HuGE Literature Finder
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| [Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
| High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B. Frontiers in immunology 2018 9 848. Pouw Richard B, Gómez Delgado Irene, López Lera Alberto, Rodríguez de Córdoba Santiago, Wouters Diana, Kuijpers Taco W, Sánchez-Corral Pil |
| MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas. Human reproduction open 2018 2018 (4): hoy020. Heikkinen Tuomas, Äyräväinen Anna, Hänninen Janne, Ahvenainen Terhi, Bützow Ralf, Pasanen Annukka, Vahteristo P |
| Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. Journal of the American College of Cardiology 2017 Oct 70 (14): 1732-1740. Amor-Salamanca Almudena, Castillo Sergio, Gonzalez-Vioque Emiliano, Dominguez Fernando, Quintana Lucía, Lluís-Ganella Carla, Escudier Juan Manuel, Ortega Javier, Lara-Pezzi Enrique, Alonso-Pulpon Luis, Garcia-Pavia Pab |
| Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval. Endocrine-related cancer 2015 Aug 22 (4): 633-43. Aissani Brahim, Zhang Kui, Mensenkamp Arjen R, Menko Fred H, Wiener Howard |
| Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. PloS one 2014 9 (6): e99893. Giacomazzi Juliana, Graudenz Marcia S, Osorio Cynthia A B T, Koehler-Santos Patricia, Palmero Edenir I, Zagonel-Oliveira Marcelo, Michelli Rodrigo A D, Scapulatempo Neto Cristovam, Fernandes Gabriela C, Achatz Maria Isabel W S, Martel-Planche Ghyslaine, Soares Fernando A, Caleffi Maira, Goldim José Roberto, Hainaut Pierre, Camey Suzi A, Ashton-Prolla Patric |
| Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
| Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. The Journal of clinical endocrinology and metabolism 2012 Nov 97 (11): 3956-64. Benn Marianne, Watts Gerald F, Tybjaerg-Hansen Anne, Nordestgaard Børge |
| Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome. Arthritis research & therapy 2012 14 (4): R185. Foltyn Zadura Anna, Zipfel Peter F, Bokarewa Maria I, Sturfelt Gunnar, Jönsen Andreas, Nilsson Sara C, Hillarp Andreas, Saxne Tore, Trouw Leendert A, Blom Anna |
| Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. European journal of internal medicine 2011 Oct 22 (5): e55-9. Diakou Maria, Miltiadous George, Xenophontos Stavroulla L, Manoli Panayiotis, Cariolou Marios A, Elisaf Mos |
| Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. The Journal of clinical endocrinology and metabolism 2009 Nov 94 (11): 4391-7. Solanas-Barca María, Mateo-Gallego Rocío, Calmarza Pilar, Jarauta Estíbaliz, Bea Ana M, Cenarro Ana, Civeira Fernan |
| The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of medical genetics 2009 Jul 46 (7): 447-50. Dragon-Durey M-A, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman W H, Frémeaux-Bacchi |
| Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 Sep 100 (17): 1260-2. Ricketts Christopher, Woodward Emma R, Killick Pip, Morris Mark R, Astuti Dewi, Latif Farida, Maher Eamonn |
| Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. The American journal of pathology 2004 Jan 164 (1): 17-22. Lehtonen Rainer, Kiuru Maija, Vanharanta Sakari, Sjöberg Jari, Aaltonen Leena-Maija, Aittomäki Kristiina, Arola Johanna, Butzow Ralf, Eng Charis, Husgafvel-Pursiainen Kirsti, Isola Jorma, Järvinen Heikki, Koivisto Pasi, Mecklin Jukka-Pekka, Peltomäki Päivi, Salovaara Reijo, Wasenius Veli-Matti, Karhu Auli, Launonen Virpi, Nupponen Nina N, Aaltonen Lauri |
| The A1 allele of the DRD2 gene (TaqI A polymorphisms) is associated with antisocial personality in a sample of alcohol-dependent patients. European psychiatry : the journal of the Association of European Psychiatrists 2003 Nov 18 (7): 356-60. Ponce G, Jimenez-Arriero M A, Rubio G, Hoenicka J, Ampuero I, Ramos J A, Palomo |
| Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece. Human mutation 2001 May 17 (5): 432-3. Miltiadous G, Elisaf M, Bairaktari H, Xenophontos S L, Manoli P, Cariolou M |
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- Page last updated:Jun 22, 2022
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