Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: PRX[original query] |
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[Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. Journal of human genetics 2011 May 56 (5): 364-8. Abe Akiko, Numakura Chikahiko, Kijima Kazuki, Hayashi Makiko, Hashimoto Taeko, Hayasaka Kiyos |
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy. Annals of neurology 2014 Nov 76 (5): 727-37. Beutler Andreas S, Kulkarni Amit A, Kanwar Rahul, Klein Christopher J, Therneau Terry M, Qin Rui, Banck Michaela S, Boora Ganesh K, Ruddy Kathryn J, Wu Yanhong, Smalley Regenia L, Cunningham Julie M, Le-Lindqwister Nguyet Anh, Beyerlein Peter, Schroth Gary P, Windebank Anthony J, Züchner Stephan, Loprinzi Charles |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular genetics & genomic medicine 2014 Nov 2 (6): 522-9. DiVincenzo Christina, Elzinga Christopher D, Medeiros Adam C, Karbassi Izabela, Jones Jeremiah R, Evans Matthew C, Braastad Corey D, Bishop Crystal M, Jaremko Malgorzata, Wang Zhenyuan, Liaquat Khalida, Hoffman Carol A, York Michelle D, Batish Sat D, Lupski James R, Higgins Joseph |
Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion.
Scientific reports 2016 6 33240. Einarsdottir Elisabet, Hafrén Lena, Leinonen Eira, Bhutta Mahmood F, Kentala Erna, Kere Juha, Mattila Petri |
Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing. QJM : monthly journal of the Association of Physicians 2016 Apr . Yuan Lamei, Yi Junhui, Lin Qiongfen, Xu Hongbo, Deng Xiong, Xiong Wei, Xiao Jingjing, Jiang Chongyi, Yuan Xinrong, Chen Yong, Deng H |
An Exome-wide Association Study for Type 2 Diabetes-Attributed End-Stage Kidney Disease in African Americans. Kidney international reports 2018 Jul 3 (4): 867-878. Guan Meijian, Keaton Jacob M, Dimitrov Latchezar, Hicks Pamela J, Xu Jianzhao, Palmer Nicholette D, Wilson James G, Freedman Barry I, Bowden Donald W, Ng Maggie C |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes. Journal of the neurological sciences 2020 Jan 411 116687. Le-Rademacher Jennifer G, Lopez Camden L, Kanwar Rahul, Major-Elechi Brittny, Abyzov Alexej, Banck Michaela S, Therneau Terry M, Sloan Jeff A, Loprinzi Charles L, Beutler Andreas |
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turkish neurosurgery 2021 6 31 (6): 888-895. Yalcintepe Sinem, Gurkan Hakan, Dogan Ipek Gungor, Demir Selma, Sag Sebnem Ozemri, Kabayegit Zehra Manav, Atli Emine Ikbal, Atli Engin, Eker Damla, Temel Sehime Guls |
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
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- Page last updated:Apr 22, 2024
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