Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: NIPBL[original query] |
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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 |
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. Journal of applied genetics 2012 Dec . Kuzniacka A, Wierzba J, Ratajska M, Lipska BS, Koczkowska M, Malinowska M, Limon J |
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 |
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Molecular genetics & genomic medicine 2014 Mar 2 (2): 115-23. Cheng Yu-Wei, Tan Christopher A, Minor Agata, Arndt Kelly, Wysinger Latrice, Grange Dorothy K, Kozel Beth A, Robin Nathaniel H, Waggoner Darrel, Fitzpatrick Carrie, Das Soma, Del Gaudio Danie |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May . D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital See |
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 |
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. Human genetics 2016 Sep . Hagen Erin M, Sicko Robert J, Kay Denise M, Rigler Shannon L, Dimopoulos Aggeliki, Ahmad Shabbir, Doleman Margaret H, Fan Ruzong, Romitti Paul A, Browne Marilyn L, Caggana Michele, Brody Lawrence C, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James |
De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017 May 94 (3): 486-499.e9. Willsey A Jeremy, Fernandez Thomas V, Yu Dongmei, King Robert A, Dietrich Andrea, Xing Jinchuan, Sanders Stephan J, Mandell Jeffrey D, Huang Alden Y, Richer Petra, Smith Louw, Dong Shan, Samocha Kaitlin E, , , Neale Benjamin M, Coppola Giovanni, Mathews Carol A, Tischfield Jay A, Scharf Jeremiah M, State Matthew W, Heiman Gary |
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 NIPBL gene mutation in a patient 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): 557-560. Mei Jin, Wang Min, Wang Xiaohua, Yao Ju |
[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 |
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes. Psychiatry and clinical neurosciences 2018 10 73 (1): 11-19. Ganesh Suhas, Ahmed P Husayn, Nadella Ravi K, More Ravi P, Seshadri Manasa, Viswanath Biju, Rao Mahendra, Jain Sanjeev, , Mukherjee Odi |
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 |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort. Molecular genetics & genomic medicine 2019 12 8 (2): e1066. Li Shuo, Miao Hui, Yang Hongbo, Wang Linjie, Gong Fengying, Chen Shi, Zhu Huijuan, Pan H |
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 |
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 |
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. BMC genomics 2021 Aug 22 (1): 590. Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur |
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation. Journal of autism and developmental disorders 2021 11 52 (11): 4763-4773. Ajmone Paola Francesca, Allegri Beatrice, Cereda Anna, Michelini Giovanni, Dall'Ara Francesca, Mariani Milena, Rigamonti Claudia, Selicorni Angelo, Vizziello Paola, Costantino Maria Antonel |
Genomic characteristics in neoadjuvant chemoradiotherapy for locally advanced esophageal squamous cell carcinoma. Journal of gastrointestinal oncology 2021 1 11 (6): 1105-1112. He Wenwu, Leng Xuefeng, Wang Kangning, Mao Tiaoqin, Peng Lin, Fang Qiang, Xiao Wenguang, Han Yongt |
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain : a journal of neurology 2022 4 145 (8): 2704-2720. Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin |
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. American journal of medical genetics. Part A 2023 6 . Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko Yamamoto, Emma Schindler, Zayd Al Rawi, Nina Wallace, Jonathan J Wilde, Jennifer McCallum, Jinglan Liu, Dongbin Xu, Marie Jackson, Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar Abdul-Rahman, Bill Allen, Moris A Angula, Kwame Anyane-Yeboa, Jesús Argente, Pamela H Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M Bird, Daniel Bruegger, Gaik-Siew Ch'ng, David Chitayat, Robin Clark, Gerald F Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M Graham, Karen W Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J Hopkin, Kenneth L Jones, Marilyn C Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John Moeschler, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F Rope, Karan Sangha, Angela E Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G Wheeler, Susan M White, Terri Young, Kathleen M Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D Kline, Kosuke Izumi, Sarah E Raible, Ian D Kran |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Molecular genetics & genomic medicine 2024 1 12 (1): e2342. Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Maria Mudau, Engela Honey, Zane Lombard, Amanda Krause, Nadia Carste |
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- Page last updated:Apr 22, 2024
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