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知网期刊论文(39)
在“
Elsevier电子期刊
”中,
命中:
44
条,耗时:小于0.01 秒
在所有数据库中总计命中:
75
条
1.
Functional alterations due to amino acid changes and evolutionary comparative analysis of
ARPKD
and ADPKD genes
作者:
Burhan M. Edrees
a
;
g
;
1
;
Mohammad Athar
a
;
b
;
1
;
mabedar@uqu.edu.sa
;
Zainularifeen Abduljaleel
a
;
b
;
zaabduljaleel@uqu.edu.sa
;
Faisal A Al-Allaf
a
;
b
;
c
;
1
;
fallaf@uqu.edu.sa
;
Mohiuddin M. Taher
a
;
b
;
Wajahatullah Khan
d
;
Abdellatif Bouazzaoui
a
;
b
;
Naffaa Al-Harbi
e
;
Ramzia Safar
f
;
Howaida Al-Edressi
f
;
Khawala Alansary
g
;
Abulkareem Anazi
g
;
Naji Altayeb
g
;
Muawia A. Ahmed
h
关键词:
Polycystic kidney and hepatic disease 1 (PKHD1)
;
Autosomal recessive polycystic kidney disease (
ARPKD
)
;
Next generation sequencing (NGS)
;
Phylogenetic
;
Pathogenicity prediction
刊名:Genomics Data
出版年:2016
2.
Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease
作者:
Katherine M. Dell
;
MD
1
;
Katherine.Dell@case.edu" class="auth_mail" title="E-mail the corresponding author
;
Matthew Matheson
;
MS
2
;
Erum A. Hartung
;
MD
3
;
Bradley A. Warady
;
MD
4
;
Susan L. Furth
;
MD
;
PhD
3
;
on behalf of the Chronic Kidney Disease in Children (CKiD) Study
&lowast
;
;
Alvaro Muñ
;
oz
;
PhD
;
Allison Dart
;
MD
;
MSc
;
FRCPC
;
Larry Greenbaum
;
MD
;
PhD
;
Jens Goebel
;
MD
;
Mark Mitsnefes
;
MD
;
Joseph Flynn
;
MD
;
Craig Wong
;
MD
;
Sahar Fathallah
;
MD
;
Isidro Salusky
;
MD
;
Ora Yadin
;
MD
;
Bruce Morgenstern
;
MD
;
Tom Blydt-Hansen
;
MD
;
FRCPC
;
Keefe Davis
;
MD
;
Cynthia Pan
;
MD
;
Amira Al-Uzri
;
MD
;
Randall Jenkins
;
MD
;
Anthony Portale
;
MD
;
Mouin Seikaly
;
MD
;
Martin Turman
;
MD
;
PhD
;
Cynthia Wong
;
MD
;
Steven Alexander
;
MD
;
Colleen Hastings
;
MD
;
Randall Jenkins
;
MD
;
Nancy Rodig
;
MD
;
William Harmon
;
MD
;
Sharon Bartosh
;
MD
;
Nadine Benador
;
MD
;
Robert Mak
;
MD
;
PhD
;
Ellen Wood
;
MD
;
Randall Jenkins
;
MD
;
Gary Lerner
;
MD
;
Susan Massengill
;
MD
;
Guillermo Hidalgo
;
MD
;
Meredith Atkinson
;
MD
;
Debbie Gipson
;
MD
;
Poyyapakkam Srivaths
;
MD
;
Joshua Samuels
;
MD
;
Frederick Kaskel
;
MD
;
PhD
;
Debora Mattosian
;
MD
;
Yi Cai
;
MD
;
Sharon Andreoli
;
MD
;
PhD
;
Jeffrey Saland
;
MD
;
Hiren Patel
;
MD
;
Victoria Norwood
;
MD
;
Rulan Parekh
;
MD
;
Lisa Robinson
;
MD
;
Susan Mendley
;
MD
;
Marc Lande
;
MD
;
George Schwartz
;
MD
;
Patrick Brophy
;
MD
;
Eunice John
;
MD
;
Kiran Upadhyay
;
MD
;
Maria Ferris
;
MD
;
Tej Matoo
;
MD
;
Juan Kupferman
;
MD
;
Lynne Weiss
;
MD
;
Craig Langman
;
MD
;
Patricia Seo-Mayer
;
MD
;
Kanwal Kher
;
MD
;
Dmitry Samsonov
;
MD
关键词:
A/H/D
;
Aplastic/hypoplastic/dysplastic disorder
;
ACEI
;
Angiotensin-converting enzyme inhibitor
;
ARPKD
;
Autosomal recessive polycystic kidney disease
;
CKD
;
Chronic kidney disease
;
CKiD
;
Chronic Kidney Disease in Children
;
CT
;
Collecting tubule
;
eGFR
;
Estimated glomerular filtration rate
;
GFR
;
Glomerular filtration rate
;
HTN
;
Hypertension
;
iGFR
;
GFR with the use of iohexol clearance
;
LVH
;
Left ventricular hypertrophy
;
OU
;
Obstructive uropathy
;
UPC
;
Urine protein to creatinine ratio
刊名:The Journal of Pediatrics
出版年:2016
3.
