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429 results

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Page 1
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T. Scholl UI, et al. Among authors: lifton rp. Clin Endocrinol (Oxf). 2015 Dec;83(6):779-89. doi: 10.1111/cen.12873. Epub 2015 Sep 23. Clin Endocrinol (Oxf). 2015. PMID: 26252618 Free PMC article.
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Scholl UI, et al. Among authors: lifton rp. Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913001 Free PMC article.
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Juhlin CC, et al. Among authors: lifton rp. J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9. J Clin Endocrinol Metab. 2015. PMID: 25490274 Free PMC article.
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. Choi M, et al. Among authors: lifton rp. Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Science. 2011. PMID: 21311022 Free PMC article.
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP. Goh G, et al. Among authors: lifton rp. Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747643 Free PMC article.
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
Kunstman JW, Juhlin CC, Goh G, Brown TC, Stenman A, Healy JM, Rubinstein JC, Choi M, Kiss N, Nelson-Williams C, Mane S, Rimm DL, Prasad ML, Höög A, Zedenius J, Larsson C, Korah R, Lifton RP, Carling T. Kunstman JW, et al. Among authors: lifton rp. Hum Mol Genet. 2015 Apr 15;24(8):2318-29. doi: 10.1093/hmg/ddu749. Epub 2015 Jan 9. Hum Mol Genet. 2015. PMID: 25576899 Free PMC article.
429 results