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内部出版物
在“
Elsevier电子期刊
”中,
命中:
72
条,耗时:小于0.01 秒
1.
Low
D4Z4
copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1
作者:
Hyung Jun Park
a
;
b
;
Ji-Man Hong
b
;
Jung Hwan Lee
b
;
Hyung Seok Lee
b
;
Ha Young Shin
b
;
Seung Min Kim
b
;
Chang-Seok Ki
c
;
Ji Hyun Lee
d
;
Young-Chul Choi
b
;
ycchoi@yuhs.ac" class="auth_mail" title="E-mail the corresponding author
关键词:
Facioscapulohumeral muscular dystrophy
;
D4Z4
repeat
;
Genotype&ndash
;
phenotype relationship
;
Gender difference
刊名:Neuromuscular Disorders
出版年:2015
2.
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
作者:
Kohei Hamanaka
a
;
b
;
Kanako Goto
a
;
Mami Arai
a
;
Koji Nagao
c
;
Chikashi Obuse
c
;
Satoru Noguchi
a
;
d
;
Yukiko K. Hayashi
e
;
Satomi Mitsuhashi
a
;
smitsuhashi@ncnp.go.jp" class="auth_mail" title="E-mail the corresponding author
;
Ichizo Nishino
a
;
d
关键词:
Facioscapulohumeral muscular dystrophy 2
;
Structural maintenance of chromosomes flexible hinge domain containing 1
;
D4Z4
;
DNA methylation
;
Pyrosequence
刊名:Neuromuscular Disorders
出版年:2016
3.
A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)
作者:
Lisa M. Petek
a
;
Amanda M. Rickard
a
;
Christopher Budech
b
;
Sandra L. Poliachik
b
;
Dennis Shaw
b
;
Mark R. Ferguson
b
;
Rabi Tawil
c
;
Seth D. Friedman
b
;
Daniel G. Miller
a
;
dgmiller@uw.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
FSHD
;
Facioscapulohumeral
;
D4Z4
;
DUX4
;
Biomarker
;
Proteomics
;
Muscular dystrophy
;
Creatine kinase
;
Carbonic anhydrase
;
Troponin
刊名:Neuromuscular Disorders
出版年:2016
4.
A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy
作者:
Laura Virginia Gatica
a
;
1
;
Alberto Luis Rosa
a
;
b
;
c
;
alberto_l_rosa@yahoo.com.ar
关键词:
Facioscapulohumeral muscular dystrophy
;
FSHD1
;
FSHD2
;
DUX4
;
SMCHD1
刊名:Neuromuscular Disorders
出版年:2016
5.
Molecular combing compared to Southern blot for measuring
D4Z4
contractions in FSHD
作者:
Jessica Vasale
a
;
Fatih Boyar
b
;
Michael Jocson
a
;
Vladimira Sulcova
b
;
Patricia Chan
b
;
Khalida Liaquat
a
;
Carol Hoffman
a
;
Marc Meservey
a
;
Isabell Chang
a
;
David Tsao
b
;
Kerri Hensley
b
;
Yan Liu
b
;
Renius Owen
b
;
Corey Braastad
a
;
Weimin Sun
a
;
Pierre Walrafen
c
;
Jun Komatsu
c
;
Jia-Chi Wang
b
;
Aaron Bensimon
c
;
Arturo Anguiano
b
;
Malgorzata Jaremko
a
;
Zhenyuan Wang
a
;
Sat Batish
a
;
Charles Strom
b
;
Joseph Higgins
a
;
joseph.j.higgins@questdiagnostics.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Muscular dystrophy
;
Facioscapulohumeral
;
Blotting
;
Southern
;
Electrophoresis
;
Gel
;
Pulsed-field
;
Gene mapping
;
Chromosome mapping
;
In situ hybridization
;
Fluorescence
刊名:Neuromuscular Disorders
出版年:2015
6.
Derivation of FSHD1 affected human embryonic stem cell line Genea050
作者:
Biljana Dumevska
;
1
;
biljana.dumevska@geneabiocells.com" class="auth_mail" title="E-mail the corresponding author
;
Omar Chami
1
;
Heather Main
;
Robert McKernan
;
Divya Goel
;
Uli Schmidt
刊名:Stem Cell Research
出版年:2016
7.
Derivation of FSHD1 affected human embryonic stem cell line Genea096
作者:
Biljana Dumevska
;
biljana.dumevska@geneabiocells.com" class="auth_mail" title="E-mail the corresponding author
;
Julia Schaft
;
Robert McKernan
;
Divya Goel
;
Uli Schmidt
刊名:Stem Cell Research
出版年:2016
8.
Derivation of FSHD1 affected human embryonic stem cell line Genea049
作者:
Biljana Dumevska
;
1
;
biljana.dumevska@geneabiocells.com" class="auth_mail" title="E-mail the corresponding author
;
Omar Chami
1
;
Robert McKernan
;
Divya Goel
;
Uli Schmidt
刊名:Stem Cell Research
出版年:2016
9.
Genetic and epigenetic contributors to FSHD
作者:
Lucia Daxinger
1
;
Stephen J Tapscott
2
;
Silvè
;
re M van der Maarel
1
;
maarel@lumc.nl" class="auth_mail" title="E-mail the corresponding author
刊名:Current Opinion in Genetics & Development
出版年:2015
10.
Evolutionary history of linked
D4Z4
and Beta satellite clusters at the FSHD locus (4q35)
作者:
Marta Giussani
a
;
1
;
marta.giussani@unimi.it
;
Maria Francesca Cardone
b
;
2
;
mariafrancesca.cardone@entecra.it
;
Beatrice Bodega
a
;
3
;
BBodega@Dti.Telethon.it
;
Enrico Ginelli
a
;
enrico.ginelli@unimi.it
;
Raffaella Meneveri
c
;
raffaella.meneveri@unimib.it
关键词:
Primate evolution
;
Chimpanzee
;
Beta satellite
;
D4Z4
;
4q35
;
FSHD
刊名:Genomics
出版年:2012
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