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Growth hormone insensitivity associated with a STAT5b mutation.
Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG. Kofoed EM, et al. Among authors: Hwa V. N Engl J Med. 2003 Sep 18;349(12):1139-47. doi: 10.1056/NEJMoa022926. N Engl J Med. 2003. PMID: 13679528 No abstract available.
Genetic analysis of short children with apparent growth hormone insensitivity.
Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Wit JM, et al. Among authors: Hwa V. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V. Klammt J, et al. Among authors: Hwa V. Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0. Nat Commun. 2018. PMID: 29844444 Free PMC article.
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease.
Sari S, Dogu F, Hwa V, Haskologlu S, Dauber A, Rosenfeld R, Polat M, Kuloglu Z, Kansu A, Dalgic B, Ikinciogullari A. Sari S, et al. Among authors: Hwa V. J Clin Immunol. 2016 Jan;36(1):8-11. doi: 10.1007/s10875-015-0220-y. Epub 2015 Dec 19. J Clin Immunol. 2016. PMID: 26686526 No abstract available.
Biology of the somatotroph axis (after the pituitary).
Rosenfeld RG, Hwa V. Rosenfeld RG, et al. Among authors: Hwa V. Ann Endocrinol (Paris). 2017 Jun;78(2):80-82. doi: 10.1016/j.ando.2017.04.002. Epub 2017 May 8. Ann Endocrinol (Paris). 2017. PMID: 28495324 Review.
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GÁ, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Pérez-Jurado LA, Argente J. Dauber A, et al. Among authors: Hwa V. EMBO Mol Med. 2016 Apr 1;8(4):363-74. doi: 10.15252/emmm.201506106. EMBO Mol Med. 2016. PMID: 26902202 Free PMC article.
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Storr HL, et al. Among authors: Hwa V. Endocr Rev. 2019 Apr 1;40(2):476-505. doi: 10.1210/er.2018-00146. Endocr Rev. 2019. PMID: 30265312 Review.
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.
Cabrera-Salcedo C, Shah AS, Andrew M, Tyzinski L, Hwa V, Gutmark-Little I, Backeljauw P, Dauber A. Cabrera-Salcedo C, et al. Among authors: Hwa V. Clin Endocrinol (Oxf). 2017 Dec;87(6):874-876. doi: 10.1111/cen.13400. Epub 2017 Jul 21. Clin Endocrinol (Oxf). 2017. PMID: 28626954 Free PMC article. No abstract available.
Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.
Fang P, Girgis R, Little BM, Pratt KL, Guevara-Aguirre J, Hwa V, Rosenfeld RG. Fang P, et al. Among authors: Hwa V. J Clin Endocrinol Metab. 2008 Mar;93(3):1030-7. doi: 10.1210/jc.2007-2022. Epub 2007 Dec 11. J Clin Endocrinol Metab. 2008. PMID: 18073295
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