Results 81 to 90 of about 15,137 (146)

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of <i>RAD21</i> Deletion. [PDF]

Hum Mutat
Xie Y, Li D, Li W, Tao Y, Tang L, Li L, Li G, Jiang H.   +7 more
europepmc   +1 more source

Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report. [PDF]

Case Rep Obstet Gynecol
Kurniawan AP, Abdurrazak G, Muthalib AA, Hasani RDK.   +3 more
europepmc   +1 more source

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report. [PDF]

Cureus
Cherrabi C, Ayyad A, Ech-Chebab M, Messaoudi S, Amrani R.   +4 more
europepmc   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China. [PDF]

Appl Clin Genet
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z.   +10 more
europepmc   +1 more source

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype. [PDF]

Nat Commun
Parenti I, Hesters A, Gil-Salvador M, Duffy L, Kanber D, Beygo J, Kerkhof J, Steenpaß L, Leitão E, Woestefeld J, Boone PM, Kao EM, Alabdi L, Aldhalaan HM, Alkuraya FS, Alshammari MJ, Antonarakis SE, Basel D, Cassinari K, de Polli Cellin L, Clause AR, de Lima Jorge AA, de Castro Leal A, Collins SC, Durand B, Eckhold J, Hashem MO, Jayakar P, Khan AO, Kato K, Kubica R, Lyon GJ, Marchi E, McCarrier J, Kimmig LK, Mizuno S, Nicolas G, Nishio Y, Ogi T, Pié J, Prell J, Puisac B, Ramos FJ, Ranza E, Redin C, Rush E, Saitoh S, Shamseldin HE, Starling S, Astiazaran-Symonds E, Eltahir SH, Kuechler A, Sadikovic B, Yalcin B, Wendt KS, Kaiser FJ.   +55 more
europepmc   +1 more source

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

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening. [PDF]

Front Immunol
Retif H, Rolhfs Rivera D, Upadia J, Wysocki C, Abreo A, Wall LA.   +5 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

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

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast. [PDF]

Genetics, 2023
Chen J, Floyd EN, Dawson DS, Rankin S.
europepmc   +1 more source