Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 104 Records) |
Query Trace: NPHS2[original query] |
---|
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. BMC nephrology 2018 12 19 (1): 382. Li Guo-Min, Cao Qi, Shen Qian, Sun Li, Zhai Yi-Hui, Liu Hai-Mei, An Yu, Xu Ho |
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait. Case reports in genetics 2018 12 2018 6898546. Sambuughin Nyamkhishig, Ren Mingqiang, Capacchione John F, Mungunsukh Ognoon, Chuang Kevin, Horkayne-Szakaly Iren, O'Connor Francis G, Deuster Patricia |
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. Kidney international reports 2018 11 3 (6): 1354-1362. Asharam Kareshma, Bhimma Rajendra, David Victor A, Coovadia Hoosen M, Qulu Wenkosi P, Naicker Thajasvarie, Gillies Christopher E, Vega-Warner Virginia, Johnson Randall C, Limou Sophie, Kopp Jeffrey B, Sampson Mathew, Nelson George W, Winkler Cheryl |
TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran. Molecular biology reports 2019 Sep . Zununi Vahed Sepideh, Moghaddas Sani Hakimeh, Haghi Mehdi, Mohajel Shoja Mohammadali, Ardalan Mohammadre |
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. Annals of clinical and laboratory science 2019 7 49 (3): 330-337. Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw |
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation. Iranian journal of kidney diseases 2019 6 13 (3): 165-172. Shojaei Azadeh, Serajpour Niloofar, Karimi Behnaz, Hooman Nakysa, Hosseini Rozita, Khosravi Pedr |
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome. Pediatric research 2019 Feb . Li Jianguo, Wang Lijun, Wan Ling, Lin Tiantian, Zhao Wentao, Cui Hang, Li Huarong, Cao Li, Wu Jianxin, Zhang Ti |
NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis. Bratislavske lekarske listy 2019 2 120 (2): 102-105. Baylarov R, Baylarova R, Berdeli A, Bayramov R, Haziyev |
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis. Communications biology 2019 11 2 416. Govender Melanie A, Fabian June, Gottlich Errol, Levy Cecil, Moonsamy Glenda, Maher Heather, Winkler Cheryl A, Ramsay Michè |
Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis. Clinical nephrology 2020 Jul . de Almeida Rafael, da Silva William Cardoso, Garbin Henrique Iahnke, Itaquy Thiago Pereira, Dos Santos Pereira Fernanda, Garcia Clotilde Druck, Keitel Elizete, Sales Luiz Vianna Fernanda, Veronese Francisco Veríssi |
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. Journal of clinical medicine 2020 7 9 (6): . Park Eujin, Lee Chung, Kim Nayoung K D, Ahn Yo Han, Park Young Seo, Lee Joo Hoon, Kim Seong Heon, Cho Min Hyun, Cho Heeyeon, Yoo Kee Hwan, Shin Jae Il, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. Journal of genetics 2020 6 99 . Chamgordani Leila Esmaeli, Ebrahimi Nasim, Amirmahani Farzane, Vallian Sad |
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2020 3 31 (1): 144-149. Baylarov Rauf, Senol Ozgur, Atan Merve, Berdeli Af |
NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. Bioscience reports 2020 12 41 (1): . Sun Liping, Zhang Xinzhou, Wang Zh |
Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome. Heliyon 2020 Oct 6 (10): e05317. Jyoti Sharmin Sultana, Islam Farhana, Shrabonee Ishrat Islam, Sultana Taposhi Nahid, Chaity Nusrat Islam, Nahid Noor Ahmed, Islam Md Reazul, Islam Md Saiful, Apu Mohd Nazmul Has |
Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. Open access Macedonian journal of medical sciences 2019 Oct 7 (19): 3145-3148. Zaki Moushira, El-Shaer Shreen, Rady Sahar, El-Salam Manal Abd, Abd-El-Salam Ragaa, Alkashlan Ibrahim Abdelfattah, Saber Mohamed, Mohamed Sanaa, Hassaan Mohamed, Rabie Eman, Amr Khal |
Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. Molecular medicine reports 2020 1 21 (3): 1115-1124. Tang Chunrong, Zhou Daoyuan, Tan Rongshao, Zhong Xiaoshi, Xiao Xiao, Qin Danping, Liu Yun, Hu Jianguang, Liu Y |
Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India. Indian pediatrics 2021 5 58 (5): 445-451. Joshi Aditi, Sinha Aditi, Sharma Aakanksha, Shamim Uzma, Uppilli Bharathram, Sharma Pooja, Zahra Sana, Parveen Shaista, Mathur Aradhana, Chandan Monica, Tewari Prachi, Khandelwal Priyanka, Hari Pankaj, Mukerji Mitali, Faruq Mohammed, Bagga Arvind, |
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 2021 Aug . Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálm |
Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome. Frontiers in medicine 2022 8 9 937122. Zhou Qiongxiu, Weng Qinjie, Zhang Xiaoyan, Liu Yunzi, Tong Jun, Hao Xu, Shi Hao, Shen Pingyan, Ren Hong, Xie Jingyuan, Chen N |
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa. European journal of pediatrics 2022 Oct 181 (10): 3595-3606. Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar |
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study. Journal of pediatric genetics 2022 8 11 (3): 185-191. Singh Akanksha, Singh Ankur, Mishra Om Prakash, Prasad Rajniti, Narayan Gopeshwar, Batra Vineeta V, Tabatabaeifar Mansoureh, Schaefer Fra |
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study. Frontiers in medicine 2022 9 885178. Zhu Xiujuan, Zhang Yanqin, Yu Zihua, Yu Li, Huang Wenyan, Sun Shuzhen, Li Yingjie, Wang Mo, Li Yongzhen, Sun Liangzhong, Yang Qing, Deng Fang, Shao Xiaoshan, Liu Ling, Liu Cuihua, Qin Yuanhan, Feng Shipin, Zhu Hongtao, Yang Fang, Zheng Weimin, Zheng Wanqi, Zhong Rirong, Hou Ling, Mao Jianhua, Wang Fang, Ding J |
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic. Delaware journal of public health 2022 5 7 (5): 24-27. Kirwin Susan M, Robbins Katherine M, Vinette Kathleen M B, Hirata Lee, Gripp Karen W, Funanage Vicky |
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular genetics and genomics : MGG 2022 3 297 (3): 689-698. Thomas Manal M, Ahmed Heba Mostafa, El-Dessouky Sara H, Ramadan Abeer, Botrous Osama Ezzat, Abdel-Hamid Mohamed |
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric nephrology (Berlin, Germany) 2023 9 . Dalia Pantel, Nils D Mertens, Ronen Schneider, Selina Hölzel, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Tze Y Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebran |
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children. Molecular biology reports 2023 4 . Al-Azzawy Mohammed F, Al-Haggar Mohammad, ElSaid Afaf M, El-Khawaga Omali |
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 |
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood. Frontiers in medicine 2024 1 10 1320054. Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudí?ková, Karel Krej?í, Jana Reiterová, Eva Jan?ová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horá?ková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Mac |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: