Results 111 to 120 of about 1,627,653 (237)

Incontinentia pigmenti: A series of six cases with isolated cutaneous involvement

Indian Dermatology Online Journal
Incontinentia pigmenti (IP) is a rare multi-system genetic disorder mostly affecting females. It presents primarily with cutaneous lesions but is often associated with dental, ocular, neurological, musculoskeletal, and cardiovascular abnormalities.
Bhumesh K Katakam, Narsimha Rao Netha Gurram, Sudharani Chintagunta, Arunima Dhabal   +3 more
doaj   +1 more source

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Genetics in Medicine Open
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify
Conghui Wang, Panlai Shi, Hongbin Liang, David S. Cram, Donald A. Leigh, Xiangdong Kong   +5 more
doaj   +1 more source

Topical Gentamicin for the Treatment of Genetic Skin Diseases.

Journal of Investigative Dermatology, 2018
A. Pasmooij
semanticscholar   +1 more source

Gene Therapy for Genetic Skin Disease [PDF]

Journal of Investigative Dermatology, 1998
openaire   +2 more sources

Editorial: Neutrophil-Mediated Skin Diseases: Immunology and Genetics [PDF]

Frontiers in Immunology, 2019
Angelo V. Marzano, Angelo V. Marzano, Dan Lipsker, Massimo Cugno, Massimo Cugno   +4 more
openaire   +4 more sources

Familial porokeratosis Mibelli

Przegląd Dermatologiczny, 2018
Katarzyna A. Tomaszewska, Małgorzata Dominiak, Anna M. Zalewska-Janowska, Andrzej Kaszuba   +3 more
doaj   +1 more source

Causal Associations Between Chronic Inflammatory Skin Diseases and Alzheimer's Disease: A Bidirectional Two-Sample Mendelian Randomization Study. [PDF]

Clin Cosmet Investig Dermatol
Cai Y, Dai W, Liu F, Li Z, Liu G.
europepmc   +1 more source

Editorial: Insights in genetics, genomics and epigenomics of aging: 2025. [PDF]

Front Aging
Reale M.
europepmc   +1 more source

External exposome and allergic respiratory and skin diseases

Journal of Allergy and Clinical Immunology, 2018
L. Cecchi, G. D'Amato, I. Annesi-Maesano
semanticscholar   +1 more source

Genome-Wide Association Study Identifies Genetic Loci for Antibody Response to SARS-CoV-2 Vaccines in Patients With Systemic Autoimmune Diseases and Healthy Individuals. [PDF]

J Rheumatol
Kim K, Claybaugh D, Patino-Martinez E, Temesgen-Oyelakin Y, Poncio E, Chu J, Davis M, Fike A, Ruiz-Perdomo Y, Onyechi J, Beach M, Howard L, Pelayo E, Spencer N, Sully M, Volochayev R, Kelly S, Porche S, Lewandowski LB, Franco LM, Manna Z, Gupta S, Hutchinson A, Mirabello L, Vij V, Quinn KA, Grayson PC, Schiffenbauer A, Rider LG, Pinal-Fernandez I, Mammen AL, Kalish HR, Waldman MA, Warner B, Hasni S, Chanock SJ, Kaplan MJ.   +36 more
europepmc   +1 more source