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association−European Dialysis and Transplant (ESPN/ERA-EDTA) Registry
作者:
Djalila Mekahli
;
MD
;
PhD
1
;
2
;
Karlijn J. van Stralen
;
PhD
3
;
Marjolein Bonthuis
;
PhD
3
;
m.bonthuis@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author
;
Kitty J. Jager
;
MD
;
PhD
3
;
Ayşe Balat
;
MD
4
;
Elisa Benetti
;
MD
5
;
Nathalie Godefroid
;
MD
6
;
Vidar O. Edvardsson
;
MD
7
;
8
;
James G. Heaf
;
MD
;
DMSc
9
;
Augustina Jankauskiene
;
MD
10
;
Larissa Kerecuk
;
MBBS
;
BSc
;
MRCPCH
;
FRCPCH
11
;
Svetlana Marinova
;
MD
12
;
Flora Puteo
;
MD
13
;
Tomas Seeman
;
MD
;
PhD
14
;
Aleksandra Zurowska
;
MD
;
PhD
15
;
Jacques Pirenne
;
MD
;
PhD
16
;
Franz Schaefer
;
MD
17
;
Jaap W. Groothoff
;
MD
;
PhD
18
;
on behalf of the ESPN/ERA-EDTA Registry
&lowast
;
;
E. Levtchenko
;
D. Haffner
;
A. Bjerre
;
Z. Massy
;
D. Shtiza
;
R. Kramar
;
R. Oberbauer
;
S. Baiko
;
A. Sukalo
;
K. van Hoeck
;
F. Collart
;
J.M. des Grottes
;
D. Pokrajac
;
D. Roussinov
;
D. Batinić
;
M. Lemac
;
J. Slavicek
;
T. Seeman
;
K. Vondrak
;
J.G. Heaf
;
U. Toots
;
P. Finne
;
C. Grö
;
nhagen-Riska
;
C. Couchoud
;
M Lasalle
;
E Sahpazova
;
N Abazi
;
N Ristoka Bojkovska
;
G von Gersdorff
;
C Scholz
;
B Tö
;
nshoff
;
K Krupka
;
B Hö
;
cker
;
L Pape
;
N Afentakis
;
A Kapogiannis
;
N Printza
;
G Reusz
;
Cs Berecki
;
A Szabó
;
T Szabó
;
Z.S. Gyö
;
rke
;
E. Kis
;
R. Palsson
;
V. Edvardsson
;
B. Gianoglio
;
S. Maringhini
;
C. Pecoraro
;
S. Picca
;
S. Testa
;
E. Vidal
;
E. Verrina
;
A. Jankauskiene
;
B. Pundziene
;
V. Said-Conti
;
S. Gatcan
;
O. Berbeca
;
N. Zaikova
;
S. Pavićević
;
T. Leivestad
;
A. Zurowska
;
I. Zagozdzon
;
C. Mota
;
M. Almeida
;
C. Afonso
;
G. Mircescu
;
L. Garneata
;
E.A. Molchanova
;
N.A. Tomilina
;
B.T. Bikbov
;
M. Kostic
;
A. Peco-Antic
;
B. Spasojevic-Dimitrijeva
;
G. Milosevski-Lomic
;
D. Paripovic
;
S. Puric
;
D. Kruscic
;
L. Podracka
;
G. Kolvek
;
J. Buturovic-Ponikvar
;
G. Novljan
;
N. Battelino
;
A. Alonso Melgar
;
S. Schö
n ;
K.G. Prü
;
tz
;
L. Backmä
n ;
M. Stendahl
;
M. Evans
;
B. Rippe
;
C.E. Kuenhi
;
E. Maurer
;
G.F. Laube
;
S. Tschumi
;
