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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
44
条,耗时:0.0159913 秒
1.
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing
作者:
Tomohiko Yamamura
;
Naoya Morisada
;
Kandai Nozu…
关键词:
Nephronophthisis
;
related ciliopathy
;
Targeted resequencing
;
Next generation sequencing
;
SDCCAG8
;
MKKS
;
WDR35
刊名:Clinical and Experimental Nephrology
出版年:2017
2.
Simultaneous mutations of LAMB2 and
NPHP
1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
作者:
Liru Qiu
;
Jianhua Zhou
关键词:
Congenital nephrotic syndrome
;
Pierson syndrome
;
Juvenile nephronophthisis
;
Next generation sequencing
;
Gene mutation
刊名:BMC Pediatrics
出版年:2016
3.
Nephronophthisis: should we target cysts or fibrosis?
作者:
Gisela G. Slaats
;
Marc R. Lilien
;
Rachel H. Giles
关键词:
Kidney
;
Cysts
;
Fibrosis
;
Paclitaxel
;
Ciliopathy
;
Cilia
;
NPHP
刊名:Pediatric Nephrology
出版年:2016
4.
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans
作者:
Meijian Guan
;
Jun Ma
;
Jacob M. Keaton
;
Latchezar Dimitrov
;
Poorva Mudgal…
刊名:Human Genetics
出版年:2016
5.
Effects of alendronate and vitamin D in patients with normocalcemic primary hyperparathyroidism
作者:
R. Cesareo
;
E. Di Stasio
;
F. Vescini
;
G. Campagna
;
R. Cianni…
关键词:
Alendronate
;
Bone mineral density
;
Bone turnover markers
;
Normocalcemic primary hyperparathyroidism
;
Vitamin D
刊名:Osteoporosis International
出版年:2015
6.
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney
作者:
Jiwon M. Lee
;
Yo Han Ahn
;
Hee Gyung Kang
;
II Soo Ha
;
Kyoungbun Lee…
关键词:
Nephronophthisis 13
;
WDR19 gene
;
Caroli disease
;
Caroli syndrome
;
Ciliopathy
;
Congenital hepatic fibrosis
;
Immunohistochemistry
刊名:Pediatric Nephrology
出版年:2015
7.
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks
作者:
Amy R Barker (4)
Karen S Renzaglia (5)
Kimberley Fry (4)
Helen R Dawe (4)
4. Biosciences
;
College of Life and Environmental Sciences
;
University of Exeter
;
Exeter
;
EX4 4QD
;
UK
5. Department of Plant Biology
;
Southern Illinois University
;
Carbondale
;
IL
;
62901
;
USA
关键词:
(3鈥?0)
;
Ciliopathy
;
Cilia
;
Transition zone
;
Compartmentalisation
;
Permeability
;
MKS
;
NPHP
;
Evolution
刊名:BMC Genomics
出版年:2014
8.
Duplication of the
NPHP
1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series
作者:
Yuka Yasuda (1)
Ryota Hashimoto (1) (2)
Ryoko Fukai (3) (4)
Nobuhiko Okamoto (5)
Yoko Hiraki (6)
Hidenaga Yamamori (1) (7)
Michiko Fujimoto (1)
Kazutaka Ohi (1)
Masako Taniike (2)
Ikuko Mohri (2)
Mitsuko Nakashima (4)
Yoshinori Tsurusaki (4)
Hirotomo Saitsu (4)
Naomichi Matsumoto (4)
Noriko Miyake (4)
Masatoshi Takeda (1)
1. Department of Psychiatry
;
Osaka University Graduate School of Medicine
;
D3
;
2-2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
2. Molecular Research Center for Children鈥檚 Mental Development
;
United Graduate School of Child Development
;
Osaka University
;
D3
;
2-2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
3. Department of Human Genetics
;
Yokohama City University Graduate School of Medicine
;
3-9 Fukuura
;
Kanazawa-ku
;
Yokohama
;
236-0004
;
Japan
4. Department of Neurology and Stroke Medicine
;
Yokohama City University Graduate School of Medicine
;
3-9 Fukuura
;
Kanazawa-ku
;
Yokohama
;
236-0004
;
Japan
5. Division of Medical Genetics
;
Osaka Medical Center and Research Institute for Maternal and Child Health
;
Izumi
;
594-1101
;
Japan
6. Hiroshima Municipal Center for Child Health and Development
;
Hiroshima
;
732-0052
;
Japan
7. Department of Molecular Neuropsychiatry
;
Osaka University Graduate School of Medicine
;
D3
;
2-2
;
Yamadaoka
;
Suita
;
Osaka
;
565-0871
;
Japan
关键词:
Autism spectrum disorder
;
Copy
;
number variants
;
Duplication
;
Nephronophthisis 1 gene
;
Intelligence
刊名:Annals of General Psychiatry
出版年:2014
9.
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous
NPHP
3 mutation
作者:
Ana-Maria Calinescu-Tuleasca (1)
Armand Bottani (2)
Anne-Laure Rougemont (3)
Jacques Birraux (1)
Marie-Claire Gubler (4)
Claude Le Coultre (1)
Pietro Majno (5)
Gilles Mentha (5)
Eric Girardin (6)
Dominique Belli (7)
Barbara E. Wildhaber (1)
关键词:
Caroli disease
;
Cystic renal dysplasia
;
Ciliopathy
;
Combined liver–kidney transplantation
刊名:European Journal of Pediatrics
出版年:2013
10.
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis
作者:
Tamio Yamaguchi (1) (2)
Clara Lysecki (1) (2) (4)
Ashleigh Reid (1) (2) (4)
Shizuko Nagao (3)
Harold M. Aukema (1) (2) (4)
关键词:
Nephronophthisis
;
Polycystic kidney disease
;
Fatty acid
;
Eicosanoid
;
Cyclooxygenase
;
Lipoxygenase
刊名:Lipids
出版年:2014
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