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763 results

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Page 1
Genetic heterogeneity in Peutz-Jeghers syndrome.
Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, Schaid DJ, Hartmann LC, Schroeder JJ, Stratakis CA, Thibodeau SN. Boardman LA, et al. Among authors: stratakis ca. Hum Mutat. 2000;16(1):23-30. doi: 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M. Hum Mutat. 2000. PMID: 10874301
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Balemans W, et al. Hum Mol Genet. 2001 Mar 1;10(5):537-43. doi: 10.1093/hmg/10.5.537. Hum Mol Genet. 2001. PMID: 11181578
EndoBridge 2023: highlights and pearls.
Yildiz BO, Boguszewski CL, da Silva Boguszewski MC, Busetto L, Celik O, Fuleihan GE, Goulis DG, Hammer GD, Haymart MR, Kaltsas G, Law JR, Lim AYL, Luger A, Macut D, McGowan B, McClung M, Miras AD, Patti ME, Peeters RP, Pignatelli D, Saeed H, Sipos J, Stratakis CA, Tsoli M, van der Lely AJ, Witchel SF, Yazici D. Yildiz BO, et al. Among authors: stratakis ca. Hormones (Athens). 2024 Apr 15. doi: 10.1007/s42000-024-00549-8. Online ahead of print. Hormones (Athens). 2024. PMID: 38619812 Review.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. Among authors: stratakis ca. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
Correction: FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Nguyen M, Maria AG, Faucz FR, Trivellin G, Stratakis CA, Tatsi C. Nguyen M, et al. Among authors: stratakis ca. Horm Metab Res. 2024 Jan 8. doi: 10.1055/a-2229-4823. Online ahead of print. Horm Metab Res. 2024. PMID: 38190978 No abstract available.
763 results