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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Among authors: kohler b. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.
Management of Gonads in Adults with Androgen Insensitivity: An International Survey.
Tack LJW, Maris E, Looijenga LHJ, Hannema SE, Audi L, Köhler B, Holterhus PM, Riedl S, Wisniewski A, Flück CE, Davies JH, T'Sjoen G, Lucas-Herald AK, Evliyaoglu O, Krone N, Iotova V, Marginean O, Balsamo A, Verkauskas G, Weintrob N, Ellaithi M, Nordenström A, Verrijn Stuart A, Kluivers KB, Wolffenbuttel KP, Ahmed SF, Cools M. Tack LJW, et al. Among authors: kohler b. Horm Res Paediatr. 2018;90(4):236-246. doi: 10.1159/000493645. Epub 2018 Oct 18. Horm Res Paediatr. 2018. PMID: 30336477 Free article. Clinical Trial.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Krone N, et al. Among authors: kohler b. J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162478 Free PMC article.
Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study.
Kreukels BPC, Köhler B, Nordenström A, Roehle R, Thyen U, Bouvattier C, de Vries ALC, Cohen-Kettenis PT; dsd-LIFE group. Kreukels BPC, et al. Among authors: kohler b. J Sex Med. 2018 May;15(5):777-785. doi: 10.1016/j.jsxm.2018.02.021. Epub 2018 Mar 30. J Sex Med. 2018. PMID: 29606626
CONCLUSION: To make appropriate gender care possible for people with DSD, the gender-normative and gender-variant development of children with DSD should be studied in longitudinal studies. Kreukels BPC, Kohler B, Nordenstrom A, et al. Gender Dysphoria and Gender Ch …
CONCLUSION: To make appropriate gender care possible for people with DSD, the gender-normative and gender-variant development of children wi …
Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE).
Rapp M, Mueller-Godeffroy E, Lee P, Roehle R, Kreukels BPC, Köhler B, Nordenström A, Bouvattier C, Thyen U; dsd-LIFE group. Rapp M, et al. Among authors: kohler b. Health Qual Life Outcomes. 2018 Apr 3;16(1):54. doi: 10.1186/s12955-018-0881-3. Health Qual Life Outcomes. 2018. PMID: 29615040 Free PMC article.
Karyotype - Phenotype Associations in Patients with Turner Syndrome.
Noordman ID, van der Velden JA, Timmers HJ, Pienkowski C, Köhler B, Kempers M, Reisch N, Richter-Unruh A, Arlt W, Nordenström A, Webb EA, Roeleveld N, Claahsen-van der Grinten HL. Noordman ID, et al. Among authors: kohler b. Pediatr Endocrinol Rev. 2019 Apr;16(4):431-440. doi: 10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome. Pediatr Endocrinol Rev. 2019. PMID: 31245938
662 results