P. Parvex
;
A. Hoitsma
;
A. Hemke
;
R. Topaloglu
;
A. Duzova
;
D. Ivanov
;
R. Pruthi
;
F. Braddon
;
S. Mannings
;
A. Cassula
;
M.D. Sinha
关键词:
Autosomal recessive polycystic kidney disease (
ARPKD
)
;
children
;
adolescents
;
young adults
;
kidney transplantation
;
combined liver-kidney transplantation
;
allograft survival
;
patient survival
;
mortality
;
renal replacement therapy
;
pediatric
;
ESPN/ERA-EDTA Registry
刊名:American Journal of Kidney Diseases
出版年:2016
4.
An Ashkenazi founder mutation in the PKHD1 gene
作者:
Adina Quint
a
;
Michal Sagi
a
;
Shai Carmi
b
;
Hagit Daum
a
;
Michal Macarov
a
;
Ziva Ben Neriah
a
;
Vardiela Meiner
a
;
Orly Elpeleg
a
;
Israela Lerer
a
;
lereris@hadassah.org.il" class="auth_mail" title="E-mail the corresponding author
关键词:
ARPKD
;
Ashkenazi
;
Founder mutation
;
PKHD1
;
c.3761_3762delCCinsG
刊名:European Journal of Medical Genetics
出版年:2016
5.
Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease
作者:
Burhan M. Edrees
a
;
g
;
1
;
Mohammad Athar
a
;
b
;
1
;
athar80@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Faisal A. Al-Allaf
a
;
b
;
c
;
1
;
faallaf@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author
;
Mohiuddin M. Taher
a
;
b
;
Wajahatullah Khan
d
;
Abdellatif Bouazzaoui
a
;
b
;
Naffaa Al-Harbi
e
;
Ramzia Safar
f
;
Howaida Al-Edressi
f
;
Khawala Alansary
g
;
Abulkareem Anazi
g
;
Naji Altayeb
g
;
Muawia A. Ahmed
h
;
Zainularifeen Abduljaleel
a
;
b
;
1
;
zainulbio@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
zaabduljaleel@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author
关键词:
ARPKD
;
autosomal recessive polycystic kidney disease
;
ADPKD
;
Autosomal Dominant Polycystic Kidney Disease
;
nsSNPs
;
non-synonymous SNPs
;
SIFT
;
Sorting Intolerant From Tolerant
;
PolyPhen2
;
Polymorphism Phenotyping
;
NGS
;
Next generation sequencing
;
ISP
;
Ion Sphere Particles
;
BAM
;
binary alignment mapping
;
hg19
;
reference genome
;
BWA
;
Burrows-Wheeler Aligner
;
SAM
;
sequence alignment mapping
;
PCR
;
polymerase chain reaction
;
SOAP
;
Short Oligonucleotide Analysis Package
;
GO
;
Gene-Ontology
刊名:Gene
出版年:2016
6.
