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Genetics in Medicine, ISSN 1098-3600, 12/2016, Volume 18, Issue 12, pp. 1324 - 1324
Journal Article
The Journal of urology, 02/2019, Volume 201, Issue 2, p. 392
Journal Article
The Journal of urology, 02/2019, Volume 201, Issue 2, p. 392
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 1141 - 1147
Journal Article
by Shen, Hui and Shih, Juliann and Hollern, Daniel P and Hollern, Daniel and Wang, Zhining and Wang, Linghua and Bowlby, Reanne and Tickoo, Satish K and Thorsson, Vésteinn and Thorsson, Vesteinn and Mungall, Andrew J and Newton, Yulia and Hegde, Apurva M and Armenia, Joshua and Sánchez-Vega, Francisco and Pluta, John and Pyle, Louise C and Mehra, Rohit and Reuter, Victor E and Godoy, Guilherme and Jones, Jeffrey and Jones, Steven J.M and Jones, Corbin D and Shelley, Carl S and Feldman, Darren and Feldman, Darren R and Vidal, Daniel O and Lessel, Davor and Kulis, Tomislav and Cárcano, Flavio M and Leraas, Kristen M and Lichtenberg, Tara M and Brooks, Denise and Cherniack, Andrew D and Cho, Juok and Heiman, David I and Kasaian, Katayoon and Liu, Jia and Liu, Wenbin and Liu, Minwei and Noble, Michael S and Xi, Liu and Zhang, Jiashan (Julia) and Zhang, Jiashan and Zhang, Hailei and Zhou, Wanding and ZenKlusen, Jean C and Hutter, Carolyn M and Felau, Ina and Schultz, Nikolaus and Getz, Gad and Meyerson, Matthew and Stuart, Joshua M and Wheeler, David A and Wheeler, David and Hughes, Daniel and Covington, Kyle and Jayaseelan, Joy C and Korchina, Viktoriya and Lewis, Lora and Hu, Jianhong and Doddapaneni, HarshaVardhan and Muzny, Donna and Gibbs, Richard and Hoadley, Katherine A and Vincent, Benjamin G and Chai, Shengjie and Smith, Christof C and Auman, J. Todd and Shi, Yan and Meng, Shaowu and Skelly, Tara and Tan, Donghui and Veluvolu, Umadevi and Mieczkowski, Piotr A and Wilkerson, Matthew D and Balu, Saianand and Bodenheimer, Tom and Hoyle, Alan P and Jefferys, Stuart R and Mose, Lisle E and Simons, Janae V and Soloway, Matthew G and Roach, Jeffrey and Parker, Joel S and Hayes, D. Neil and Perou, Amy H and Perou, Charles M and Saksena, Gordon and Cibulskis, Carrie and Schumacher, Steven E and Beroukhim, Rameen and Gabriel, Stacey B and Ally, Adrian and Balasundaram, Miruna and Carlsen, Rebecca and Cheung, Dorothy and Chuah, Eric and Dhalla, Noreen and Holt, Robert A and ... and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network
Cell Reports, ISSN 2211-1247, 06/2018, Volume 23, Issue 11, pp. 3392 - 3406
We studied 137 primary testicular germ cell tumors (TGCTs) using high-dimensional assays of genomic, epigenomic, transcriptomic, and proteomic features. These... 
exome sequencing | miR-375 | KIT | DNA methylation | seminoma | nonseminoma | copy number | testicular germ cell tumors | The Cancer Genome Atlas | ENDOGENOUS RETROVIRUSES | KIT GENE | ADOLESCENTS | HIGH-RESOLUTION | MUTATIONS | SEMINOMA | EXPRESSION | HUMAN CANCER | GENOME | CARCINOMA IN-SITU | CELL BIOLOGY | Index Medicus
Journal Article
Journal Article
NeoReviews, 02/2019, Volume 20, Issue 2, pp. e90 - e92
Journal Article
Urology, ISSN 0090-4295, 2017, Volume 105, pp. 171 - 174
Abstract We present two patients found to have ovotesticular disorder of sexual differentiation (otDSD) in late adolescence. Two 15-year-old phenotypically... 
Urology | adolescence | ovotestis | sexual development | pediatric
Journal Article
Urology, ISSN 0090-4295, 07/2017, Volume 105, pp. 171 - 174
We present 2 patients found to have ovotesticular disorder of sexual development (otDSD) in late adolescence. Two 15-year-old phenotypically male patients... 
SINGLE-CENTER EXPERIENCE | SEX DEVELOPMENT | DISORDER | UROLOGY & NEPHROLOGY | KLINEFELTER SYNDROME | TRUE HERMAPHRODITISM | MOSAICISM | Female | Male | Ovotesticular Disorders of Sex Development - diagnosis | Humans | Adolescent | Adolescence | Chromosomes | Children's hospitals | Medical colleges | Index Medicus
Journal Article
American Journal of Physiology - Lung Cellular and Molecular Physiology, ISSN 1040-0605, 10/2011, Volume 301, Issue 4, pp. L587 - L597
Pyle LC, Ehrhardt A, Mitchell LH, Fan L, Ren A, Naren AP, Li Y, Clancy JP, Bolger GB, Sorscher EJ, Rowe SM. Regulatory domain phosphorylation to distinguish... 
Protein kinase A | Potentiators | Short-circuit current | Cystic fibrosis | PHYSIOLOGY | PHARMACOLOGICAL CHAPERONES | PROTEIN PHOSPHATASE 2A | NUCLEOTIDE-BINDING DOMAIN | short-circuit current | TRANSMEMBRANE CONDUCTANCE REGULATOR | CHLORIDE-CHANNEL | RESPIRATORY SYSTEM | cystic fibrosis | AIRWAY EPITHELIUM | CYSTIC-FIBROSIS | protein kinase A | R DOMAIN | potentiators | DELTA-F508 CFTR | SMALL-MOLECULE CORRECTORS | Humans | Cystic Fibrosis - pathology | Cercopithecus aethiops | Quinolones - pharmacology | Aminophenols - pharmacology | Membrane Transport Modulators - pharmacology | Ion Transport - drug effects | Phosphorylation - drug effects | Dimerization | Cresols - pharmacology | Pyrazoles - pharmacology | Cell Line | Gene Expression | Transduction, Genetic | Enzyme-Linked Immunosorbent Assay | Colforsin - pharmacology | Cystic Fibrosis - metabolism | Retroviridae | Cystic Fibrosis Transmembrane Conductance Regulator - metabolism | Protein Structure, Tertiary - genetics | Lentivirus | Blotting, Western | Animals | Diffusion Chambers, Culture | High-Throughput Screening Assays | Cystic Fibrosis - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Mice | Mutation | Cystic Fibrosis - drug therapy | Ion Channel Gating - drug effects | Physiological aspects | Phosphorylation | Genetic aspects | Research | Protein kinases | Thyroid gland | Rodents | Index Medicus
Journal Article
Journal Article
American Journal of Respiratory Cell and Molecular Biology, ISSN 1044-1549, 11/2010, Volume 43, Issue 5, pp. 607 - 616
Journal Article
American Journal of Respiratory Cell and Molecular Biology, ISSN 1044-1549, 11/2010, Volume 43, Issue 5, p. 607
  Therapies to correct the ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) folding defect require sensitive methods to detect channel activity... 
Journal Article