Results 121 to 130 of about 5,041 (194)

A Novel Coincidence: Essential Thrombocythemia with Facioscapulohumeral Muscular Dystrophy

Turkish Journal of Hematology, 2020
Ceren Hangül, Orhan Kemal Yücel, Aslı Toylu, Hilmi Uysal, Sibel Berker Karaüzüm   +4 more
doaj   +1 more source

Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Xu Y, Wang J, Chen Y, Zeng Y, Wang Q, Fan H, Feng S, Huang X, Luo X, Pan J, Wang J, Guo J, Li R, Lu B, Zhou C, Fei J, Xu Y.   +16 more
europepmc   +1 more source

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. [PDF]

PeerJ
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z.   +7 more
europepmc   +1 more source

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End. [PDF]

Genome Res
Xiao LC, Semwal A, St John B, Zeglinski K, Su S, Lancaster J, Xue S, Reversade B, Ritchie ME, Magdinier F, Blewitt ME, Gouil Q.   +11 more
europepmc   +1 more source

Development of <i>in vitro</i> potency assays for AAV-based gene silencing therapies targeting FSHD and CMT1A. [PDF]

Mol Ther Adv
McCoy J, Wallace LM, Zhou B, Price B, Salzman R, Harper SQ.   +5 more
europepmc   +1 more source

Inappropriate Gene Activation in FSHD [PDF]

Cell, 2002
Gabellini, Davide, Green, Michael R., Tupler, Rossella   +2 more
openaire   +1 more source

Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) - Case Study. [PDF]

Appl Clin Genet
Duchnowska E, Kosztyła-Hojna B, Zdrojkowski M, Burton-Jones S, Kułak W.   +4 more
europepmc   +1 more source

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD) [PDF]

Human Mutation, 2009
openaire   +2 more sources

KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity. [PDF]

Genes Dev
Hamm DC, O'Donnell AB, Bennett SR, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Tapscott SJ.   +6 more
europepmc   +1 more source

Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy. [PDF]

Hum Mol Genet
Sutliff NA, Chao E, Bennett SR, Nip Y, Lakhdari O, Canton DA, Zhu Y, Tapscott SJ.   +7 more
europepmc   +1 more source