Results 1 to 10 of about 300,243 (163)

Analogs of human genetic skin disease in domesticated animals

International Journal of Women's Dermatology, 2017
Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists ...
Justin Finch, MD, Stephanie Abrams, DVM, Amy Finch, MBA   +2 more
doaj   +3 more sources

Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa

Stem Cell Research, 2023
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen.
Camille Vincent, Nathalie Lefort, Mathieu Hamlin, Céline Banal, Alain Hovnanian, Araksya Izmiryan   +5 more
doaj   +1 more source

Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB

Acta Dermato-Venereologica, 2022
is missing (Short communication)
Jeanne Ramspacher, Virginie Carmignac, Pierre Vabres, Juliette Mazereeuw-Hautier   +3 more
doaj   +1 more source

Analysis of tumor response and clinical factors associated with vitiligo in patients receiving anti–programmed cell death-1 therapies for melanoma: A cross-sectional studyCapsule Summary

JAAD International, 2021
Background: Clinical factors associated with vitiligo in patients receiving anti–programmed cell death-1 (PD-1) remain unknown. Objective: To better characterize the occurrence of vitiligo in patients receiving anti–PD-1.
Léa Dousset, MD, Alize Pacaud, MD, Thomas Barnetche, PhD, Marie Kostine, MD, PhD, Caroline Dutriaux, MD, Anne Pham-Ledard, MD, PhD, Marie Beylot-Barry, MD, PhD, Emilie Gérard, MD, Sorilla Prey, MD, PhD, Nicolas Andreu, BSc, Katia Boniface, PhD, Julien Seneschal, MD, PhD   +11 more
doaj   +1 more source

Genetic Diseases of the Skin [PDF]

Journal of Medical Genetics, 1980
Although Cockayne's text remains the unbeatable classic, there is need for a new textbook dealing with genetic diseases affecting the skin. The last such comprehensive text (Butterworth and Strean's Clinical Genodermatology ) was published 25 years ago.
  +4 more sources

The Genetics of Human Skin Disease [PDF]

Cold Spring Harbor Perspectives in Medicine, 2014
The skin is composed of a variety of cell types expressing specific molecules and possessing different properties that facilitate the complex interactions and intercellular communication essential for maintaining the structural integrity of the skin.
Gina M, DeStefano, Angela M, Christiano
openaire   +2 more sources

Segmental Darier's disease: a presentation of difficult diagnosis [PDF]

Anais Brasileiros de Dermatologia, 2015
Darier's disease is a rare autosomal dominant genodermatosis. It has an estimated prevalence of 1 in 55,000 to 100,000 individuals, regardless of gender.
Paula Mota Medeiros, Natália Ribeiro de Magalhães Alves, Jeniffer Muñoz Trujillo, Cássia Camarinha da Silva, Paula Carolina Pessanha de Faria, Roberto Souto da Silva   +5 more
doaj   +1 more source

Genetics of Skin Disease in Horses

Veterinary Clinics of North America: Equine Practice, 2020
Equine skin diseases are common, causing increased costs and reduced welfare of affected horses.Genetic testing, if available, can complement early detection, disease diagnosis, and clinical treatment and offers horse breeders the possibility to rule out carrier status.
Lindgren, Gabriella, Naboulsi, Rakan, Frey, Rebecka, Sole, Marina   +3 more
openaire   +3 more sources

Ultrasonographic features of cutaneous myxomas in a patient with Carney complex, [PDF]

Anais Brasileiros de Dermatologia, 2022
Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite
Monica Quintana-Codina, Marina Corral-Forteza, Maribel Iglesias-Sancho, Montse Salleras-Redonnet   +3 more
doaj   +1 more source

Syndrome in Question [PDF]

Anais Brasileiros de Dermatologia, 2015
Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome.
Juliano Peruzzo, Fernanda Luca Nazar, Mariana Quirino Tubone, Gabriela Fortes Escobar, Tania Ferreira Cestari   +4 more
doaj   +1 more source