Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Syndrome and NPHP1[original query] |
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American journal of human genetics 2004 Jul 75 (1): 82-91. Parisi Melissa A, Bennett Craig L, Eckert Melissa L, Dobyns William B, Gleeson Joseph G, Shaw Dennis W W, McDonald Ruth, Eddy Allison, Chance Phillip F, Glass Ian |
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Human mutation 2005 Apr 25 (4): 411. Hoefele Julia, Sudbrak Ralf, Reinhardt Richard, Lehrack Silvia, Hennig Steffen, Imm Anita, Muerb Ulla, Utsch Boris, Attanasio Massimo, O'Toole John F, Otto Edgar, Hildebrandt Friedhe |
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 |
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, |
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 |
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. Iranian journal of kidney diseases 2018 8 12 (4): 240-242. Hussain Sofia, Akhtar Naureen, Qamar Reem, Khan Naima, Naeem Muhamm |
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 |
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. Journal of medical genetics 2020 12 59 (2): 147-154. Tang Xiaoshan, Liu Cuihua, Liu Xiaorong, Chen Jing, Fan Xiaoyan, Liu Jialu, Ma Duan, Cao Guanghai, Chen Zhi, Xu Daliang, Zhu Ying, Jiang Xiaoyun, Cheng Lizhi, Wu Yubing, Hou Ling, Li Yuhong, Shao Xiaoshan, Zheng Shasha, Zhang Aihua, Zheng Bixia, Jian Shan, Rong Zanhua, Su Qingxiao, Gao Xia, Rao Jia, Shen Qian, Xu Hong, , |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
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- Page last updated:Apr 16, 2024
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