Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
作者： Diana Braunholz , Carolin Obieglo , Ilaria Parenti , Jelena Pozojevic , Juliane Eckhold
DOI: 10.1002/HUMU.22685
关键词:
摘要: … 1G>C (C) by Sanger sequencing in DNA from blood, BM, and fibroblasts. The mutations identified by panel sequencing in buccal DNA are only clearly detectable in DNA of …
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Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Cristina Gervasini, Donatella Milani, Silvia Russo, Paolo Vezzoni, Lidia Larizza, X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nature Genetics. ,vol. 38, pp. 528- 530 ,(2006) , 10.1038/NG1779
Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Diana Braunholz, Maren Mönnich, Yuqian Yan, Weizhen Xu, María Concepcion Gil-Rodríguez, Dinah Clark, Hakon Hakonarson, Sara Halbach, Laura Daniela Michelis, Abhinav Rampuria, Eva Rossier, Stephanie Spranger, Lionel Van Maldergem, Sally Ann Lynch, Gabriele Gillessen-Kaesbach, Hermann-Josef Lüdecke, Robert G. Ramsay, Michael J. McKay, Ian D. Krantz, Huiling Xu, Julia A. Horsfield, Frank J. Kaiser, RAD21 Mutations Cause a Human Cohesinopathy American Journal of Human Genetics. ,vol. 90, pp. 1014- 1027 ,(2012) , 10.1016/J.AJHG.2012.04.019
Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz, NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations American Journal of Human Genetics. ,vol. 75, pp. 610- 623 ,(2004) , 10.1086/424698
Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, Takehiko Itoh, Masashi Minamino, Katsuya Saitoh, Makiko Komata, Yuki Katou, Dinah Clark, Kathryn E. 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 R. Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria M. Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen-Kaesbach, David W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz, Katsuhiko Shirahige, HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Nature. ,vol. 489, pp. 313- 317 ,(2012) , 10.1038/NATURE11316
Y. Rosenbach, I. Zahavi, G. Dinari, Gastroesophageal dysfunction in Brachmann-de Lange syndrome. American Journal of Medical Genetics. ,vol. 42, pp. 379- 380 ,(1992) , 10.1002/AJMG.1320420327
Hagop Youssoufian, Reed E. Pyeritz, Mechanisms and consequences of somatic mosaicism in humans Nature Reviews Genetics. ,vol. 3, pp. 748- 758 ,(2002) , 10.1038/NRG906
Angelo Selicorni, Anna Maria Colli, Alice Passarini, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Viviana Alloni, Laura Salvini, Maria Albina Galli, Silvia Ghiglia, Patrizia Salice, Gian Battista Danzi, Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. American Journal of Medical Genetics Part A. ,vol. 149, pp. 1268- 1272 ,(2009) , 10.1002/AJMG.A.32838
Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz, Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation American Journal of Human Genetics. ,vol. 80, pp. 485- 494 ,(2007) , 10.1086/511888
Colleen A Morris, Malgorzata J M Nowaczyk, Helga Toriello, Michael J Bamshad, John C Carey, Eric Rappaport, Shimako Kawauchi, Arthur D Lander, Anne L Calof, Hui-hua Li, Marcella Devoto, Laird G Jackson, Ian D Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B Nature Genetics. ,vol. 36, pp. 631- 635 ,(2004) , 10.1038/NG1364
Bruce Gottlieb, Lenore K Beitel, Mark A Trifiro, Somatic mosaicism and variable expressivity. Trends in Genetics. ,vol. 17, pp. 79- 82 ,(2001) , 10.1016/S0168-9525(00)02178-8