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A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY. 出版年: 2018
作者:  Rothacker, Karen M.;  Ayers, Katie L.;  Tang, Dave;  Joshi, Kiranjit;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Samnakay, Naeem;  Nagarajan, Lakshmi;  Francis, Kate;  Sinclair, Andrew H.;  Choong, Catherine S.
收藏  |  浏览/下载：7/0  |  提交时间：2021/01/08
Disorder of sex development  Desert hedgehog  DHH  Gonadal dysgenesis  Massively parallel sequencing  
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort 期刊论文
发表期刊: GENOME BIOLOGY. 出版年: 2016, 卷号: 17
作者:  Eggers, Stefanie;  Sadedin, Simon;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Ohnesorg, Thomas;  Hewitt, Jacqueline;  Lambeth, Luke;  Bouty, Aurore;  Knarston, Ingrid M.;  Tiong Yang Tan;  Cameron, Fergus;  Werther, George;  Hutson, John;  O’Connell, Michele;  Grover, Sonia R.;  Heloury, Yves;  Zacharin, Margaret;  Bergman, Philip;  Kimber, Chris;  Brown, Justin;  Webb, Nathalie;  Hunter, Matthew F.;  Srinivasan, Shubha;  Titmuss, Angela;  Verge, Charles F.;  Mowat, David;  Smith, Grahame;  Smith, Janine;  Ewans, Lisa;  Shalhoub, Carolyn;  Crock, Patricia;  Cowell, Chris;  Leong, Gary M.;  Ono, Makato;  Lafferty, Antony R.;  Huynh, Tony;  Visser, Uma;  Choong, Catherine S.;  McKenzie, Fiona;  Pachter, Nicholas;  Thompson, Elizabeth M.;  Couper, Jennifer;  Baxendale, Anne;  Gecz, Jozef;  Wheeler, Benjamin J.;  Jefferies, Craig;  MacKenzie, Karen;  Hofman, Paul;  Carter, Philippa;  King, Richard I.;  Krausz, Csilla;  van Ravenswaaij-Arts, Conny M. A.;  Looijenga, Leendert;  Drop, Sten;  Riedl, Stefan;  Cools, Martine;  Dawson, Angelika;  Juniarto, Achmad Zulfa;  Khadilkar, Vaman;  Khadilkar, Anuradha;  Bhatia, Vijayalakshmi;  Vu Chi Dung;  Atta, Irum;  Raza, Jamal;  Nguyen Thi Diem Chi;  Tran Kiem Hao;  Harley, Vincent;  Koopman, Peter;  Warne, Garry;  Faradz, Sultana;  Oshlack, Alicia;  Ayers, Katie L.;  Sinclair, Andrew H.
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/29
Disorders of sex development  Gonad  Testis  Ovaries  Ovotestes  Massively parallel sequencing  MPS  Cohort  Targeted gene panel  Genetic diagnosis  Variant  Mutation  
Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST) 期刊论文
发表期刊: BMC CANCER. 出版年: 2014, 卷号: 14
作者:  Nannini, Margherita;  Astolfi, Annalisa;  Urbini, Milena;  Indio, Valentina;  Santini, Donatella;  Heinrich, Michael C.;  Corless, Christopher L.;  Ceccarelli, Claudio;  Saponara, Maristella;  Mandrioli, Anna;  Lolli, Cristian;  Ercolani, Giorgio;  Brandi, Giovanni;  Biasco, Guido;  Pantaleo, Maria A.
收藏  |  浏览/下载：2/0  |  提交时间：2019/11/29
Gastrointestinal stromal tumors (GIST)  Wild-type  KIT  PDGFRA  Succinate dehydrogenase  SDHA  RAS  Quadruple(WT)  
Transcriptome sequencing and microarray development for the woodrat (Neotoma spp.): custom genetic tools for exploring herbivore ecology 期刊论文
发表期刊: MOLECULAR ECOLOGY RESOURCES. 出版年: 2013, 卷号: 13, 期号: 4, 页码: 674-687
作者:  Malenke, J. R.;  Milash, B.;  Miller, A. W.;  Dearing, M. D.
收藏  |  浏览/下载：2/0  |  提交时间：2019/11/29
gene expression  herbivore  microarray  next-generation sequencing  transcriptome  vertebrate  
DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia 期刊论文
发表期刊: ONCOTARGET. 出版年: 2013, 卷号: 4, 期号: 10, 页码: 1712-1720
作者:  Masetti, Riccardo;  Togni, Marco;  Astolfi, Annalisa;  Pigazzi, Martina;  Manara, Elena;  Indio, Valentina;  Rizzari, Carmelo;  Rutella, Sergio;  Basso, Giuseppe;  Pession, Andrea;  Locatelli, Franco
收藏  |  浏览/下载：2/0  |  提交时间：2019/11/29
pediatric acute myeloid leukemia  cytogenetically normal acute myeloid leukemia  whole-transcriptome massively parallel sequencing  CBFA2T3-GLIS2 fusion transcript  DHH-RHEBL1 fusion transcript  
Next Generation DNA Sequencing Applied to the Date Palm Tree (Phoenix dactylifera) 会议论文
会议名称: 4th International Date Palm Conference. 会议地点: Abu Dhabi, U ARAB EMIRATES. 会议日期: MAR 15-17, 2010
作者:  Malek, J. A.
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/09
Next Generation DNA Sequencing Applied to the Date Palm Tree (Phoenix dactylifera) 会议论文
会议名称: 4th International Date Palm Conference. 会议地点: Abu Dhabi, U ARAB EMIRATES. 会议日期: MAR 15-17, 2010
作者:  Malek, J. A.
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/09
ChIP-seq accurately predicts tissue-specific activity of enhancers 期刊论文
发表期刊: NATURE. 出版年: 2009, 卷号: 457, 期号: 7231, 页码: 854-858
作者:  Visel, Axel;  Blow, Matthew J.;  Li, Zirong;  Zhang, Tao;  Akiyama, Jennifer A.;  Holt, Amy;  Plajzer-Frick, Ingrid;  Shoukry, Malak;  Wright, Crystal;  Chen, Feng;  Afzal, Veena;  Ren, Bing;  Rubin, Edward M.;  Pennacchio, Len A.
收藏  |  浏览/下载：7/0  |  提交时间：2019/11/28
Chromosome Conformation Capture Carbon Copy (5C): A massively parallel solution for mapping interactions between genomic elements 期刊论文
发表期刊: GENOME RESEARCH. 出版年: 2006, 卷号: 16, 期号: 10, 页码: 1299-1309
作者:  Dostie, Josee;  Richmond, Todd A.;  Arnaout, Ramy A.;  Selzer, Rebecca R.;  Lee, William L.;  Honan, Tracey A.;  Rubio, Eric D.;  Krumm, Anton;  Lamb, Justin;  Nusbaum, Chad;  Green, Roland D.;  Dekker, Job
收藏  |  浏览/下载：3/0  |  提交时间：2019/11/28