Results 211 to 220 of about 207,257 (328)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes [PDF]
, 2012 Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya +20 moreopenalex +1 more sourceIdentification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing [PDF]
, 2012 Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter T. Vedell, Peng Cui, Xing Hua, Feng Ding, Yan Lü, Michael A. James, John D. Ebben, Haiming Xu, Alex A. Adjei, Karen Head, Jaime Wendt Andrae, Michael Tschannen, Howard J. Jacob, Jing Pan, Qi Zhang, Françoise Van den Bergh, Haijie Xiao, Ken C. Lo, Jigar Patel, Todd Richmond, Mary-Anne Watt, Thomas Albert, Rebecca R. Selzer, Marshall W. Anderson, Jiang Wang, Yian Wang, Sandra L. Starnes, Ping Yang, Ming You +32 moreopenalex +1 more sourceNon‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk +10 morewiley +1 more sourceRET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family
, 2011 Xiao-Ping Qi, Juming Ma, Zhenfang Du, Rongbiao Ying, Jun Fei, Hang-Yang Jin, Jianshan Han, Jinquan Wang, Xiaoling Chen, Chun-Yue Chen, Wenting Liu, Jiajun Lu, Jianguo Zhang, Xianning Zhang +13 moreopenalex +2 more sourcesMolecular diagnosis in mitochondrial complex I deficiency using exome sequencing [PDF]
, 2012 Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch +27 moreopenalex +1 more sourceRepurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann +7 morewiley +1 more sourceExome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor [PDF]
, 2012 Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau +22 moreopenalex +1 more sourceAutosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik +10 morewiley +1 more source
