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在“Elsevier电子期刊”中，命中：24条，耗时：小于0.01 秒

在所有数据库中总计命中：11条

1.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

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.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 Chami¹ ; Heather Main ; Robert McKernan ; Divya Goel ; Uli Schmidt

刊名：Stem Cell Research

出版年：2016

4.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 Chami¹ ; Robert McKernan ; Divya Goel ; Uli Schmidt

刊名：Stem Cell Research

出版年：2016

5.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

6.Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations”: [Neuromuscular Disorders 26/4-5 (2016) 300-308]

刊名：Neuromuscular Disorders

出版年：2016

7.Genetic and epigenetic contributors to FSHD

作者：Lucia Daxinger¹ ; Stephen J Tapscott² ; Silvè ; re M van der Maarel¹ ; ^{maarel@lumc.nl" class="auth_mail" title="E-mail the corresponding author}

刊名：Current Opinion in Genetics & Development

出版年：2015

8.The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

作者：Sabrina Sacconi ; Richard?J.L.F. Lemmers ; Judit Balog ; Patrick?J. van?der?Vliet ; Pauline Lahaut ; Merlijn?P. van?Nieuwenhuizen ; Kirsten?R. Straasheijm ; Rashmie?D. Debipersad ; Marianne Vos-Versteeg ; Leonardo Salviati ; Alberto Casarin ; Elena Pegoraro ; Rabi Tawil ; Egbert Bakker ; Stephen?J. Tapscott ; Claude Desnuelle ; Silv¨¨re?M. van?der?Maarel

刊名：The American Journal of Human Genetics

出版年：2013

9.Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

作者：Satomi Mitsuhashi ; Steven E. Boyden ; Elicia A. Estrella ; Takako I. Jones ; Fedik Rahimov ; Timothy W. Yu ; Basil T. Darras ; Anthony A. Amato ; Rebecca D. Folkerth ; Peter L. Jones ; Louis M. Kunkel ; Peter B. Kang

关键词：Facioscapulohumeral muscular dystrophy 2 ; SMCHD1 ; DUX4

刊名：Neuromuscular Disorders

出版年：December, 2013

10.G.I.1 New advances in facioscapulohumeral dystrophy

作者：S.M. van der Maarel

刊名：Neuromuscular Disorders

出版年：2013

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