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214 results

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A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V. Scaglia PA, et al. Among authors: heinrich jj. J Clin Endocrinol Metab. 2012 May;97(5):E830-9. doi: 10.1210/jc.2011-2554. Epub 2012 Mar 14. J Clin Endocrinol Metab. 2012. PMID: 22419735
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Domené HM, Scaglia PA, Martínez AS, Keselman AC, Karabatas LM, Pipman VR, Bengolea SV, Guida MC, Ropelato MG, Ballerini MG, Lescano EM, Blanco MA, Heinrich JJ, Rey RA, Jasper HG. Domené HM, et al. Among authors: heinrich jj. Horm Res Paediatr. 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6. Horm Res Paediatr. 2013. PMID: 24335034
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: heinrich jj. N Engl J Med. 2003 Sep 18;349(12):1139-47. doi: 10.1056/NEJMoa022926. N Engl J Med. 2003. PMID: 13679528 Free article. No abstract available.
Identification of the first patient with a confirmed mutation of the JAK-STAT system.
Rosenfeld RG, Kofoed E, Buckway C, Little B, Woods KA, Tsubaki J, Pratt KA, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Hwa V. Rosenfeld RG, et al. Among authors: heinrich jj. Pediatr Nephrol. 2005 Mar;20(3):303-5. doi: 10.1007/s00467-004-1678-7. Epub 2005 Feb 2. Pediatr Nephrol. 2005. PMID: 15688233 Review.
Reproducibility and comparison of growth hormone secretion tests.
Ropelato MG, Martínez A, Heinrich JJ, Bergadá C. Ropelato MG, et al. Among authors: heinrich jj. J Pediatr Endocrinol Metab. 1996 Jan-Feb;9(1):41-50. doi: 10.1515/jpem.1996.9.1.41. J Pediatr Endocrinol Metab. 1996. PMID: 8887132
214 results