Results 151 to 160 of about 93,897 (194)

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease

Clinical Genetics, 2020
Dent disease is a rare X‐linked recessive inherited tubular disease. In this multicenter study, the clinical presentation and genetic background of Chinese children with Dent disease are studied to improve the cognition and diagnostic ability of ...
Q. Ye, Q. Shen, Jia Rao, A. Zhang, B. Zheng, Xiaorong Liu, Ying Shen, Zhi Chen, Yubing Wu, L. Hou, S. Jian, M. Wei, Shengming Ma, Shuzhen Sun, Qian Li, X. Dang, Ying Wang, Hong Xu, Jianhua Mao   +18 more
semanticscholar   +1 more source

Dent disease: classification, heterogeneity and diagnosis

World Journal of Pediatrics, 2020
Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life. According to its various genetic basis and to clinical signs and symptoms,
Yan-Yan, Jin, Li-Min, Huang, Xiao-Fang, Quan, Jian-Hua, Mao   +3 more
openaire   +2 more sources

Muscle involvement in Dent disease 2

Pediatric Nephrology, 2014
Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only without genetic tests.
Eujin, Park, Hyun Jin, Choi, Jiwon M, Lee, Yo Han, Ahn, Hee Gyung, Kang, Yoo Mee, Choi, Se Jin, Park, Hee Yeon, Cho, Yong-Hoon, Park, Seung Joo, Lee, Il Soo, Ha, Hae Il, Cheong   +11 more
openaire   +2 more sources

Dent’s disease: clinical features and molecular basis

Pediatric Nephrology, 2010
Dent's disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability.
Félix, Claverie-Martín, Elena, Ramos-Trujillo, Víctor, García-Nieto   +2 more
openaire   +2 more sources

Dent disease patient genome sequencing

2014
one sample whole genome, average depth 30X.
openaire   +1 more source

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Re: Dent Disease

Journal of Urology, 2018
openaire   +2 more sources

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Nature Reviews Nephrology, 2017
M. Matteis, Leopoldo Staiano, F. Emma, O. Devuyst   +3 more
semanticscholar   +1 more source

Dent Disease

2023
openaire   +1 more source

Obesity and adverse breast cancer risk and outcome: Mechanistic insights and strategies for intervention

Ca-A Cancer Journal for Clinicians, 2017
Cynthia Morata-Tarifa, Joyce M Slingerland   +1 more
exaly