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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: dietrich je. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
The gender medicine team: "it takes a village".
Axelrad ME, Berg JS, Coker LA, Dietrich J, Adcock L, French SL, Gunn S, Ligon BL, McCullough LB, Sutton VR, Karaviti LP. Axelrad ME, et al. Adv Pediatr. 2009;56:145-64. doi: 10.1016/j.yapd.2009.08.001. Adv Pediatr. 2009. PMID: 19968947 No abstract available.
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team.
Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME, Macias CG, McCullough LB, Suresh D, Sutton VR. Douglas G, et al. Among authors: dietrich je. Int J Pediatr Endocrinol. 2010;2010:919707. doi: 10.1155/2010/919707. Epub 2010 Oct 17. Int J Pediatr Endocrinol. 2010. PMID: 20981291 Free PMC article.
State of the art review in gonadal dysgenesis: challenges in diagnosis and management.
McCann-Crosby B, Mansouri R, Dietrich JE, McCullough LB, Sutton VR, Austin EG, Schlomer B, Roth DR, Karaviti L, Gunn S, Hicks MJ, Macias CG. McCann-Crosby B, et al. Among authors: dietrich je. Int J Pediatr Endocrinol. 2014;2014(1):4. doi: 10.1186/1687-9856-2014-4. Epub 2014 Apr 14. Int J Pediatr Endocrinol. 2014. PMID: 24731683 Free PMC article.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: dietrich je. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
151 results