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Page 1
Phosphodiesterase 3A and Arterial Hypertension.
Ercu M, Markó L, Schächterle C, Tsvetkov D, Cui Y, Maghsodi S, Bartolomaeus TUP, Maass PG, Zühlke K, Gregersen N, Hübner N, Hodge R, Mühl A, Pohl B, Illas RM, Geelhaar A, Walter S, Napieczynska H, Schelenz S, Taube M, Heuser A, Anistan YM, Qadri F, Todiras M, Plehm R, Popova E, Langanki R, Eichhorst J, Lehmann M, Wiesner B, Russwurm M, Forslund SK, Kamer I, Müller DN, Gollasch M, Aydin A, Bähring S, Bader M, Luft FC, Klussmann E. Ercu M, et al. Among authors: gregersen n. Circulation. 2020 Jul 14;142(2):133-149. doi: 10.1161/CIRCULATIONAHA.119.043061. Epub 2020 Jun 11. Circulation. 2020. PMID: 32524868
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.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: gregersen n. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. Lee E, et al. Among authors: gregersen n. Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215649 Free article.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
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: gregersen n. 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.
426 results