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SpringerLink电子期刊(15)

在“SpringerLink电子期刊”中，命中：15条，耗时：0.0759605 秒

在所有数据库中总计命中：32条

1. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome

作者： Yan Gao ; Fang Jiang ; Zhi-Ying Ou

关键词：Lowe syndrome ; mutation ; OCRL gene

刊名：World Journal of Pediatrics

出版年：2016

2. Novel Mutation of OCRL1 in Lowe Syndrome

作者：Ting Liu (1)
Zhihui Yue (1)
Haiyan Wang (1) (2)
Huajuan Tong (1)
Liangzhong Sun (1)

1. Department of Pediatrics ; The First Affiliated Hospital ; Sun Yat-sen University ; Guangzhou ; 510080 ; People鈥檚 Republic of China
2. Department of Pediatrics ; Sun Yat-sen Memorial Hospital ; Sun Yat-sen University ; Guangzhou ; 510120 ; People鈥檚 Republic of China

关键词：OCRL1 ; Lowe syndrome ; Congenital cataracts ; Renal tubular acidosis

刊名：The Indian Journal of Pediatrics

出版年：2015

3. A novel CLCN5 mutation in a Chinese boy with Dent’s disease

作者：Li-Na Ji (1)
Chao-Ying Chen (1)
Jing-Jing Wang (1)
Li Cao (1)

关键词：CLCN5 ; Dent’s disease ; gene mutation ; hypercalciuria ; proteinuria

刊名：World Journal of Pediatrics

出版年：2014

4. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome

作者：Ramón Peces (1)
Carlos Peces (2)
Erika de Sousa (1)
Cristina Vega (1)
Rafael Selgas (1)
Julián Nevado (3)

关键词：Cataracts ; Exonic deletion ; Low molecular weight proteinuria ; Mental retardation ; Proximal tubulopathy

刊名：International Urology and Nephrology

出版年：2013

5.Locus heterogeneity of Dent¡¯s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

作者：Enrica Tosetto ; Maria Addis ; Gianluca Caridi ; Cristiana Meloni ; Francesco Emma ; Gianluca Vergine ; Gilda Stringini ; Teresa Papalia ; Giancarlo Barbano and Gian Marco Ghiggeri ; et al.

关键词：Dent’ ; s disease 2 ; Genotype ; phenotype correlation ; Lowe syndrome ; OCRL1 mutations ; TMEM27 gene

刊名：Pediatric Nephrology

出版年：2009

6. OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

作者：Vladimir J. Lozanovski (1) (5)
N. Ristoska-Bojkovska (2)
P. Korneti (3)
Z. Gucev (4)
V. Tasic (2)

关键词：cataracts ; Dent disease ; Lowe syndrome ; OCRL1 ; CLCN5

刊名：World Journal of Pediatrics

出版年：2011

7.Mutations in OCRL1 gene in Indian children with Lowe syndrome

作者：Sidharth Kumar Sethi ; Arvind Bagga ; Ashima Gulati ; Pankaj Hari ; Neerja Gupta and Joel Lunardi

关键词：Oculocerebrorenal syndrome ; OCRL1 gene ; Renal tubular acidosis

刊名：Clinical and Experimental Nephrology

出版年：2008

8. Renal manifestations of Dent disease and Lowe syndrome

作者： Hee Yeon Cho ; Bum Hee Lee ; Hyun Jin Choi ; Il Soo Ha ; Yong Choi and Hae Il Cheong

关键词：Dent disease ; Lowe syndrome ; CLCN5 gene ; OCRL1 gene ; Genetic heterogeneity

刊名：Pediatric Nephrology

出版年：2008

9.Renal manifestations of Dent disease and Lowe syndrome

作者：Hee Yeon Cho ; Bum Hee Lee ; Hyun Jin Choi ; Il Soo Ha ; Yong Choi and Hae Il Cheong

关键词：Dent disease ; Lowe syndrome ; CLCN5 gene ; OCRL1 gene ; Genetic heterogeneity

刊名：Pediatric Nephrology

出版年：2008

10. Dent's disease

作者：Olivier Devuyst (1)
Rajesh V Thakker (2)

刊名：Orphanet Journal of Rare Diseases

出版年：2010

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