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Page 1
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabaté MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P, Wémeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montañana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A. Daly AF, et al. Among authors: teh bt. J Clin Endocrinol Metab. 2007 May;92(5):1891-6. doi: 10.1210/jc.2006-2513. Epub 2007 Jan 23. J Clin Endocrinol Metab. 2007. PMID: 17244780 Free article.
A meiotic recombination in a new isolated familial somatotropinoma kindred.
Luccio-Camelo DC, Une KN, Ferreira RE, Khoo SK, Nickolov R, Bronstein MD, Vaisman M, Teh BT, Frohman LA, Mendonça BB, Gadelha MR. Luccio-Camelo DC, et al. Among authors: teh bt. Eur J Endocrinol. 2004 May;150(5):643-8. doi: 10.1530/eje.0.1500643. Eur J Endocrinol. 2004. PMID: 15132719
A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating frequent expression of pituitary tumors but not linked to the multiple endocrine neoplasia type 1 locus at chromosome region 11q13.
Stock JL, Warth MR, Teh BT, Coderre JA, Overdorf JH, Baumann G, Hintz RL, Hartman ML, Seizinger BR, Larsson C, Aronin N. Stock JL, et al. Among authors: teh bt. J Clin Endocrinol Metab. 1997 Feb;82(2):486-92. doi: 10.1210/jcem.82.2.3730. J Clin Endocrinol Metab. 1997. PMID: 9024241
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B. Lenglet M, et al. Among authors: teh bt. Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11. Blood. 2018. PMID: 29891534 Free article.
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
Teh BT, Kytölä S, Farnebo F, Bergman L, Wong FK, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P, et al. Teh BT, et al. J Clin Endocrinol Metab. 1998 Aug;83(8):2621-6. doi: 10.1210/jcem.83.8.5059. J Clin Endocrinol Metab. 1998. PMID: 9709921 Free article.
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. Benusiglio PR, et al. Among authors: teh bt. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912. Epub 2015 Apr 24. J Med Genet. 2015. PMID: 25911086
492 results