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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 2
2006 1
2007 5
2008 9
2009 6
2010 9
2011 5
2012 9
2013 7
2014 9
2015 10
2016 4
2017 9
2018 12
2019 22
2020 9
2021 12
2022 9
2023 5
2024 2

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140 results

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Page 1
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS, Cheung PT, Choong CSY, Cohen LE, Cohen P, Dauber A, Deal CL, Gong C, Hasegawa Y, Hoffman AR, Hofman PL, Horikawa R, Jorge AAL, Juul A, Kamenický P, Khadilkar V, Kopchick JJ, Kriström B, Lopes MLA, Luo X, Miller BS, Misra M, Netchine I, Radovick S, Ranke MB, Rogol AD, Rosenfeld RG, Saenger P, Wit JM, Woelfle J. Collett-Solberg PF, et al. Among authors: jorge aal. Horm Res Paediatr. 2019;92(1):1-14. doi: 10.1159/000502231. Epub 2019 Sep 12. Horm Res Paediatr. 2019. PMID: 31514194 Free PMC article. Review.
Genetic short stature.
Grunauer M, Jorge AAL. Grunauer M, et al. Among authors: jorge aal. Growth Horm IGF Res. 2018 Feb;38:29-33. doi: 10.1016/j.ghir.2017.12.003. Epub 2017 Dec 6. Growth Horm IGF Res. 2018. PMID: 29249624 Review.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: jorge aal. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: jorge aa. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Genetic causes of isolated short stature.
Vasques GA, Andrade NLM, Jorge AAL. Vasques GA, et al. Among authors: jorge aal. Arch Endocrinol Metab. 2019 Feb;63(1):70-78. doi: 10.20945/2359-3997000000105. Arch Endocrinol Metab. 2019. PMID: 30864634 Free PMC article. Review.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Harris SC, Chong K, Chitayat D, Gilmore KL, Jorge AAL, Freire BL, Lerario A, Shannon P, Cope H, Gallentine WB, Le Guyader G, Bilan F, Létard P, Davis EE, Vora NL. Harris SC, et al. Among authors: jorge aal. Am J Med Genet A. 2023 May;191(5):1282-1292. doi: 10.1002/ajmg.a.63150. Epub 2023 Feb 24. Am J Med Genet A. 2023. PMID: 36826837 Free PMC article. Review.
Role of GLI2 in hypopituitarism phenotype.
Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA. Arnhold IJ, et al. Among authors: jorge aa. J Mol Endocrinol. 2015 Jun;54(3):R141-50. doi: 10.1530/JME-15-0009. Epub 2015 Apr 15. J Mol Endocrinol. 2015. PMID: 25878059 Review.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: jorge aal. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: jorge aal. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.
Update on new GH-IGF axis genetic defects.
Vasques GA, Andrade NLM, Correa FA, Jorge AAL. Vasques GA, et al. Among authors: jorge aal. Arch Endocrinol Metab. 2019 Nov-Dec;63(6):608-617. doi: 10.20945/2359-3997000000191. Arch Endocrinol Metab. 2019. PMID: 31939486 Free PMC article. Review.
140 results