Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Rina Allawh"'
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Akademický článek
Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder
Autor: Douglas Ralph, Rina Allawh, Ian F. Terry, Sharon F. Terry, Jouni Uitto, Qiao-Li Li
Publikováno v: International Journal of Dermatology and Venerology, Vol 3, Iss 4, Pp 198-204 (2020)
Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, an
Externí odkaz: https://doaj.org/article/a38ed1a3e16641f1ba0c54ef4c94ec6d
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3
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis
Autor: John J, DiGiovanna, Grant, Randall, Alexandra, Edelman, Rina, Allawh, Michael, Xiong, Deborah, Tamura, Sikandar G, Khan, Elizabeth R H, Rizza, James C, Reynolds, Scott M, Paul, Suvimol C, Hill, Kenneth H, Kraemer
Publikováno v: American journal of medical genetics. Part A. 188(12)
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a cohort of 37 patients w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d902dc0a333dc92bdcc3e0edff42186c
https://pubmed.ncbi.nlm.nih.gov/36103153
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4
The burden of cutaneous disease in solid organ transplant recipients of color
Autor: Alden M. Doyle, Rina Allawh, Catherine A. Harwood, Jonathan Kentley, Kumar Nadhan, Amar Ahmad, Charlotte M. Proby, Swati Rao, Christina L. Chung
Publikováno v: American Journal of Transplantation. 21:1215-1226
Organ transplant recipients (OTRs) are at increased risk of cutaneous malignancy. Skin disorders in OTRs of color (OTRoC) have rarely been systematically assessed. We aimed to ascertain the burden of skin disease encountered in OTRoC by prospectively
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97661839c9b4eb16790c922608b88937
https://doi.org/10.1111/ajt.16210
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5
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder
Autor: Qiaoli Li, Jouni Uitto, Ian F. Terry, Douglas Ralph, Sharon F. Terry, Rina Allawh
Publikováno v: Int J Dermatol Venereol
International Journal of Dermatology and Venerology, Vol 3, Iss 4, Pp 198-204 (2020)
Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiova
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e2f57b7b8d3df258a28450a3797871
https://europepmc.org/articles/PMC8680818/
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7
Isolation of Leclercia adecarboxylata from a patient with a subungual splinter
Autor: Rina, Allawh, Brendan J, Camp
Publikováno v: Dermatology online journal. 21(8)
Leclercia adecarboxylata is a rarely described motile, aerobic, gram-negative bacillus reported to cause clinically significant solitary infections in immunocompromised patients and polymicrobial wound infections in immunocompetent patients [1-5]. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9ed1e6f88989f701d4ce3a6ac631ed90
https://pubmed.ncbi.nlm.nih.gov/26437172
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