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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 - 5 (of 5 Records)

Query Trace: Rubinstein-Taybi Syndrome and EP300[original query]
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
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
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