Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
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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 |
| Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2018 9 74 56-60. Liu Min, Wang Yuhuan, Yang Sijia, Wei He, Tuo Miao, Chang Fei, Wang Yuh |
| Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 21 (3): 663-675. Yuan Bo, Neira Juanita, Pehlivan Davut, Santiago-Sim Teresa, Song Xiaofei, Rosenfeld Jill, Posey Jennifer E, Patel Vipulkumar, Jin Weihong, Adam Margaret P, Baple Emma L, Dean John, Fong Chin-To, Hickey Scott E, Hudgins Louanne, Leon Eyby, Madan-Khetarpal Suneeta, Rawlins Lettie, Rustad Cecilie F, Stray-Pedersen Asbjørg, Tveten Kristian, Wenger Olivia, Diaz Jullianne, Jenkins Laura, Martin Laura, McGuire Marianne, Pietryga Marguerite, Ramsdell Linda, Slattery Leah, , Abid Farida, Bertuch Alison A, Grange Dorothy, Immken LaDonna, Schaaf Christian P, Van Esch Hilde, Bi Weimin, Cheung Sau Wai, Breman Amy M, Smith Janice L, Shaw Chad, Crosby Andrew H, Eng Christine, Yang Yaping, Lupski James R, Xiao Rui, Liu Pengf |
| [Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 493-497. Miao Yequan, Zhu Yueyue, Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong, Ning Ying, Pan Qio |
| 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 |
| Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome. Frontiers in pediatrics 2019 6 7 203. Krawczynska Natalia, Wierzba Jolanta, Wasag Barto |
| First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. Journal of clinical pathology 2019 4 72 (8): 558-561. Fazio Grazia, Massa Valentina, Grioni Andrea, Bystry Vojtech, Rigamonti Silvia, Saitta Claudia, Galbiati Marta, Rizzari Carmelo, Consarino Caterina, Biondi Andrea, Selicorni Angelo, Cazzaniga Giovan |
| Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 2019 1 179 (2): 150-158. Dowsett Leah, Porras Antonio R, Kruszka Paul, Davis Brandon, Hu Tommy, Honey Engela, Badoe Eben, Thong Meow-Keong, Leon Eyby, Girisha Katta M, Shukla Anju, Nayak Shalini S, Shotelersuk Vorasuk, Megarbane Andre, Phadke Shubha, Sirisena Nirmala D, Dissanayake Vajira H W, Ferreira Carlos R, Kisling Monisha S, Tanpaiboon Pranoot, Uwineza Annette, Mutesa Leon, Tekendo-Ngongang Cedrik, Wonkam Ambroise, Fieggen Karen, Batista Leticia Cassimiro, Moretti-Ferreira Danilo, Stevenson Roger E, Prijoles Eloise J, Everman David, Clarkson Kate, Worthington Jessica, Kimonis Virginia, Hisama Fuki, Crowe Carol, Wong Paul, Johnson Kisha, Clark Robin D, Bird Lynne, Masser-Frye Diane, McDonald Marie, Willems Patrick, Roeder Elizabeth, Saitta Sulgana, Anyane-Yeoba Kwame, Demmer Laurie, Hamajima Naoki, Stark Zornitza, Gillies Greta, Hudgins Louanne, Dave Usha, Shalev Stavit, Siu Victoria, Ades Ann, Dubbs Holly, Raible Sarah, Kaur Maninder, Salzano Emanuela, Jackson Laird, Deardorff Matthew, Kline Antonie, Summar Marshall, Muenke Maximilian, Linguraru Marius George, Krantz Ian |
| Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Molecular genetics & genomic medicine 2019 Jan e549. Salehi Karlslätt Karin, Pettersson Maria, Jäntti Nina, Szafranski Przemyslaw, Wester Tomas, Husberg Britt, Ullberg Ulla, Stankiewicz Pawel, Nordgren Ann, Lundin Johanna, Lindstrand Anna, Nordenskjöld Agne |
| Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. American journal of medical genetics. Part A 2020 6 182 (7): 1690-1696. Cucco Francesco, Sarogni Patrizia, Rossato Sara, Alpa Mirella, Patimo Alessandra, Latorre Ana, Magnani Cinzia, Puisac Beatriz, Ramos Feliciano J, Pié Juan, Musio Anton |
| [Genetic variant analysis of a neonate with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 449-451. Sun Yuanyuan, Chen Cuie, Di Tianwei, Shao Haoran, Zhu Ronghe, Zhu Yanke, Zhou Aihua, Wang Q |
| Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing. Epilepsy research 2023 1 190 107094. Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguy |
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- Page last updated:Jun 02, 2023
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