Výsledky vyhledávání - Sarah Ernst
- Zobrazuji výsledky 1 - 2 z 2
-
1
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Autor Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria Mok Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen‐Kaesbach, D.W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige
Vydáno 2012Artigo -
2
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Autor Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Anatomy
Anterior fontanelle
Cell biology
Chromatin
Chromosome
Cohesin
Cornelia de Lange Syndrome
Craniosynostosis
Establishment of sister chromatid cohesion
Hypertelorism
Inheritance (genetic algorithm)
Kinetochore
Loss function
Mitochondrial DNA
Mutation
Non-Mendelian inheritance
Phenotype
X chromosome
X-linked recessive inheritance