Results 141 to 150 of about 6,529 (236)

A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis

Molecular Therapy: Methods & Clinical Development
L. Sercia, Oriana Romano, Grazia Marini, E. Enzo, Mattia Forcato, L. De Rosa, Michele De Luca   +6 more
semanticscholar   +1 more source

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]

Indian Dermatol Online J
Tandon S, Muthyala R, Bhalla D, Yenamandra VK.   +3 more
europepmc   +1 more source

Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.

Journal of Investigative Dermatology
Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, S. Alter, J. Kopp, A. Hotz, A. Zimmer, Ingrid Hausser-Siller, R. Sandhoff, V. Oji, Judith Fischer   +10 more
semanticscholar   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases. [PDF]

Acta Derm Venereol
Xiang R, Huang X, Liu Y, Sun S, Hua D, Mo R, Yang Y, Chen Z.   +7 more
europepmc   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis. [PDF]

Case Rep Dermatol Med
Fathizadeh S, Woods AD, Escobar ST, Tsoukas M.   +3 more
europepmc   +1 more source

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy. [PDF]

Int J Mol Sci
Ponomarev A, Ganiev I, Aimaletdinov A, Mansurova M, Titova A, Rizvanov A, Solovyeva V.   +6 more
europepmc   +1 more source

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]

Biomedicines
Liu J, Fu Y, Zhang Q, Chen Q, Yang Y, Xue Y, Ren Y.   +6 more
europepmc   +1 more source

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
Nagshabandi KN, Alsalhi A.
europepmc   +1 more source

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions [PDF]

, 2017
Barta, Endre, Fésüs, László, Király, Róbert   +2 more
core   +1 more source