Results 171 to 180 of about 3,504 (191)

Diagnostica molecolare delle genodermatosi

2011
E passato poco piu di un ventennio dai primi approcci non clinici per la diagnosi delle malattie genetiche cutanee: in questo spazio di tempo la comunita scientifica internazionale ha coperto una distanza cosmica.
Gianluca Tadini, Lidia Pezzani, Michela Brena, Maria Pia Boldrini   +3 more
openaire   +1 more source

Delayed diagnosis of a scaling genodermatosis

BMJ Case Reports, 2023
Clare Harnett, Mohammad Al-Jubouri, Nekma Meah   +2 more
openaire   +2 more sources

Skin Necrosis in Children: Genodermatosis

The term genodermatosis comprises a large group of dermatoses caused by genetic defects, including monogenic and mosaic disorders. From the physiopathogenic point of view, various compartments of the skin can be disturbed, such as intraepidermal or epidermal-dermal adhesion, cornification, DNA repair, the vascular system, etc.
Cristina Has, Agnes Schwieger-Briel, Has Cristina   +2 more
exaly   +3 more sources

Genodermatosis

2022
openaire   +1 more source

Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis

Journal of the American Academy of Dermatology, 2023
Daniele Torchia, Rudolf Happle
exaly  

[Research advances of genodermatosis in China].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2008
Research in the field of genetic skin disease has grown rapidly over the past two decades. Even though the fundamental molecular pathways are still not fully understood, there have prominent advances in our understanding of the underlying mechanisms involved in the pathogenesis of genodermatosis.
Yong, Yang, Xi-xue, Chen, Hang, Li, Yan, Wu, Ding-fang, Bu, Xue-jun, Zhu   +5 more
openaire   +1 more source

genodermatosis, n.

2023
openaire   +1 more source

Segmental neurofibromatosis: a rare variant of a common genodermatosis.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2010
Segmental neurofibromatosis is a rare disorder characterized by features of neurofibromatosis type 1 circumscribed to a particular body segment. This entity is considered to be the result of a somatic mosaicism and is still under-diagnosed. We report a case of segmental neurofibromatosis and give a brief and up-to-date overview of the disease.
Azevedo, Filomena, Bettencourt, Herberto, Ferreira, Olga, Morais, Paulo   +3 more
openaire   +2 more sources

A “new” autosomal dominant genodermatosis characterized by hyperpigmented spots and palmo‐ plantar hyperkeratosis

Clinical Genetics, 1978
R Fragoso, D García-Cruz
exaly  

Epidermolysis Bullosa in France: Management in the National Reference Center for Genodermatosis

Dermatologic Clinics, 2010
Christine Bodemer
exaly