TY - JOUR AU - Miller, W. L. AU - Auchus, R. J. PY - 2011 DA - 2011// TI - The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders JO - Endocr Rev VL - 32 UR - https://doi.org/10.1210/er.2010-0013 DO - 10.1210/er.2010-0013 ID - Miller2011 ER - TY - JOUR AU - Peter, M. AU - Janzen, N. AU - Sander, S. AU - Korsch, E. AU - Riepe, F. G. AU - Sander, J. PY - 2008 DA - 2008// TI - A case of 11β-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS JO - Horm Res VL - 69 ID - Peter2008 ER - TY - JOUR AU - Nimkarn, S. AU - New, M. I. PY - 2008 DA - 2008// TI - Steroid 11β-hydroxylase deficiency congenital adrenal hyperplasia JO - Trends Endocrinol Metab VL - 19 UR - https://doi.org/10.1016/j.tem.2008.01.002 DO - 10.1016/j.tem.2008.01.002 ID - Nimkarn2008 ER - TY - JOUR AU - Zhu, Y. S. AU - Cordero, J. J. AU - Can, S. AU - Cai, L. Q. AU - You, X. AU - Herrera, C. PY - 2003 DA - 2003// TI - Mutations in CYP11B1 gene: phenotype-genotype correlations JO - Am J Med Genet A VL - 122A UR - https://doi.org/10.1002/ajmg.a.20108 DO - 10.1002/ajmg.a.20108 ID - Zhu2003 ER - TY - JOUR AU - Zhao, L. Q. AU - Han, S. AU - Tian, H. M. PY - 2008 DA - 2008// TI - Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency JO - World J Pediatr VL - 4 UR - https://doi.org/10.1007/s12519-008-0016-8 DO - 10.1007/s12519-008-0016-8 ID - Zhao2008 ER - TY - JOUR AU - Joehrer, K. AU - Geley, S. AU - Strasser-Wozak, E. M. AU - Azziz, R. AU - Wollmann, H. A. AU - Schmitt, K. PY - 1997 DA - 1997// TI - CYP11B1 mutations causing nonclassic adrenal hyperplasia due to 11β-hydroxylase deficiency JO - Hum Mol Genet VL - 6 UR - https://doi.org/10.1093/hmg/6.11.1829 DO - 10.1093/hmg/6.11.1829 ID - Joehrer1997 ER - TY - JOUR AU - Reisch, N. AU - Högler, W. AU - Parajes, S. AU - Rose, I. T. AU - Dhir, V. AU - Götzinger, J. PY - 2013 DA - 2013// TI - A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism JO - J Clin Endocrinol Metab VL - 98 UR - https://doi.org/10.1210/jc.2013-1306 DO - 10.1210/jc.2013-1306 ID - Reisch2013 ER - TY - JOUR AU - Matsubara, K. AU - Kataoka, N. AU - Ogita, S. AU - Sano, S. AU - Ogata, T. AU - Fukami, M. PY - 2014 DA - 2014// TI - Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder JO - Endocr J VL - 61 UR - https://doi.org/10.1507/endocrj.EJ13-0509 DO - 10.1507/endocrj.EJ13-0509 ID - Matsubara2014 ER - TY - JOUR AU - Nguyen, H. H. AU - Eiden-Plach, A. AU - Hannemann, F. AU - Malunowicz, E. M. AU - Hartmann, M. F. AU - Wudy, S. A. PY - 2016 DA - 2016// TI - Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene JO - J Steroid Biochem Mol Biol VL - 155 UR - https://doi.org/10.1016/j.jsbmb.2015.10.011 DO - 10.1016/j.jsbmb.2015.10.011 ID - Nguyen2016 ER - TY - JOUR AU - Sólyom, R. K. AU - Péter, F. AU - Homoki, J. AU - Sippell, W. G. AU - Peter, M. PY - 2001 DA - 2001// TI - Clinical, hormonal and molecular genetic characterization of Hungarian patients with 11β-hydroxylase deficiency JO - J Pediatr Endocrinol VL - 2 ID - Sólyom2001 ER - TY - JOUR AU - Holcombe, J. H. AU - Keenan, B. S. AU - Nichols, B. L. AU - Kirkland, R. T. AU - Clayton, G. W. PY - 1980 DA - 1980// TI - Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia JO - Pediatrics VL - 65 ID - Holcombe1980 ER - TY - JOUR AU - Mimouni, M. AU - Kaufman, H. AU - Roitman, A. AU - Morag, C. AU - Sadan, N. PY - 1985 DA - 1985// TI - Hypertension in a neonate with 11β-hydroxylase deficiency JO - Eur J Pediatr VL - 143 UR - https://doi.org/10.1007/BF00442149 DO - 10.1007/BF00442149 ID - Mimouni1985 ER - TY - JOUR AU - Parajes, S. AU - Loidi, L. AU - Reisch, N. AU - Dhir, V. AU - Rose, I. T. AU - Hampel, R. PY - 2010 DA - 2010// TI - Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2009-0651 DO - 10.1210/jc.2009-0651 ID - Parajes2010 ER - TY - JOUR AU - Zhang, M. AU - Liu, Y. AU - Sun, S. AU - Zhang, H. AU - Wang, W. AU - Ning, G. PY - 2013 DA - 2013// TI - A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11β-hydroxylase deficiency JO - J Steroid Biochem Mol Biol VL - 133 UR - https://doi.org/10.1016/j.jsbmb.2012.08.011 DO - 10.1016/j.jsbmb.2012.08.011 ID - Zhang2013 ER - TY - JOUR AU - Curnow, K. M. AU - Slutsker, L. AU - Vitek, J. AU - Cole, T. AU - Speiser, P. W. AU - New, M. I. PY - 1993 DA - 1993// TI - Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8 JO - Proc Natl Acad Sci U S A VL - 90 UR - https://doi.org/10.1073/pnas.90.10.4552 DO - 10.1073/pnas.90.10.4552 ID - Curnow1993 ER - TY - JOUR AU - Lopez-Bigas, N. AU - Audit, B. AU - Ouzounis, C. AU - Parra, G. AU - Guigo, R. PY - 2005 DA - 2005// TI - Are splicing mutations the most frequent cause of hereditary disease? JO - FEBS Lett VL - 579 UR - https://doi.org/10.1016/j.febslet.2005.02.047 DO - 10.1016/j.febslet.2005.02.047 ID - Lopez-Bigas2005 ER - TY - JOUR AU - Ward, A. J. AU - Cooper, T. A. PY - 2009 DA - 2009// TI - The pathobiology of splicing JO - J Pathol VL - 220 ID - Ward2009 ER - TY - JOUR AU - Desviat, L. R. AU - Pérez, B. AU - Ugarte, M. PY - 2012 DA - 2012// TI - Minigenes to confirm exon skipping mutations JO - Methods Mol Biol VL - 867 UR - https://doi.org/10.1007/978-1-61779-767-5_3 DO - 10.1007/978-1-61779-767-5_3 ID - Desviat2012 ER - TY - JOUR AU - Scotti, M. M. AU - Swanson, M. S. PY - 2016 DA - 2016// TI - RNA mis-splicing in disease JO - Nat Rev Genet VL - 17 UR - https://doi.org/10.1038/nrg.2015.3 DO - 10.1038/nrg.2015.3 ID - Scotti2016 ER - TY - JOUR AU - Gerstein, M. B. AU - Rozowsky, J. AU - Yan, K. K. AU - Wang, D. AU - Cheng, C. AU - Brown, J. B. PY - 2014 DA - 2014// TI - Comparative analysis of the transcriptome across distant species JO - Nature VL - 512 UR - https://doi.org/10.1038/nature13424 DO - 10.1038/nature13424 ID - Gerstein2014 ER - TY - JOUR AU - Merke, D. P. AU - Tajima, T. AU - Chhabra, A. AU - Barnes, K. AU - Mancilla, E. AU - Baron, J. PY - 1998 DA - 1998// TI - Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency JO - J Clin Endocrinol Metab VL - 83 ID - Merke1998 ER - TY - JOUR AU - Samaranch, L. AU - Lorenzo-Betancor, O. AU - Arbelo, J. M. AU - Ferrer, I. AU - Lorenzo, E. AU - Irigoyen, J. PY - 2010 DA - 2010// TI - PINK1-linked parkinsonism is associated with Lewy body pathology JO - Brain VL - 133 UR - https://doi.org/10.1093/brain/awq051 DO - 10.1093/brain/awq051 ID - Samaranch2010 ER -