Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Disease and ALMS1[original query] |
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| Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Human mutation 2007 Nov 28 (11): 1114-23. Marshall Jan D, Hinman Elizabeth G, Collin Gayle B, Beck Sebastian, Cerqueira Rita, Maffei Pietro, Milan Gabriella, Zhang Weidong, Wilson David I, Hearn Tom, Tavares Purificação, Vettor Roberto, Veronese Caterina, Martin Mitchell, So W Venus, Nishina Patsy M, Naggert Jürgen |
New loci associated with kidney function and chronic kidney disease.
Nature genetics 2010 May 42 (5): 376-84. Köttgen Anna, Pattaro Cristian, Böger Carsten A, Fuchsberger Christian, Olden Matthias, Glazer Nicole L, Parsa Afshin, Gao Xiaoyi, Yang Qiong, Smith Albert V, O'Connell Jeffrey R, Li Man, Schmidt Helena, Tanaka Toshiko, Isaacs Aaron, Ketkar Shamika, Hwang Shih-Jen, Johnson Andrew D, Dehghan Abbas, Teumer Alexander, Paré Guillaume, Atkinson Elizabeth J, Zeller Tanja, Lohman Kurt, Cornelis Marilyn C, Probst-Hensch Nicole M, Kronenberg Florian, Tönjes Anke, Hayward Caroline, Aspelund Thor, Eiriksdottir Gudny, Launer Lenore J, Harris Tamara B, Rampersaud Evadnie, Mitchell Braxton D, Arking Dan E, Boerwinkle Eric, Struchalin Maksim, Cavalieri Margherita, Singleton Andrew, Giallauria Francesco, Metter Jeffrey, de Boer Ian H, Haritunians Talin, Lumley Thomas, Siscovick David, Psaty Bruce M, Zillikens M Carola, Oostra Ben A, Feitosa Mary, Province Michael, de Andrade Mariza, Turner Stephen T, Schillert Arne, Ziegler Andreas, Wild Philipp S, Schnabel Renate B, Wilde Sandra, Munzel Thomas F, Leak Tennille S, Illig Thomas, Klopp Norman, Meisinger Christa, Wichmann H-Erich, Koenig Wolfgang, Zgaga Lina, Zemunik Tatijana, Kolcic Ivana, Minelli Cosetta, Hu Frank B, Johansson Asa, Igl Wilmar, Zaboli Ghazal, Wild Sarah H, Wright Alan F, Campbell Harry, Ellinghaus David, Schreiber Stefan, Aulchenko Yurii S, Felix Janine F, Rivadeneira Fernando, Uitterlinden Andre G, Hofman Albert, Imboden Medea, Nitsch Dorothea, Brandstätter Anita, Kollerits Barbara, Kedenko Lyudmyla, Mägi Reedik, Stumvoll Michael, Kovacs Peter, Boban Mladen, Campbell Susan, Endlich Karlhans, Völzke Henry, Kroemer Heyo K, Nauck Matthias, Völker Uwe, Polasek Ozren, Vitart Veronique, Badola Sunita, Parker Alexander N, Ridker Paul M, Kardia Sharon L R, Blankenberg Stefan, Liu Yongmei, Curhan Gary C, Franke Andre, Rochat Thierry, Paulweber Bernhard, Prokopenko Inga, Wang Wei, Gudnason Vilmundur, Shuldiner Alan R, Coresh Josef, Schmidt Reinhold, Ferrucci Luigi, Shlipak Michael G, van Duijn Cornelia M, Borecki Ingrid, Krämer Bernhard K, Rudan Igor, Gyllensten Ulf, Wilson James F, Witteman Jacqueline C, Pramstaller Peter P, Rettig Rainer, Hastie Nick, Chasman Daniel I, Kao W H, Heid Iris M, Fox Caroline |
| Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. PLoS genetics 2011 Sep 7 (9): e1002292. Böger Carsten A, Gorski Mathias, Li Man, Hoffmann Michael M, Huang Chunmei, Yang Qiong, Teumer Alexander, Krane Vera, O'Seaghdha Conall M, Kutalik Zoltán, Wichmann H-Erich, Haak Thomas, Boes Eva, Coassin Stefan, Coresh Josef, Kollerits Barbara, Haun Margot, Paulweber Bernhard, Köttgen Anna, Li Guo, Shlipak Michael G, Powe Neil, Hwang Shih-Jen, Dehghan Abbas, Rivadeneira Fernando, Uitterlinden André, Hofman Albert, Beckmann Jacques S, Krämer Bernhard K, Witteman Jacqueline, Bochud Murielle, Siscovick David, Rettig Rainer, Kronenberg Florian, Wanner Christoph, Thadhani Ravi I, Heid Iris M, Fox Caroline S, Kao W H, |
| Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis. Circulation. Cardiovascular genetics 2013 Dec 6 (6): 569-78. Ichihara Sahoko, Yamamoto Ken, Asano Hiroyuki, Nakatochi Masahiro, Sukegawa Mayo, Ichihara Gaku, Izawa Hideo, Hirashiki Akihiro, Takatsu Fumimaro, Umeda Hisashi, Iwase Mitsunori, Inagaki Haruo, Hirayama Haruo, Sone Takahito, Nishigaki Kazuhiko, Minatoguchi Shinya, Cho Myeong-Chan, Jang Yangsoo, Kim Hyo-Soo, Park Jeong E, Tada-Oikawa Saeko, Kitajima Hidetoshi, Matsubara Tatsuaki, Sunagawa Kenji, Shimokawa Hiroaki, Kimura Akinori, Lee Jong-Young, Murohara Toyoaki, Inoue Ituro, Yokota Mitsuhi |
| Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
| Novel caries loci in children and adults implicated by genome-wide analysis of families. BMC oral health 2018 6 18 (1): 98. Govil Manika, Mukhopadhyay Nandita, Weeks Daniel E, Feingold Eleanor, Shaffer John R, Levy Steven M, Vieira Alexandre R, Slayton Rebecca L, McNeil Daniel W, Weyant Robert J, Crout Richard J, Marazita Mary |
| Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients. Saudi journal of biological sciences 2020 1 27 (1): 271-278. Kamal Naglaa M, Sahly Ahmed N, Banaganapalli Babajan, Rashidi Omran M, Shetty Preetha J, Al-Aama Jumana Y, Shaik Noor A, Elango Ramu, Saadah Omar |
| Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome. Diagnostics (Basel, Switzerland) 2021 4 11 (5): . Bettini Silvia, Bombonato Giancarlo, Dassie Francesca, Favaretto Francesca, Piffer Luca, Bizzotto Paola, Busetto Luca, Chemello Liliana, Senzolo Marco, Merkel Carlo, Angeli Paolo, Vettor Roberto, Milan Gabriella, Maffei Piet |
| Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes 2021 3 12 (2): . Bea-Mascato Brais, Solarat Carlos, Perea-Romero Irene, Jaijo Teresa, Blanco-Kelly Fiona, Millán José M, Ayuso Carmen, Valverde Dia |
| Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome. American journal of medical genetics. Part A 2021 1 185 (3): 732-742. Dassie Francesca, Lorusso Riccardina, Benavides-Varela Silvia, Milan Gabriella, Favaretto Francesca, Callus Edward, Cagnin Stefano, Reggiani Francesco, Minervini Giovanni, Tosatto Silvio, Vettor Roberto, Semenza Carlo, Maffei Piet |
| Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients. Frontiers in genetics 2022 2 13 808919. Zhang Qianwen, Ding Yu, Feng Biyun, Tang Yijun, Chen Yao, Wang Yirou, Chang Guoying, Liu Shijian, Wang Jian, Li Qian, Fu Lijun, Wang Xium |
| Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. Journal of medical genetics 2023 6 . Brais Bea-Mascato, Diana Valver |
| Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2023 1 . Durand Axelle, Winkler Cheryl A, Vince Nicolas, Douillard Venceslas, Geffard Estelle, Binns-Roemer Elizabeth, Ng Derek K, Gourraud Pierre-Antoine, Reidy Kimberley, Warady Bradley, Furth Susan, Kopp Jeffrey B, Kaskel Frederick J, Limou Soph |
| Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand. Animals : an open access journal from MDPI 2024 9 14 (18): . Joonbum Seo, Yvonne Loh, David J Connolly, Virginia Luis Fuentes, Emily Dutton, Hayley Hunt, John S Mund |
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