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OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity.
Lofrano-Porto A, Pereira SA, Dauber A, Bloom JC, Fontes AN, Asimow N, de Moraes OL, Araujo PAT, Abreu AP, Guo MH, De Oliveira SF, Liu H, Lee C, Kuohung W, Coelho MS, Carroll RS, Jiang R, Kaiser UB. Lofrano-Porto A, et al. Among authors: guo mh. J Clin Invest. 2023 Dec 1;133(23):e161701. doi: 10.1172/JCI161701. J Clin Invest. 2023. PMID: 37847567 Free PMC article.
Whole exome sequencing to identify genetic causes of short stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Guo MH, et al. Horm Res Paediatr. 2014;82(1):44-52. doi: 10.1159/000360857. Epub 2014 Jun 20. Horm Res Paediatr. 2014. PMID: 24970356 Free PMC article. Clinical Trial.
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
Ocaranza P, Golekoh MC, Andrew SF, Guo MH, Kaplowitz P, Saal H, Rosenfeld RG, Dauber A, Cassorla F, Backeljauw PF, Hwa V. Ocaranza P, et al. Among authors: guo mh. Horm Res Paediatr. 2017;87(6):412-422. doi: 10.1159/000464143. Epub 2017 Apr 10. Horm Res Paediatr. 2017. PMID: 28395282 Free PMC article.
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. Kerns SL, et al. J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24. J Clin Endocrinol Metab. 2014. PMID: 25057881 Free PMC article.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: guo mh. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
149 results