Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and RAB27A[original query] |
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A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2015 Apr 45 (4): 797-806. Bouzigon E, Nadif R, Thompson E E, Concas M P, Kuldanek S, Du G, Brossard M, Lavielle N, Sarnowski C, Vaysse A, Dessen P, van der Valk R J P, Duijts L, Henderson A J, Jaddoe V W V, de Jongste J C, , Casula S, Biino G, Dizier M-H, Pin I, Matran R, Lathrop M, Pirastu M, Demenais F, Ober C, |
| Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015 Sep . Wuttke Matthias, Wong Craig S, Wühl Elke, Epting Daniel, Luo Li, Hoppmann Anselm, Doyon Anke, Li Yong, , Sözeri Betül, Thurn Daniela, Helmstädter Martin, Huber Tobias B, Blydt-Hansen Tom D, Kramer-Zucker Albrecht, Mehls Otto, Melk Anette, Querfeld Uwe, Furth Susan L, Warady Bradley A, Schaefer Franz, Köttgen An |
| Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. International journal of hematology 2017 Mar . Mukda Ekchol, Trachoo Objoon, Pasomsub Ekawat, Tiyasirichokchai Rawiphorn, Iemwimangsa Nareenart, Sosothikul Darintr, Chantratita Wasun, Pakakasama Sama |
| Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells. Arteriosclerosis, thrombosis, and vascular biology 2018 Jun . Schillemans Maaike, Karampini Ellie, van den Eshof Bart, Gangaev Anastasia, Hofman Menno, van Breevoort Dorothee, Meems Henriët, Janssen Hans, Mulder Aat A, Jost Carolina R, Escher Johanna C, Adam Rüdiger, Carter Tom, Koster Abraham J, van den Biggelaar Maartje, Voorberg Jan, Bierings Rub |
| Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood advances 2020 Jun 4 (12): 2578-2594. Gadoury-Levesque Vanessa, Dong Lei, Su Rui, Chen Jianjun, Zhang Kejian, Risma Kimberly A, Marsh Rebecca A, Sun Mi |
| NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
| Severe adult haemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants. The Journal of allergy and clinical immunology 2023 9 . Coralie Bloch, Jean Philippe Jais, Marine Gil, Marouane Boubaya, Yves Lepelletier, Brigitte Bader-Meunier, Nizar Mahlaoui, Nicolas Garcelon, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean-Marie Michot, Pierre Morel, Morgane Cheminant, Felipe Suarez, Louis Terriou, Geoffrey Urbanski, Jean-Francois Viallard, Alexandre Alcais, Alain Fischer, Geneviève de Saint Basile, Olivier Hermine, |
| Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
| Genetic background of primary and familial HLH in Qatar: registry data and population study. Frontiers in pediatrics 2024 5 12 1326489. Elkhansa Elgaali, Massimo Mezzavilla, Ikhlak Ahmed, Mohammed Elanbari, Aesha Ali, Ghada Abdelaziz, Khalid A Fakhro, Ayman Saleh, Tawfeg Ben-Omran, Naima Almulla, Chiara Cug |
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