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Page 1
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R. Nguyen NMP, et al. Among authors: jagadeesh s. Mod Pathol. 2018 Jul;31(7):1116-1130. doi: 10.1038/s41379-018-0031-9. Epub 2018 Feb 20. Mod Pathol. 2018. PMID: 29463882 Free article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Persistent Left Superior Vena Cava in Fetuses: An Autopsy Series.
Ramakrishnan D, Chidambarathanu S, Murli L, Micheal J, Jagadeesh S, Suresh I, Seshadri S. Ramakrishnan D, et al. Among authors: jagadeesh s. Fetal Pediatr Pathol. 2017 Aug;36(4):304-310. doi: 10.1080/15513815.2017.1324546. Epub 2017 Jun 1. Fetal Pediatr Pathol. 2017. PMID: 28569558
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Among authors: jagadeesh s. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: jagadeesh s. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
90 results