Zobrazeno 1 - 10
of 190
pro vyhledávání: '"Ramsey Johnson"'
Autor:
Amy S. Paller, Elena Pope, Dan Rudin, Anna Malyala, Deborah Ramsdell, Ramsey Johnson, Hal Landy, Dedee F. Murrell, the DEB Investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical trial endpoints. Metho
Externí odkaz:
https://doaj.org/article/3e75f577df8b4e79a2c4a0961c0877f0
Autor:
Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or an
Externí odkaz:
https://doaj.org/article/0150e33520264ab79bca69a84cac4ccc
Autor:
Amy S, Paller, Elena, Pope, Dan, Rudin, Anna, Malyala, Deborah, Ramsdell, Ramsey, Johnson, Hal, Landy, Dedee F, Murrell
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical trial endpoints. Methods Patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a6ede06dbadc2c19f09c05a646ebb0
https://pubmed.ncbi.nlm.nih.gov/35964087
https://pubmed.ncbi.nlm.nih.gov/35964087
Autor:
Volker O. Melichar, Kenneth M. Huttner, Johannes Menzel-Severing, Jung Park, Johanna Hammersen, Ramsey Johnson, Sigrun Wohlfart, R. Meiller, Florence Porte, Holm Schneider
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d046d56a7f66dea3834cedb4dbe884
https://opus4.kobv.de/opus4-fau/files/14412/Wohlfart_natural.pdf
https://opus4.kobv.de/opus4-fau/files/14412/Wohlfart_natural.pdf
Autor:
Ophir D. Klein, Rosalie Brao, Zhifeng Wang, Maya Landan, Benedikt Hallgrímsson, Dorothy K. Grange, Margaret Langham, Snehlata Oberoi, Richard A. Spritz, Ramsey Johnson, Jacinda R. Larson, Kenneth M. Huttner, Vagan Mushegyan, Andrew H. Jheon, Anne Boekelheide, Alice F. Goodwin, Timothy Wen, Kyle B. Jones, Denise K. Liberton
Publikováno v:
Molecular Genetics & Genomic Medicine
Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d7560e5266662508f5c031b2f7d319
https://doi.org/10.1002/mgg3.84
https://doi.org/10.1002/mgg3.84
Autor:
Emad Bahrami-Samani, Philip J. Uren, Ramsey Johnson, Lisa D. McDaniel, Catherine Terhaar, Jennifer C. Luque
Publikováno v:
Fertility and Sterility. 112:e258
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e221529e9c80d6f011ff36cc8a35ea9
https://doi.org/10.1016/j.fertnstert.2019.07.779
https://doi.org/10.1016/j.fertnstert.2019.07.779
Autor:
Andrew H. Jheon, Kenneth M. Huttner, Maya Landan, Ophir D. Klein, Jacob Hogue, Alice F. Goodwin, Wenli Yu, Ramsey Johnson, Dong-Kha Tran, Mary Fete, Tarek Hussein, Miquella G. Chavez, Kyle B. Jones, Kerstin Seidel
Publikováno v:
American journal of medical genetics. Part A, vol 161A, iss 7
Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0969bba469146c916b9f8901945bbed8
https://doi.org/10.1002/ajmg.a.35959
https://doi.org/10.1002/ajmg.a.35959
Autor:
Thomas Kaercher, Ramsey Johnson, Theodor Zimmermann, Holm Schneider, Kenneth M. Huttner, Anne-Theres Schneider, Jasna Dietz
Publikováno v:
European Journal of Pediatrics. 172:1023-1031
X-linked hypohidrotic ectodermal dysplasia (XLHED; ectodysplasin deficiency) has been classically described as affecting hair, sweat glands, and dentition. What may be underappreciated is the effect ectodysplasin deficiency has on glands surrounding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215c12a1916adaa5a556233749c492c2
https://doi.org/10.1007/s00431-013-1985-8
https://doi.org/10.1007/s00431-013-1985-8
Autor:
Lu Gan, Emily Dick, David C. Dale, Ramsey Johnson, Merideth L. Kelley, Sudha Parasuraman, Audrey Anna Bolyard, Vahagn Makaryan
Publikováno v:
Blood. 130:995-995
Background: WHIM syndrome (WHIMs; Warts, Hypogammaglobulinemia, Infections, Myelokathexis) is a rare autosomal dominant immunodeficiency disease attributable to mutations in CXCR4 . Most patients have severe neutropenia and lymphocytopenia with total
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5a542a97097c264297c9b7a4ff71668
https://doi.org/10.1182/blood.v130.suppl_1.995.995
https://doi.org/10.1182/blood.v130.suppl_1.995.995