Results 71 to 80 of about 3,407 (171)

Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient. [PDF]

Cureus
Tobia HT, Alalawi F, Mohan D, Alhadari A.   +3 more
europepmc   +1 more source

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

[A case of Cornelia de Lange syndrome].

Shoni shikagaku zasshi. The Japanese journal of pedodontics, 1984
Sorata, Yasuhiro, Inoue, Hideto, Kinoshita, Takaaki, Uchino, Kouichi, Kimura, Mitsutaka, Ishii, Kimio   +5 more
openaire   +2 more sources

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

Síndrome de Cornelia. Presentación de caso de enfermería vinculado a la teoría de Ida Orlando

Revista Médica Electrónica
En 1933, una pediatra holandesa, la Dra. Cornelia de Lange, describía dos niños con rasgos similares, hoy en día es ella a quien se le reconoce el haber descrito los síntomas que abarcan el síndrome que lleva su nombre.
Maddiel Moldes Acanda, Maricela González Reguera, Liana Alicia Prado Solar, Martha María Ortega González   +3 more
doaj