Results 101 to 110 of about 60,147,798 (196)

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

Cornelia de Lange syndrome. [PDF]

Journal of Medical Genetics, 1986
openaire   +2 more sources

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

A concomitant rare congenital anomaly with Cornelia de Lange syndrome: Cleft lip and palate

, 2015
Özet Abstract Cornelia de Lange sendromu nadir görülen multi-sistem tutulum gösteren bir sendromdur. Bu sendromun asıl özellikleri, büyüme geriliği, gelişmede gecikme, hirsutizm, yapısal üst ekstremite anomalileri, mental retardasyon ve karakteristik yüz
Karadağ, Ahmet, Çatal, Ferhat, Kutlutürk, Kazım, Özdemir, Ramazan, Topal, Erdem, Kutlutürk, Yeşim   +5 more
core  

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