T. D.

Publication type:

Article

NORTH BRITISH DERMATOLOGICAL SOCIETY.

Published in:

British Journal of Dermatology, 1958, v. 70, n. 4, p. 146, doi. 10.1111/j.1365-2133.1958.tb13307.x

By:

Fergusson, A. Girdwood

Publication type:

Article

GENODERMATOSES WITH VARYING RINGED ERYTHEMA.

Published in:

British Journal of Dermatology, 1957, v. 69, n. 7/8, p. 294

By:

F. F. H.

Publication type:

Article

ACQUIRED ICHTHYOSIS IN HODGKIN'S DISEASE.

Published in:

British Journal of Dermatology, 1956, v. 68, n. 2, p. 70

By:

B. A. T.

Publication type:

Article

STUDIES IN THE MODE OF ACTION OF VITAMIN A.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 10, p. 376

By:

J. H. T. D.

Publication type:

Article

A CASE OF ICHTHYOSIS CONGENITA WITH SHRINKAGE OF THE EYELIDS.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 7, p. 267

By:

M. S. S.

Publication type:

Article

HYPERKERATOTIC GENO-DERMATOSES OF BULLOUS TYPE.

Published in:

British Journal of Dermatology, 1954, v. 66, n. 7, p. 264

By:

F. F. H.

Publication type:

Article

BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA.

Published in:: 1954
Publication type:: Abstract

ROYAL SOCIETY OF MEDICINE.

Published in:

British Journal of Dermatology, 1952, v. 64, n. 1, p. 26

By:

Goldsmith, W. N.

Publication type:

Article

JOHN MACHIN, MATHEMATICIAN AND ASTRONOMER, AND THE FIRST DESCRIPTION OF ICHTHYOSIS HYSTRIX.

Published in:

1952

By:

Bett, W. R.

Publication type:

Biography

Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 5, p. 329, doi. 10.1111/j.1365-2788.2006.00880.x

By:

Macarov, M.;
Zeigler, M.;
Newman, J. P.;
Strich, D.;
Sury, V.;
Tennenbaum, A.;
Meiner, V.

Publication type:

Article