Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and AHI1[original query] |
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| High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Journal of the American Society of Nephrology : JASN 2007 May 18 (5): 1566-75. Tory Kálmán, Lacoste Tiphanie, Burglen Lydie, Morinière Vincent, Boddaert Nathalie, Macher Marie-Alice, Llanas Brigitte, Nivet Hubert, Bensman Albert, Niaudet Patrick, Antignac Corinne, Salomon Rémi, Saunier Soph |
| Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human molecular genetics 2008 Dec 17 (24): 3887-96. Alvarez Retuerto Ana I, Cantor Rita M, Gleeson Joseph G, Ustaszewska Anna, Schackwitz Wendy S, Pennacchio Len A, Geschwind Daniel |
| Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010 Aug 24 (8): 3066-82. Torri Federica, Akelai Anna, Lupoli Sara, Sironi Manuela, Amann-Zalcenstein Daniela, Fumagalli Matteo, Dal Fiume Chiara, Ben-Asher Edna, Kanyas Kyra, Cagliani Rachele, Cozzi Paolo, Trombetti Gabriele, Strik Lievers Luisa, Salvi Erika, Orro Alessandro, Beckmann Jacques S, Lancet Doron, Kohn Yoav, Milanesi Luciano, Ebstein Richard B, Lerer Bernard, Macciardi Fab |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
| The characterization of Abelson helper integration site-1 in skeletal muscle and its links to the metabolic syndrome. Metabolism: clinical and experimental 2010 1 59 (7): 1057-64. Prior Matthew J, Foletta Victoria C, Jowett Jeremy B, Segal David H, Carless Melanie A, Curran Joanne E, Dyer Tom D, Moses Eric K, McAinch Andrew J, Konstantopoulos Nicky, Bozaoglu Kiymet, Collier Greg R, Cameron-Smith David, Blangero John, Walder Ken |
| Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
| The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia. International journal of molecular sciences 2015 16 (2): 2517-29. Porcelli Stefano, Pae Chi-Un, Han Changsu, Lee Soo-Jung, Patkar Ashwin A, Masand Prakash S, Balzarro Beatrice, Alberti Siegfried, De Ronchi Diana, Serretti Alessand |
| The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults. Multiple sclerosis and related disorders 2018 Jan 19 161-165. Graves Jennifer S, Barcellos Lisa F, Simpson Steve, Belman Anita, Lin Rui, Taylor Bruce V, Ponsonby Anne-Louise, Dwyer Terence, Krupp Lauren, Waubant Emmanuelle, van der Mei Ingrid A |
| Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
| Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. Molecular biology reports 2021 6 48 (6): 5339-5345. Karamzade Arezou, Babaei Meisam, Saberi Mohammad, Golchin Neda, Khalil Nejad Sani Banaei Aysun, Eshaghkhani Yeganeh, Golchehre Zahra, Keramatipour Mohamm |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 22, 2023
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