Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and EP300[original query] |
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clinical dysmorphology 2016 Jul . Hamilton Mark J, Newbury-Ecob Ruth, Holder-Espinasse Muriel, Yau Shu, Lillis Suzanne, Hurst Jane A, Clement Emma, Reardon William, Joss Shelagh, Hobson Emma, Blyth Moira, Al-Shehhi Maryam, Lynch Sally A, Suri Mohnish, |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. Molecular genetics & genomic medicine 2016 Jan 4 (1): 39-45. Wincent Josephine, Luthman Aron, van Belzen Martine, van der Lans Christian, Albert Johanna, Nordgren Ann, Anderlid Britt-Mar |
Benign and malignant tumors in Rubinstein-Taybi syndrome. American journal of medical genetics. Part A 2018 1 176 (3): 597-608. Boot Max V, van Belzen Martine J, Overbeek Lucy I, Hijmering Nathalie, Mendeville Matias, Waisfisz Quinten, Wesseling Pieter, Hennekam Raoul C, de Jong Daph |
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 1 24 (7): 1594-1603. Diets Illja J, Waanders Esmé, Ligtenberg Marjolijn J, van Bladel Diede A G, Kamping Eveline J, Hoogerbrugge Peter M, Hopman Saskia, Olderode-Berends Maran J, Gerkes Erica H, Koolen David A, Marcelis Carlo, Santen Gijs W, van Belzen Martine J, Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, van Silfhout Anneke Vulto-, Gardeitchik Thatjana, de Bont Eveline S, Loeffen Jan, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans Marjolijn |
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 |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
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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