HuGE Literature Finder
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| Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics 2019 Jul . Aoi Hiromi, Mizuguchi Takeshi, Ceroni José Ricard, Kim Veronica Eun Hue, Furquim Isabel, Honjo Rachel S, Iwaki Takuma, Suzuki Toshifumi, Sekiguchi Futoshi, Uchiyama Yuri, Azuma Yoshiteru, Hamanaka Kohei, Koshimizu Eriko, Miyatake Satoko, Mitsuhashi Satomi, Takata Atsushi, Miyake Noriko, Takeda Satoru, Itakura Atsuo, Bertola Débora R, Kim Chong Ae, Matsumoto Naomic |
| Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome. Mental illness 2015 Sep 7 (2): 5988. Parisi Lucia, Di Filippo Teresa, Roccella Miche |
| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of medical genetics 2014 Oct 51 (10): 659-68. Ansari Morad, Poke Gemma, Ferry Quentin, Williamson Kathleen, Aldridge Roland, Meynert Alison M, Bengani Hemant, Chan Cheng Yee, Kayserili Hülya, Avci Sahin, Hennekam Raoul C M, Lampe Anne K, Redeker Egbert, Homfray Tessa, Ross Alison, Falkenberg Smeland Marie, Mansour Sahar, Parker Michael J, Cook Jacqueline A, Splitt Miranda, Fisher Richard B, Fryer Alan, Magee Alex C, Wilkie Andrew, Barnicoat Angela, Brady Angela F, Cooper Nicola S, Mercer Catherine, Deshpande Charu, Bennett Christopher P, Pilz Daniela T, Ruddy Deborah, Cilliers Deirdre, Johnson Diana S, Josifova Dragana, Rosser Elisabeth, Thompson Elizabeth M, Wakeling Emma, Kinning Esther, Stewart Fiona, Flinter Frances, Girisha Katta M, Cox Helen, Firth Helen V, Kingston Helen, Wee Jamie S, Hurst Jane A, Clayton-Smith Jill, Tolmie John, Vogt Julie, Tatton-Brown Katrina, Chandler Kate, Prescott Katrina, Wilson Louise, Behnam Mahdiyeh, McEntagart Meriel, Davidson Rosemarie, Lynch Sally-Ann, Sisodiya Sanjay, Mehta Sarju G, McKee Shane A, Mohammed Shehla, Holden Simon, Park Soo-Mi, Holder Susan E, Harrison Victoria, McConnell Vivienne, Lam Wayne K, Green Andrew J, Donnai Dian, Bitner-Glindzicz Maria, Donnelly Deirdre E, Nellåker Christoffer, Taylor Martin S, FitzPatrick David |
| Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. American journal of medical genetics. Part A 2010 Apr 152A (4): 924-9. Pié Juan, Gil-Rodríguez María Concepción, Ciero Milagros, López-Viñas Eduardo, Ribate María Pilar, Arnedo María, Deardorff Matthew A, Puisac Beatriz, Legarreta Jesús, de Karam Juan Carlos, Rubio Encarnación, Bueno Inés, Baldellou Antonio, Calvo M Teresa, Casals Nuria, Olivares José Luis, Losada Ana, Hegardt Fausto G, Krantz Ian D, Gómez-Puertas Paulino, Ramos Feliciano |
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