Results 101 to 110 of about 15,137 (146)

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

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome. [PDF]

Hum Mutat
Ansari M, Halachev M, Parry D, Campos JL, D'Souza EN, Barnett C, Wilkie AOM, Barnicoat A, Patel CV, Sukarova-Angelovska E, Girisha KM, Firth HV, Prescott K, Wilson LC, McEntagart M, Davidson R, Lynch SA, Joss S, Holden ST, Lam WK, Sisodiya SM, Green AJ, Poke G, Whiffin N, FitzPatrick DR, Meynert A.   +25 more
europepmc   +1 more source

Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
Kondapaneni R, Florence K, Dooley L, Garrett F.   +3 more
europepmc   +1 more source

Dysphagia and Body Composition in Cornelia de Lange Syndrome. [PDF]

Biomedicines
Mędza A, Cieszko A, Gliwa M, Brzeziński M, Wierzba J, Szlagatys-Sidorkiewicz A, Sznurkowska K.   +6 more
europepmc   +1 more source

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report. [PDF]

Children (Basel)
Choi SY, Hong YR, Oh CE, Lee JH.
europepmc   +1 more source

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells. [PDF]

Cells
Di Nardo M, Krantz ID, Musio A.
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

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

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