Results 111 to 120 of about 7,515 (243)

Corrigendum to “Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967 Mb” [J. Dermatol. Sci. 67(September (3)) (2012) 210–212] [PDF]

, 2012
Ons Mamaï, L. Boussofara, Labiba Adala, Abdelbasset Amara, Ilhem Ben Charfeddine, N. Ghariani, Badreddine Sriha, M. Denguezli, A. Mili, T. Belazreg, A. Saad, Moez Gribaa   +11 more
openalex   +1 more source

Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran [PDF]

, 2011
Background: Non-syndromic hearing loss may be induced by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA are present in less than 1% of the children with pre-lingual deafness but are more prevalent later.
Abolhasani, Marzieh., Akbari, mohammad taghi., Ataei, Zohreh., Azadegan-Dehkordi, Fatemeh., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Khazraei, Hamid., Montazer Zohouri, Mostafa, Reisi, Somayeh, Saedi-Marghmaleki, Mojtaba., Shirmardi, Seyed Abolfath.   +10 more
core   +1 more source

Aquagenic Palmoplanta keratoderma: Response to Topical Pimecrolimus and Literature Review

Clinical, Cosmetic and Investigational Dermatology
Jinpeng Shan, Rukang Chen Department of Dermatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310005, People’s Republic of ChinaCorrespondence: Rukang Chen, Department of Dermatology, The Second ...
Shan J, Chen R
doaj  

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma [PDF]

, 2014
Megan Furniss, Claire A. Higgins, Amalia Martı́nez-Mir, Liran Horev, Lynn Petukhova, Andrija Stanimirović, Jovan Miljković, Abraham Zlotogorski, Angela M. Christiano   +8 more
openalex   +1 more source

Inhibiting EGFR Signaling Holds Promise for Treating Palmoplantar Keratodermas [PDF]

, 2023
Pierre A. Coulombe, Amanda Orosco
openalex   +1 more source

A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma

, 2014
Ming Li, Xunyi Dai, Ruhong Cheng, Lijia Yang, Zhirong Yao, Jiangbo Liu   +5 more
openalex   +2 more sources

Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin [PDF]

, 2020
Nosheen Reza, Lily Hoffman‐Andrews, Jessica L. Chowns, Amy Marzolf, Bridget E. Shields, Anjali Owens   +5 more
openalex   +1 more source

Linear Palmoplantar Keratoderma

Actas Dermo-Sifiliográficas (English Edition), 2018
A, Imbernón-Moya, A, Aguilar-Martínez, E, Vargas-Laguna   +2 more
openaire   +2 more sources

Unilateral linear punctate palmoplantar keratoderma

, 2011
KrishnaDeb Barman, Sudhanshu Sharma, VijayKumar Garg, Shalu Jain   +3 more
openalex   +2 more sources

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source