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Page 1
Gene expression signatures predict response to therapy with growth hormone.
Pharmacogenomics J. 2021 Oct;21(5):594-607. doi: 10.1038/s41397-021-00237-5. Epub 2021 May 27.
Pharmacogenomics J. 2021.
PMID: 34045667
Free PMC article.
Clinical Trial.
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD.
Tartaglia M, et al. Among authors: siguero jp.
Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13.
Nat Genet. 2007.
PMID: 17143282
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GH deficiency status combined with GH receptor polymorphism affects response to GH in children.
Valsesia A, Chatelain P, Stevens A, Peterkova VA, Belgorosky A, Maghnie M, Antoniazzi F, Koledova E, Wojcik J, Farmer P, Destenaves B, Clayton P; PREDICT Investigator group.
Valsesia A, et al.
Eur J Endocrinol. 2015 Dec;173(6):777-89. doi: 10.1530/EJE-15-0474. Epub 2015 Sep 4.
Eur J Endocrinol. 2015.
PMID: 26340968
Free PMC article.
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P.
Tenorio J, et al.
Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4.
Eur J Hum Genet. 2020.
PMID: 31685998
Free PMC article.
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Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
Ezquieta B, Alonso M, Alvarez E, Arnao DR, Rodríguez A, Siguero JP.
Ezquieta B, et al. Among authors: siguero jp.
Fertil Steril. 2007 Nov;88(5):1437.e5-11. doi: 10.1016/j.fertnstert.2007.01.030. Epub 2007 May 4.
Fertil Steril. 2007.
PMID: 17481616
Free article.
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