Results 131 to 140 of about 3,423 (190)

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

Clinicopathological features of CIC-rearranged sarcomas: a retrospective study including novel visceral locations and methylation profile analysis. [PDF]

Virchows Arch
Balko J, Kukla F, Krskova L, Stolová L, Vicha A, Zamecnik J.   +5 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

Cranial placode differentiation defect in individuals born without a nose. [PDF]

Stem Cell Reports
Rao VV, Ji X, Heng JYY, Magdinier F, Reversade B, Xue S.   +5 more
europepmc   +1 more source

Advances in the diagnosis and classification of B-ALL: comparative insights from updated guidelines. [PDF]

Blood Adv
Chen X, Yuan L, Ma X, Wang F, Zhang Y, Fang J, Cao P, Wang T, Chen J, Zhou X, Long J, Liu H.   +11 more
europepmc   +1 more source

[Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Luo YX, Jiang H, Wang JY, Hao WG, Zhang WN.   +4 more
europepmc   +1 more source

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. [PDF]

Eur J Hum Genet
Salsi V, Losi F, Pini S, Chiara M, Tupler R.   +4 more
europepmc   +1 more source

Ultrastructural and Immunohistochemical Alterations in Muscle and Vascular Tissues in Patients with Omphalocele. [PDF]

Int J Mol Sci
Namat DR, Rosca AR, Hînganu D, Lozneanu L, Lupu FC, Hanganu E, Tarca E, Bernic J, Namat NA, Al Namat R, Hînganu MV.   +10 more
europepmc   +1 more source

Modulating the cleavage and polyadenylation site: from research tools to therapeutic opportunities. [PDF]

RNA
Ma F, Tian B.
europepmc   +1 more source

A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C. [PDF]

J Hum Genet
Zhuang Z, Ueda MT, Yamaguchi K, Kochi Y.
europepmc   +1 more source