Results 51 to 60 of about 9,316 (182)

Epidermolysis Bullosa Dystrophica Recessive Fibroblasts Altered Behavior Within a Collagen Matrix [PDF]

, 1983
Normal human fibroblasts incorporated into a collagen lattice reduce the size of that lattice over a period of time. Lattice size reduction or lattice contraction is directly related to initial cell number.
Hayashi, Kimiko, Buttle, David J., Trelstad, Robert L., Ehrlich, H. Paul   +3 more
core   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Inheritance of the Epidermolysis Bullosa Subtypes [PDF]

, 2023
Epidermolysis bullosa (EB) is a group of inherited disorders that cause skin to blister and tear easily. The disease is caused by mutations in structural proteins that are key for maintaining the integrity of the skin’s basement membrane zone or ...
Beadini, Nexbedin, Elezi, Nevzat, Zhaku, Vegim, Bilalli, Sefedin, Uzeiri-Havziu, Crita, Beadini, Albulena, Alija, Gjylai, Temaj, Anjeza, Nuhii, Nexhibe, Elezi, Ron, Beadini, Sheqibe, Haxhiu- Zajmi, Arlinda, Gashi, Yllka, Shabani, Arjeta   +13 more
core   +1 more source

International Symposium on Epidermolysis Bullosa [PDF]

, 1994
An international symposium on inherited epidermolysis bullosa was held at the University of North Carolina at Chapel Hill on April 25–26, 1994. All areas currently of clinical and research interest pertinent to this disease were discussed, ranging from ...
Fine, Jo-David
core   +1 more source

Colon interposition for esophageal stenosis in a patient with epidermolysis bullosa

, 2001
Epidermolysis bullosa (EB) is a disease with 3 forms, most hereditary, characterized by spontaneous blistering lesions. The autosomally inherited form, epidermolysis bullosa dystrophica recessive (EBDR), is responsible for esophageal lesions consisting ...
Kale, N, Karabulut, RAMAZAN, Basaklar, AC, Sonmez, KAAN, Turkyilmaz, ZAFER, Altuntas, B, Demirogullari, B   +6 more
core   +1 more source

Epidermolysis Bullosa Dystrophica [PDF]

Proceedings of the Royal Society of Medicine, 1975
T J Ryan, M J O Francis, W B Reed
openaire   +4 more sources

Inherited epidermolysis bullosa: clinical and therapeutic aspects Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

Anais Brasileiros de Dermatologia, 2013
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction ...
Vanessa Lys Simas Yamakawa Boeira, Erica Sales Souza, Bruno de Oliveira Rocha, Pedro Dantas Oliveira, Maria de Fátima Santos Paim de Oliveira, Vitória Regina Pedreira de Almeida Rêgo, Ivonise Follador   +6 more
doaj  

Dystrophic Epidermolysis Bullosa

, 2018
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Shumneva Shrestha, Sanjay Kumar Gupta, Randhir Sagar Yadav, Upama Paudel, Amar Jayswal   +4 more
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Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

, 2015
Dystrophic epidermolysis bullosa is an inherited disease presenting with blistering of the skin in the subdermal layer caused by gene COL7A1 mutations. The authors reviewed a case of this disease determined by two mutations: dominant and recessive.
Egle Aukstuoliene, Marius Sukys, Danielius Serapinas   +2 more
core   +1 more source

Integration of pupil with Epidermolysis bullosa dystrophica disease with special focus on physical education into the primary school education [PDF]

, 2015
Title: Integration of pupil with epidermolysis bullosa dystrophica disease with special focus on physical education into the primary school education. Objectives: The aim of this thesis is to point out possibilities of pupil's integration with corporal ...
Kepič, Roman
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