MicroRNAs in cholangiopathies: Potential diagnostic and therapeutic tools
作者:
Aitor Esparza-Baquer
a
;
1
;
Ibone Labiano
a
;
1
;
Luis Bujanda
a
;
b
;
Marí
;
a J. Perugorria
a
;
b
;
c
;
Jesú
;
s M. Banales
a
;
b
;
c
;
jesus.banales@biodonostia.org" class="auth_mail" title="E-mail the corresponding author
关键词:
ADPKD
;
autosomal dominant polycystic kidney disease
;
ADPLD
;
autosomal dominant polycystic liver disease
;
AE2
;
Na+-independent Cl&minus
;
/HCO3&minus
;
exchanger 2
;
Akt
;
protein kinase B
;
ALP
;
alkaline phosphatase
;
AMAs
;
anti-mitochondrial antibodies
;
ANAs
;
anti-nuclear antibodies
;
ARPKD
;
autosomal recessive polycystic kidney disease
;
BA
;
biliary atresia
;
CA19-9
;
carbohydrate antigen 19-9
;
CCA
;
cholangiocarcinoma
;
Cdc25A
;
cell division cycle 25 homolog A
;
CEA
;
carcinoembryonic antigen
;
c-Myc
;
Myc pr
刊名:Clinics and Research in Hepatology and Gastroenterology
出版年:2016
7.
In utero MRI diagnosis of fetal malformations in oligohydramnios pregnancies
作者:
Ahmed Hesham Said
a
;
heshamsaeed@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Eman El-Kattan
b
;
emyelkattan@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Ahmed K. Abdel-Hakeem
c
;
ahmedkotbobgyn@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Sahar Saleem
d
;
saharsaleem1@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Abd
;
abdominal
;
ACC
;
agenesis of corpus callosum
;
ARPKD
;
autosomal recessive polycystic kidney
;
bilat
;
bilateral
;
BV
;
born viable
;
CH
;
cerebellar hypoplasia
;
CMV
;
cytomegalovirus
;
CT
;
computed tomography
;
DWM
;
Dandy-Walker malformation
;
GA
;
gestational age
;
JSRD
;
Joubert syndrome and related cerebellar disorders
;
L
;
left
;
LH
;
left heart
;
MCDK
;
multi-cystic dysplastic kidney
;
MKS
;
Meckel Gruber syndrome
;
MMH
;
megacystis microcolon hypoperistalsis
;
MRI
;
magnetic resonance imaging
;
MRU
;
magnetic re
刊名:The Egyptian Journal of Radiology and Nuclear Medicine
出版年:2016
8.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis
作者:
Tassos Grammatikopoulos
1
;
2
;
t.grammatikopoulos@nhs.net" class="auth_mail" title="E-mail the corresponding author
;
Melissa Sambrotta
2
;
Sandra Strautnieks
3
;
Pierre Foskett
3
;
A.S. Knisely
3
;
&dagger
;
;
Bart Wagner
4
;
Maesha Deheragoda
3
;
Chris Starling
3
;
Giorgina Mieli-Vergani
1
;
2
;
Joshua Smith
5
;
University of Washington Center for Mendelian Genomics
5
关键词:
ADPKD
;
autosomal dominant polycystic kidney disease
;
ARPKD
;
autosomal recessive polycystic kidney disease
;
ACALT
;
acetylated alpha-tubulin
;
BA
;
biliary atresia
;
Ca2+
;
calcium
;
CHF
;
congenital hepatic fibrosis
;
DCDC2
;
doublecortin domain containing protein 2
;
DCX
;
doublecortin gene family
;
ERCP
;
endoscopic retrograde cholangiopancreatography
;
ERK
;
extracellular signal-regulated kinase
;
GGT
;
γ-glutamyltransferase
;
IFT
;
intraflagellary transport system
;
KCH
;
King&rsquo
;
s College Hospital
;
LT
;
liver
刊名:Journal of Hepatology
出版年:2016
9.
Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease
作者:
Rebecca Cooksey
;
Mark N. Woodward
;
mark.woodward@mac.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Autosomal recessive polycystic kidney disease
;
Retroperitoneal
;
Nephrectomy
刊名:Journal of Pediatric Urology
出版年:2015
10.
Cystogenesis in
ARPKD
results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys
作者:
Bo Hu
;
Xiusheng He
;
Ao Li
;
Qingchao Qiu
;
Cunxi Li
;
Dan Liang
;
Ping Zhao
;
Jie Ma
;
Robert J. Coffey
;
Qimin Zhan
;
Guanqing Wu
关键词:
Pkhd1
;
Fibrocystin
;
ARPKD
;
Apoptosis
;
Proliferation
刊名:Experimental Cell Research
出版年:2011
1
2
3
4
5
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