Results 91 to 100 of about 1,020 (134)

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion. [PDF]

Genes (Basel)
Valientes SDA, Wang H.
europepmc   +1 more source

Loss of cohesin deacetylation through KDAC8 inactivation leads to altered cohesin complex expression and chromosomal instability. [PDF]

PLoS One
Toro TB, Hammad RH, Huckaba TM, Watt TJ.
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

Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families. [PDF]

Biomolecules
El Fizazi K, Ghaffar A, Bouguenouch L, Saleem IB, Ouldim K, Ahmed ZM, Ridal M, Riazuddin S.   +7 more
europepmc   +1 more source

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals. [PDF]

Congenit Anom (Kyoto)
Kuroda Y, Nagai K, Saito Y, Shimokaze T, Aida N, Satake T, Naruto T, Kurosawa K.   +7 more
europepmc   +1 more source

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models. [PDF]

Cell Death Discov
Parodi C, Lettieri A, Grazioli P, Di Fede E, Grassi S, Taci E, Toscani A, Prioni S, Rebellato S, Colombo EA, Rasetti S, Cutarelli A, Mariani M, Corti S, Finelli P, Prinetti A, Fazio G, Selicorni A, Conti L, Gervasini C, Massa V.   +20 more
europepmc   +1 more source

The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a structural equation modelling approach. [PDF]

BMC Pediatr
O'Sullivan R, Thompson P, Bissell S, Bagshaw AP, Wade K, Pearson E, Murray C, Smith K, Berry E, Crawford H, Moss J, Waite J, Richards C.   +12 more
europepmc   +1 more source

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions. [PDF]

Int J Mol Sci
Orozco BE, Orozco CV, Meléndez E, Mangones MF, Valderrama J, Lobato A, Garavito-Galofre P, Vélez JI, Vidal OM.   +8 more
europepmc   +1 more source

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

Case Report: A novel intronic variant of <i>NIPBL</i> gene detected in a child with cornelia de lange syndrome. [PDF]

Front Genet
Shao XT, Dai YX, Zhao YF, Chen YH, Ying LJ.   +4 more
europepmc   +1 more source