Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and CREBBP[original query] |
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Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenital anomalies 2005 Dec 45 (4): 125-31. Udaka Toru, Samejima Hazuki, Kosaki Rika, Kurosawa Kenji, Okamoto Nobuhiko, Mizuno Seiji, Makita Yoshio, Numabe Hironao, Toral Joaquín Fernández, Takahashi Takao, Kosaki Kenji |
Exploring biologically relevant pathways in frailty. The journals of gerontology. Series A, Biological sciences and medical sciences 2011 Sep 66 (9): 975-9. Ho Yen-Yi, Matteini Amy M, Beamer Brock, Fried Linda, Xue Qian-li, Arking Dan E, Chakravarti Aravinda, Fallin M Daniele, Walston Jere |
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, |
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
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 |
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. Neurology. Genetics 2017 Oct 3 (5): e178. Vardarajan Badri N, Tosto Giuseppe, Lefort Roger, Yu Lei, Bennett David A, De Jager Philip L, Barral Sandra, Reyes-Dumeyer Dolly, Nagy Peter L, Lee Joseph H, Cheng Rong, Medrano Martin, Lantigua Rafael, Rogaeva Ekaterina, St George-Hyslop Peter, Mayeux Richa |
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 |
[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 9 36 (9): 886-889. Tang Fang, Li Zhonghui, Cheng Xinran, Su Na, Yan Li, Gou Peng, Gong Chunz |
Genomic Characterization of Upper-Tract Urothelial Carcinoma in Patients With Lynch Syndrome. JCO precision oncology 2019 3 2018 . Donahu Timothy F, Bagrodia Aditya, Audenet François, Donoghue Mark T A, Cha Eugene K, Sfakianos John P, Sperling Dahlia, Al-Ahmadie Hikmat, Clendenning Mark, Rosty Christophe, Buchanan Daniel D, Jenkins Mark, Hopper John, Winship Ingrid, Templeton Allyson S, Walsh Michael F, Stadler Zsofia K, Iyer Gopa, Taylor Barry, Coleman Jonathan, Lindor Noralane M, Solit David B, Bochner Bernard |
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 |
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. American journal of medical genetics. Part A 2021 10 188 (2): 446-453. Nishi Eriko, Takenouchi Toshiki, Miya Fuyuki, Uehara Tomoko, Yanagi Kumiko, Hasegawa Yuiko, Ueda Kimiko, Mizuno Seiji, Kaname Tadashi, Kosaki Kenjiro, Okamoto Nobuhi |
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer. Cancer biology & medicine 2022 5 19 (8): 1235-48. Li Yan, Fan Lihong, Zheng Jianming, Nie Xiu, Sun Yu, Feng Qin, Lian Shenyi, Bai Wenqi, Cai Weijing, Yang Yanan, Su Bo, Xi Yanfeng, Lin Dongm |
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 profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
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:Mar 25, 2024
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