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Springer电子图书(2)
CNKI会议论文(1)
CNKI学位论文(33)
知网期刊论文(39)
在“
SpringerLink电子期刊
”中,
命中:
58
条,耗时:小于0.01 秒
在所有数据库中总计命中:
75
条
1.
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with
ARPKD
作者:
Lindsay Lambie
;
Rasheda Amin
;
Fahmida Essop
;
Avital Cnaan…
关键词:
Autosomal recessive polycystic kidney disease
;
ARPKD
;
PKHD1
;
Afrikaner population
;
Founder mutation
刊名:Pediatric Nephrology
出版年:2015
2.
Rationale, design and objectives of ARegPKD, a European
ARPKD
registry study
作者:
Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group
1. Department of Pediatrics
;
University Hospital of Cologne
;
Kerpener Str. 62
;
50937
;
Cologne
;
Germany
2. Department of Pediatrics
;
University Hospital Bonn
;
Adenauerallee 119
;
53113
;
Bonn
;
Germany
3. Department of Pediatric Nephrology
;
University Hospital Vall d鈥橦ebron
;
Pg/Vall d鈥?Hebron 119-129
;
08034
;
Barcelona
;
Spain
4. Bioscientia Center for Human Genetics
;
Konrad-Adenauer-Stra脽e 17
;
55218
;
Ingelheim
;
Germany
5. Renal Division
;
Department of Medicine
;
University Freiburg Medical Center
;
Hugstetter Stra脽e 55
;
79106
;
Freiburg
;
Germany
6. Institute of Pathology
;
University Hospital of Cologne
;
Kerpener Str. 62
;
50937
;
Cologne
;
Germany
7. Division of Pediatric Nephrology
;
University Children鈥檚 Hospital Heidelberg
;
Im Neuenheimer Feld 430
;
69120
;
Heidelberg
;
Germany
8. Department of Pediatrics
;
Division of Pediatric Nephrology
;
Hacettepe University Faculty of Medicine
;
Sihhiye
;
06100
;
Ankara
;
Turkey
9. Department of Pediatric Kidney
;
Liver and Metabolic Diseases
;
Hannover Medical School
;
Carl-Neuberg-Strasse 1
;
30625
;
Hannover
;
Germany
10. Hannover Unified Biobank
;
Hannover Medical School
;
Carl-Neuberg-Strasse 1
;
30625
;
Hannover
;
Germany
11. Institute for Human Genetics
;
Hannover Medical School
;
Carl-Neuberg-Strasse 1
;
30625
;
Hannover
;
Germany
12. Vilnius University Hospital
;
Center for Pediatrics
;
Santariskiu
;
08406
;
Vilnius
;
Lithuania
13. Department of General Pediatrics
;
University Hospital M眉nster
;
Waldeyerstr. 22
;
48149
;
Muenster
;
Germany
14. The Children鈥檚 Memorial Health Institute
;
Al. Dzieci Polskich 20
;
04-730
;
Warsaw
;
Poland
15. Department of Pediatric Nephrology
;
University Hospitals Leuven
;
Herestrtaat 49
;
3000
;
Leuven
;
Belgium
16. Service de N茅phrologie P茅diatrique
;
Hospices Civils de Lyon
;
Universit茅 de Lyon
;
H么pital Femme M猫re Enfant
;
69677
;
Bron
;
France
17. Institute of Medical Biometry and Informatics
;
University of Heidelberg
;
Im Neuenheimer Feld 305
;
69120
;
Heidelberg
;
Germany
18. Pediatric Nephrology Unit
;
Fondazione IRCCS Ca Granda Ospedale Maggiore Polic
;
Via della Commenda 9
;
20122
;
Milano
;
Italy
19. Department of Medical Biology
;
Center for Biobanking and Genomics
;
Hacettepe University
;
Ankara
;
Turkey
20. Institute of Human Genetics
;
RWTH University Hospital Aachen
;
Pauwelsstrasse 30
;
52074
;
Aachen
;
Germany
21. Center for Molecular Medicine
;
University Hospital of Cologne
;
Robert-Koch-Str. 21
;
50931
;
Cologne
;
Germany
22. Nephrology Research Laboratory
;
Department II of Internal Medicine
;
University Hospital of Cologne
;
CECAD Building
;
Joseph-Stelzmann-Str. 26
;
50931
;
Cologne
;
Germany
关键词:
ARPKD
;
Ciliopathy
;
PKHD1
;
Polycystic kidney disease
;
Congenital hepatic fibrosis
刊名:BMC Nephrology
出版年:2015
3.
Genetic analysis of the
PKHD1
gene with long-rang PCR sequencing
作者:
Yong-qing Tong 童永清
;
Bei Liu 刘 蓓
…
关键词:
autosomal recessive polycystic kidney disease
;
PKHD1
;
long
;
range PCR
;
genetic analysis
刊名:Journal of Huazhong University of Science and Technology [Medical Sciences]
出版年:2016
4.
Pregnancy in autosomal recessive polycystic kidney disease
作者:
Nicole Banks
;
Joy Bryant
;
Roxanne Fischer…
关键词:
Autosomal recessive polycystic kidney disease (
ARPKD
)
;
Renal disease and pregnancy
;
Liver disease and pregnancy
;
Ciliopathy
刊名:Archives of Gynecology and Obstetrics
出版年:2015
5.
Clinical manifestations of autosomal recessive polycystic kidney disease (
ARPKD
): kidney-related and non-kidney-related phenotypes
作者:
Rainer Büscher
;
Anja K. Büscher
;
Stefanie Weber
;
Julia Mohr…
关键词:
ARPKD
;
Extrarenal manifestation
;
Children
;
Hepatic fibrosis
;
Portal hypertension
;
Caroli’s syndrome
刊名:Pediatric Nephrology
出版年:2014
6.
ARPKD
and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
作者:
Carsten Bergmann (1) (2)
关键词:
Polycystic kidney disease (ADPKD/
ARPKD
)
;
Ciliopathies
;
HNF1?
;
Nephronophthisis
;
Bardet–Biedl syndrome
;
Joubert syndrome and related disorders
;
Next
;
generation sequencing
刊名:Pediatric Nephrology
出版年:2015
7.
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
作者:
Lena Obeidova
;
Tomas Seeman
;
Veronika Elisakova
;
Jana Reiterova…
关键词:
Autosomal recessive polycystic kidney disease
;
ARPKD
;
PKHD1
;
Mutation analysis
;
Next
;
generation sequencing
刊名:BMC Medical Genetics
出版年:2015
8.
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
作者:
Jayanthi Chandar
;
Jennifer Garcia
;
Lydia Jorge
;
Akin Tekin
关键词:
ARPKD
;
Combined liver kidney transplant
;
Children
;
Congenital hepatic fibrosis
刊名:Pediatric Nephrology
出版年:2015
9.
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease
作者:
Jun Miyazaki
;
Mayuko Ito
;
Haruki Nishizawa
;
Takema Kato…
关键词:
ARPKD
;
Prenatal diagnosis
;
Target exome
;
PKHD1
;
Duplication
刊名:BMC Medical Genetics
出版年:2015
10.
Rationale for early treatment of polycystic kidney disease
作者:
Jared J. Grantham
关键词:
Hereditary
;
Polycystin
;
Renal insufficiency
;
Cyclic AMP
;
Kidney volume
;
Nephron obstruction
;
Ciliopathy
刊名:Pediatric Nephrology
出版年:2015
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