Results 101 to 110 of about 3,407 (171)

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an <i>in vitro</i> model by downregulating RAD21 and β-catenin. [PDF]

Biomed Rep
Chen Q, Chen Y, Zou C, Wang C.
europepmc   +1 more source

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis. [PDF]

Mol Genet Genomic Med
Kao HJ, Wang EHF, Yeh EC, Chen HH, Hsieh FJ, Ko TM, Hwu WL, Kwok PY, Lee NC.   +8 more
europepmc   +1 more source

Linking Genotype to Clinical Features in <i>SMC1A</i>-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review. [PDF]

Genes (Basel)
Astorino MF, Speranza D, Luppino G, La Rosa MA, Briuglia S, Calabrò M.   +5 more
europepmc   +1 more source

[Cornelia de Lange's syndrome].

Arquivos de neuro-psiquiatria, 1973
L C, Werneck, F A, Marçallo
openaire   +1 more source

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype. [PDF]

Front Genet
Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, Trujillano L, Morte B, Pérez-Jurado LA, Lapunzina P, Leitão E, Beygo J, Lich C, Kilpert F, Kaya S, Depienne C, Kaiser FJ, Ramos FJ, Puisac B, Pié J.   +23 more
europepmc   +1 more source

Sinusitis-associated ischemic stroke in an adolescent patient with Cornelia de Lange syndrome. [PDF]

Radiol Case Rep
Yamataka M, Tsutsumi S, Sugiyama N, Ueno H, Ishii H.   +4 more
europepmc   +1 more source

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
Bahari H, Zahiri H, Elouali A, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

Cornelia de Lange Syndrome

NO TO HATATSU, 1971
FUKUYAMA, Yukio, MIYAZAKI, Yukie
openaire   +1 more source

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome. [PDF]

Proc Natl Acad Sci U S A
Liu H, Li H, Cai Q, Zhang J, Zhong H, Hu G, Zhao S, Lu Y, Mao Y, Lu Y, Yao H, Zhang M.   +11 more
europepmc   +1 more source