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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 28, 2023. (Total: 221530Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: De Lange Syndrome and ANKRD11[original query]
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
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
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
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
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