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内部出版物
在“
Elsevier电子期刊
”中,
命中:
20
条,耗时:小于0.01 秒
1.
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the
SLC3A1
and SLC7A9 genes in a cohort of 172 cystinuric Italian patients
作者:
Luigi Bisceglia
;
Lucia Fischetti
;
Patrizia De Bonis
;
Orazio Palumbo
;
Bartolomeo Augello
;
Pietro Stanziale
;
Massimo Carella
;
Leopoldo Zelante
关键词:
Cystinuria
;
MLPA analysis
;
Large rearrangements
;
SLC3A1
;
SLC7A9
刊名:Molecular Genetics and Metabolism
出版年:2010
2.
2p21 Deletions in hypotonia-cystinuria syndrome
作者:
Thomas Eggermann
;
Sabrina Spengler
;
Andreas Venghaus
;
Bernd Denecke
;
Klaus Zerres
;
Michael Baudis
;
Regina Ensenauer
关键词:
Hypotonia
;
Cystinuria syndrome
;
SLC3A1
;
PREPL
;
Compound heterozygous deletions
刊名:European Journal of Medical Genetics
出版年:2012
3.
Cystinuria: Current Diagnosis and Management
作者:
Panagiotis Saravakos
a
;
psaravakos@yahoo.com" class="auth_mail
;
Vasiliki Kokkinou
b
;
Evangelos Giannatos
b
刊名:Urology
出版年:April, 2014
4.
Two novel deletions in hypotonia-cystinuria syndrome
作者:
Luc Ré
;
gal
a
;
b
;
Luc.Regal@uzleuven.be
;
Halil Ibrahim Aydin
c
;
Anne-Marie Dieltjens
d
;
Hilde Van Esch
e
;
Inge Francois
f
;
Ilyas Okur
c
;
Cengiz Zeybek
g
;
Sandra Meulemans
a
;
Christine Van Mol
d
;
Lore Van Bruwaene
d
;
Siao-Hann Then
a
;
Jaak Jaeken
b
;
John Creemers
a
关键词:
Hypotonia&ndash
;
cystinuria syndrome
;
PREPL
;
Cystinuria
刊名:Molecular Genetics and Metabolism
出版年:2012
5.
An overview of
SLC3A1
作者:
Anthoula Chatzikyriakidou
;
Eirini Louizou
;
George V.Z. Dedousis
;
Luigi Bisceglia
;
Helen Michelakakis
;
Ioannis Georgiou
关键词:
Cystinuria
;
SLC3A1
;
SLC7A9
;
Mutation
;
Greece
刊名:Molecular Genetics and Metabolism
出版年:2008
6.
Slc3a1
-knockout mouse as a natural model of bladder outlet obstruction
作者:
Philip T. Zhao
;
Dohyoon Cha
;
Michael May
;
Joseph G. Barone
;
Andrew P. Evan
;
Sharon Bledsoe
;
Jay A. Tischfield
;
Amrik Sahota
刊名:Journal of the American College of Surgeons
出版年:2009
7.
Identification of novel cystinuria mutations in pediatric patients
作者:
Eva Brauers
;
Kamil Hozyasz
;
Bozena Golabek
;
Malgorzata Slowik
;
Christa Schmidt
;
Udo Vester
;
Klaus Zerres
;
Thomas Eggermann
关键词:
Cystinuria
;
Pediatric patients
;
SLC3A1
;
SLC7A9
;
Mutations
刊名:Journal of Pediatric Urology
出版年:2006
8.
Variaciones en el gen SLC7A9: impacto de trece mutaciones frecuentes en la etiolog¨ªa de la cistinuria en poblaci¨®n mediterr¨¢nea espa?ola
作者:
Francesc Francé
;
s
a
;
Olga Portolé
;
s
a
;
Dolores Corella
a
;
José
;
V. Sorlí
;
a
;
b
;
Antonio Sabater
a
;
Paula Carrasco
a
;
Marisa Guillé
;
n
a
;
marisa.guillen@uv.es
关键词:
Cistinuria
;
Gen SLC7A9
;
Gen
SLC3A1
;
Mutaciones
;
Aminoá
;
cidos dibá
;
sicosen orina
;
Cá
;
lculos renales
刊名:Medicina Cl¨ªnica
出版年:2006
9.
Cystinuria
作者:
Aditya Mattoo
;
MD
?/sup>
;
David S. Goldfarb
;
MD
?/sup>
;
&dagger
;
;
&Dagger
;
;
david.goldfarb@va.gov
关键词:
Renal aminoaciduria
;
cystinuria
;
D-penicillamine
;
renal tubular transport
;
inborn errors
;
tiopronin
;
urolithiasis
刊名:Seminars in Nephrology
出版年:2008
10.
The 2p21 deletion syndrome: Characterization of the transcription content
作者:
Parvari
;
Ruti
;
Gonen
;
Yael
;
Alshafee
;
Ismael
;
Buriakovsky
;
Sophia
;
Regev
;
Kfir
;
Hershkovitz
;
Eli
关键词:
Transcription
;
Splice variants
;
2p21 deletion
;
2p16 deletion
;
SLC3A1
;
PPM1B
;
PREPL
;
C2orf34
刊名:Genomics
出版年:2005
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