From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Autor: Eichstadt S, Tang JY, Solis DC, Siprashvili Z, Marinkovich MP, Whitehead N, Schu M, Fang F, Erickson SW, Ritchey ME, Colao M, Spratt K, Shaygan A, Ahn MJ, Sarin KY

Publikováno v: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 12, Pp 933-942 (2019)

Shaundra Eichstadt,1 Jean Y Tang,1 Daniel C Solis,1 Zurab Siprashvili,1 M Peter Marinkovich,1,2 Nedra Whitehead,3 Matthew Schu,3 Fang Fang,3 Stephen W Erickson,3 Mary E Ritchey,3 Max Colao,4 Kaye Spratt,4 Amir Shaygan,5 Mark J Ahn,5 Kavita Y Sarin1 1

Externí odkaz: https://doaj.org/article/e8080e94bdec4a2d8796a1872a75f3cf

Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey.

Autor: Eng VA; Department of Dermatology, Stanford University School of Medicine, California., Solis DC; Department of Internal Medicine, University of California Riverside., Gorell ES; Department of Dermatology, Stanford University School of Medicine, California., Choi S; Department of Dermatology, Stanford University School of Medicine, California., Nazaroff J; University of California Irvine School of Medicine., Li S; Department of Dermatology, Stanford University School of Medicine, California., de Souza MP; deSouzaTech, LLC, Berkeley, California., Murrell DF; University of New South Wales, Sydney, Australia., Marinkovich MP; Department of Dermatology, Stanford University School of Medicine, California; Department of Dermatology, Palo Alto Veterans Affairs Medical Center, California., Tang JY; Department of Dermatology, Stanford University School of Medicine, California. Electronic address: tangy@stanford.edu.

Publikováno v: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2021 Nov; Vol. 85 (5), pp. 1161-1167. Date of Electronic Publication: 2020 Mar 19.

Clinical characteristics associated with increased wound size in patients with recessive dystrophic epidermolysis bullosa.

Autor: Solis DC; Department of Internal Medicine, University of California Riverside, Riverside, CA, USA., Gorell ES; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Dermatology, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Teng C; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA., Barriga M; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA., Nazaroff J; School of Medicine, University of California Irvine, Irvine, CA, USA., Li S; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA., Subica A; Department of Internal Medicine, University of California Riverside, Riverside, CA, USA., Lu Y; Department of Biomedical Data Science Administration, Stanford University, Stanford, CA, USA., Marinkovich MP; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.; Veterans Affairs Medical Center, Palo Alto, CA, USA., Tang JY; Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.

Publikováno v: Pediatric dermatology [Pediatr Dermatol] 2021 May; Vol. 38 (3), pp. 704-706. Date of Electronic Publication: 2021 Mar 21.

Phase 2 trial of a neurokinin-1 receptor antagonist for the treatment of chronic itch in patients with epidermolysis bullosa: A randomized clinical trial.

Autor: Chiou AS; Department of Dermatology, Stanford University School of Medicine, Redwood City, California. Electronic address: achiou@stanford.edu., Choi S; Department of Dermatology, Stanford University School of Medicine, Redwood City, California., Barriga M; Department of Dermatology, Stanford University School of Medicine, Redwood City, California., Dutt-Singkh Y; Department of Dermatology, Stanford University School of Medicine, Redwood City, California., Solis DC; Department of Internal Medicine, University of California, Riverside, California., Nazaroff J; University of California, Irvine School of Medicine, Irvine, California., Bailey-Healy I; Department of Dermatology, Stanford University School of Medicine, Redwood City, California., Li S; Department of Dermatology, Stanford University School of Medicine, Redwood City, California., Shu K; Menlo Therapeutics Inc (formerly Tigercat Pharma, Inc), Redwood City, California., Joing M; Menlo Therapeutics Inc (formerly Tigercat Pharma, Inc), Redwood City, California., Kwon P; Menlo Therapeutics Inc (formerly Tigercat Pharma, Inc), Redwood City, California., Tang JY; Department of Dermatology, Stanford University School of Medicine, Redwood City, California.

Publikováno v: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2020 Jun; Vol. 82 (6), pp. 1415-1421. Date of Electronic Publication: 2019 Sep 18.

Penetrance and clinical consequences of a gross SDHB deletion in a large family.

Autor: Solis DC; Reproductive and Adult Endocrinology Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1109, USA., Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K

Publikováno v: Clinical genetics [Clin Genet] 2009 Apr; Vol. 75 (4), pp. 354-63.