Results 141 to 150 of about 14,698 (215)

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers. [PDF]

PLoS One
De Iorio MG, Polli M, Ghilardi S, Frattini S, Bagardi M, Paganelli A, Cozzi MC, Seghrouchni K, Brambilla PG, Minozzi G.   +9 more
europepmc   +1 more source

Hair Improvement in SPINK5-sEDD (Netherton Syndrome) With Dupilumab. [PDF]

Pediatr Dermatol
Costa MB, Santos RB, Granja BV, Cruz MJ, Pedrosa A, Mota A.   +5 more
europepmc   +1 more source

The Role of RCM and LC-OCT in Genodermatoses Associated with Skin Cancer: A Narrative Review. [PDF]

Acta Derm Venereol
Piscazzi F, Carrera C, Riera-Monroig J, Puig S, Malvehy J, Anker J, Ardigò M.   +6 more
europepmc   +1 more source

Repetin Regulates Epidermal Barrier Homeostasis and Is Associated With Inflammatory Skin Diseases. [PDF]

Exp Dermatol
Mizawa M, Makino T, Takemoto K, Kitayama S, Yamamoto S, Shimizu T.   +5 more
europepmc   +1 more source

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review. [PDF]

J Hum Genet
Altıner Ş, Gökpınar İli E, Yurtdaş AK, Kurtçu O, Doğulu N, Öktem A, Köse E, Eminoğlu FT, Yıldırım BT, Aslanger AD, Yeşil Sayın G, Karabulut HG.   +11 more
europepmc   +1 more source

The Candle Spot: An Unreported Sign of SULT2B1-nEDD. [PDF]

Acta Derm Venereol
Milesi S, Chiaverini C, Chêne L, Jonca N, Mazereeuw-Hautier J.   +4 more
europepmc   +1 more source

Bilateral Boston Keratoprosthesis implantation in a case of keratitis-ichthyosis-deafness syndrome after 31 years of follow-up. [PDF]

Digit J Ophthalmol
Cremona F, Jerabek MP.
europepmc   +1 more source

Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Fu W, Chen Y, Zhang N, Chen C.
europepmc   +1 more source

Identification of Novel Mutation in the <i>ABCA12</i> Gene Causing Harlequin Ichthyosis. [PDF]

Clin Case Rep
Soltani N, Bayati Z, Soosanabadi M, Zamani A, Lotfi A, Gholami M.   +5 more
europepmc   +1 more source

Atopic Dermatitis with Ichthyosis, Recurrent Fungal and Viral Infections: A Case of Concurrent <i>FLG</i> and Multiple Immune-Related Gene Mutations. [PDF]

Clin Cosmet Investig Dermatol
Huang C, Sun J, Zhang C.
europepmc   +1 more source