HuGE Literature Finder
Records 1-8
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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 |
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Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.
British journal of haematology 2016 Jul . Shiba Norio, Yoshida Kenichi, Shiraishi Yuichi, Okuno Yusuke, Yamato Genki, Hara Yusuke, Nagata Yasunobu, Chiba Kenichi, Tanaka Hiroko, Terui Kiminori, Kato Motohiro, Park Myoung-Ja, Ohki Kentaro, Shimada Akira, Takita Junko, Tomizawa Daisuke, Kudo Kazuko, Arakawa Hirokazu, Adachi Souichi, Taga Takashi, Tawa Akio, Ito Etsuro, Horibe Keizo, Sanada Masashi, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhi |
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The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes.
British journal of haematology 2016 Mar . Olsson Linda, Zettermark Sofia, Biloglav Andrea, Castor Anders, Behrendtz Mikael, Forestier Erik, Paulsson Kajsa, Johansson Bert |
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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 |
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Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome.
PloS one 2015 10 (8): e0136609. Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-L |
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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 |
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Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications.
Blood 2014 Feb 123 (6): 914-20. Thol Felicitas, Bollin Robin, Gehlhaar Marten, Walter Carolin, Dugas Martin, Suchanek Karl Josef, Kirchner Aylin, Huang Liu, Chaturvedi Anuhar, Wichmann Martin, Wiehlmann Lutz, Shahswar Rabia, Damm Frederik, Göhring Gudrun, Schlegelberger Brigitte, Schlenk Richard, Döhner Konstanze, Döhner Hartmut, Krauter Jürgen, Ganser Arnold, Heuser Micha |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jun 22, 2021
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