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SpringerLink电子期刊(56)
在“
SpringerLink电子期刊
”中,
命中:
56
条,耗时:小于0.01 秒
在所有数据库中总计命中:
56
条
1.
Phenotypic variability of Dent disease in a large New Zealand kindred
作者:
William Wong
;
Gemma Poke
;
Maria Stack
;
Tonya Kara
;
Chanel Prestidge…
关键词:
Dent disease
;
CLCN5
;
Phenotype genotype
;
Correlation
刊名:Pediatric Nephrology
出版年:2017
2.
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without
CLCN5
mutations
作者:
Franca Anglani
;
Angela D鈥橝ngelo
;
Luisa Maria Bertizzolo
;
Enrica Tosetto…
关键词:
Dent disease
;
CLCN5
gene
;
OCRL gene
;
Calcium phosphate metabolism
;
Nephrolithiasis
;
Chronic kidney disease
刊名:SpringerPlus
出版年:2015
3.
Double Xp11.22 deletion including SHROOM4 and
CLCN5
associated with severe psychomotor retardation and Dent disease
作者:
Narjes Armanet
;
Corinne Metay
;
Sophie Brisset
;
Georges Deschenes…
关键词:
Deletion
;
Xp11.22
;
Array
;
comparative genomic hybridization
;
Renal proximal tubulopathy
;
Dent disease
;
SHROOM4
;
CLCN5
刊名:Molecular Cytogenetics
出版年:2015
4.
Phenotype of dent disease in a cohort of Indian children
作者:
Swati Bhardwaj
;
Ranjeet Thergaonkar
;
Aditi Sinha
;
Pankaj Hari…
关键词:
CLCN5
;
Hypophosphatemic rickets
;
Night blindness
;
Polyuria
刊名:Indian Pediatrics
出版年:2016
5.
Complexity of the 5′UTR region of the
CLCN5
gene: eleven 5′UTR ends are differentially expressed in the human kidney
作者:
Enrica Tosetto
;
Alberto Casarin
;
Leonardo Salviati…
关键词:
Dent disease
;
CLCN5
gene
;
5’UTR isoforms
;
mRNA variant
;
Gene expression
刊名:BMC Medical Genomics
出版年:2014
6.
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
7.
Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease
作者:
Chiara De Mutiis
;
Andrea Pasini
;
Claudio La Scola…
关键词:
Dent disease
;
Low molecular weight proteinuria (LMWP)
;
Hypercalciuria
;
OCRL
;
CLCN5
;
p.Arg318Cys
刊名:Italian Journal of Pediatrics
出版年:2015
8.
A boy with proteinuria and focal global glomerulosclerosis: Answers
作者:
Sidharth Kumar Sethi
;
Edgar A. Otto
;
Sara Ma
;
Rajan Duggal…
关键词:
Dent鈥檚 disease
;
CLCN5
gene
;
Hypercalciuria
刊名:Pediatric Nephrology
出版年:2015
9.
A case of adult Dent disease in Japan with advanced chronic kidney disease
作者:
Ken Saida (1)
Yuji Kamijo (2)
Daisuke Matsuoka (1)
Shunsuke Noda (1)
Yoshihiko Hidaka (1)
Tetsuo Mori (3)
Hisashi Shimojo (4)
Takashi Ehara (4)
Kenichiro Miura (5)
Junko Takita (5) (6)
Takashi Sekine (7)
Takashi Igarashi (5)
Kenichi Koike (1)
关键词:
CLCN5
;
Dent disease
;
Focal segmental glomerulosclerosis
;
Japanese Dent (J
;
Dent)
;
Low
;
molecular
;
weight proteinuria (LMWP)
刊名:CEN Case Reports
出版年:2014
10.
Muscle involvement in Dent disease 2
作者:
Eujin Park (1)
Hyun Jin Choi (1)
Jiwon M. Lee (1)
Yo Han Ahn (1)
Hee Gyung Kang (1) (2)
Yoo Mee Choi (3)
Se Jin Park (4)
Hee Yeon Cho (5)
Yong-Hoon Park (6)
Seung Joo Lee (7)
Il Soo Ha (1) (8)
Hae Il Cheong (1) (2) (8)
关键词:
CLCN5
gene
;
Dent disease 1
;
Dent disease 2
;
Lowe syndrome
;
Muscle enzyme
;
OCRL gene
刊名:Pediatric Nephrology
出版年:2014
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