Results 121 to 130 of about 2,646 (162)

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants. [PDF]

BMC Ophthalmol
Vilella T, Nunes BC, Del Valle GS, Pinheiro IF, Aoi H, Mizuguchi T, Seyama R, Uchiyama Y, Matsumoto N, Kim CA, Sallum JMF, Melaragno MI, Cristovam PC.   +12 more
europepmc   +1 more source

Silencing of BCL11A by disrupting enhancer-dependent epigenetic insulation.

Blood
Wang K, Wang J, Feng R, Dudnyk K, Kim YJ, Lim JYS, Lee M, Zhang Y, Gao X, Cheng Y, Orkin SH, Zhou J, Weiss MJ, Yue F, Xu J.   +14 more
europepmc   +1 more source

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort. [PDF]

Hum Genomics
Fu F, Wei X, Chen C, Huang R, Tan X, Zhou H, Li R, Yu Q, Li F, Zhang Y, Li L, Jing X, Li D, Sun L, Liao C.   +14 more
europepmc   +1 more source

Cohesin drives chromatin scanning during the RAD51-mediated homology search. [PDF]

Science
Marin-Gonzalez A, Rybczynski AT, Nilavar NM, Nguyen D, Li AG, Karwacki-Neisius V, Zou RS, Avilés-Vázquez FJ, Kanemaki MT, Scully R, Ha T.   +10 more
europepmc   +1 more source

Disruption of TAD hierarchy promotes LTR co-option in cancer. [PDF]

Nat Genet
Wong EWP, Sahin M, Yang R, Lee U, Li D, Zhan YA, Misra R, Tomas F, Alomran N, Polyzos A, Lee CJ, Trieu T, Martinez-Fundichely A, Wiesner T, Rosowicz A, Cheng S, Liu C, Lallo M, Shoushtari AN, Merghoub T, Hamard PJ, Koche R, Khurana E, Apostolou E, Zheng D, Chen Y, Leslie CS, Chi P.   +27 more
europepmc   +1 more source

Non-Classic Cornelia de Lange Syndrome Due to <i>BRD4</i> Gene Alterations: A Literature Review. [PDF]

Children (Basel)
Lonardo F, Falco M, Costabile C, Fontana P.   +3 more
europepmc   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients. [PDF]

Pediatr Investig
Li X, Cheng M, Liu M, Li W, Li Y, Cao B, Wei L, Ding Y, Meng X, Li L, Gong C.   +10 more
europepmc   +1 more source

A scaffolding element rewires local 3D chromatin architecture during differentiation. [PDF]

Nat Commun
Jerković I, Di Stefano M, Reboul H, Szalay MF, Normanno D, Paldi F, Papadopoulos GL, Szabo Q, Bantignies F, Cavalli G.   +9 more
europepmc   +1 more source