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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Rubinstein-Taybi Syndrome and CREBBP[original query]
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
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
[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
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
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