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Items: 1 to 20 of 29

1.
Sara Marsango, Maria Carmela Bonaccorsi di Patti, Donatella Barra, Rossella Miele
Cell Mol Life Sci. 2011 Sep; 68(17): 2919–2929. Published online 2010 Dec 14. doi: 10.1007/s00018-010-0601-6
PMCID:
PMC11114510
2.
Aslı Derya Kardelen, Adam Najaflı, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z. Oya Uyguner
J Clin Res Pediatr Endocrinol. 2023 Dec; 15(4): 338–347. Published online 2023 Nov 22. doi: 10.4274/jcrpe.galenos.2023.2023-4-4
PMCID:
PMC10683534
3.
Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Fang Jiang, Ruizhi Zheng, Maria I Stamou, Lacey Plummer, Ravikumar Balasubramanian, Jia-Da Li
Hum Mol Genet. 2023 May 15; 32(10): 1722–1729. Published online 2023 Jan 25. doi: 10.1093/hmg/ddad014
PMCID:
PMC10422949
4.
Yong Bhum Song, Seung-Yeol Park, Kunyou Park, Hayoung Hwang, Rona S. Carroll, Victor W. Hsu, Ursula B. Kaiser
Proc Natl Acad Sci U S A. 2022 Feb 22; 119(8): e2102248119. Published online 2022 Feb 16. doi: 10.1073/pnas.2102248119
PMCID:
PMC8872787
5.
Francesca Aiello, Grazia Cirillo, Alessandra Cassio, Raffaella Di Mase, Gianluca Tornese, Giuseppina R. Umano, Emanuele Miraglia del Giudice, Anna Grandone
Ital J Pediatr. 2021; 47: 5. Published online 2021 Jan 7. doi: 10.1186/s13052-020-00951-z
PMCID:
PMC7792053
6.
Kimberly H Cox, Luciana M B Oliveira, Lacey Plummer, Braden Corbin, Thomas Gardella, Ravikumar Balasubramanian, William F Crowley
Hum Mol Genet. 2018 Jan 15; 27(2): 338–350. Published online 2017 Nov 17. doi: 10.1093/hmg/ddx404
PMCID:
PMC5886255
7.
Magdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P. Sykiotis, Jacques Young, Richard Quinton, Ana Paula Abreu, Lacey Plummer, Margaret G. Au, Ravikumar Balasubramanian, Andrew A. Dwyer, Jose C. Florez, Timothy Cheetham, Simon H. Pearce, Radhika Purushothaman, Albert Schinzel, Michel Pugeat, Elka E. Jacobson-Dickman, Svetlana Ten, Ana Claudia Latronico, James F. Gusella, Catherine Dode, William F. Crowley, Jr, Nelly Pitteloud
Hum Mol Genet. 2012 Oct 1; 21(19): 4314–4324. Published online 2012 Jul 5. doi: 10.1093/hmg/dds264
PMCID:
PMC3441126
8.
Ana Paula Abreu, Sekoni D. Noel, Shuyun Xu, Rona S. Carroll, Ana Claudia Latronico, Ursula B. Kaiser
Mol Endocrinol. 2012 Aug; 26(8): 1417–1427. Published online 2012 Jun 28. doi: 10.1210/me.2012-1102
PMCID:
PMC3404297
9.
Zhen Peng, Yong Tang, Hunjin Luo, Fang Jiang, Jiannan Yang, Lin Sun, Jia-Da Li
J Biol Chem. 2011 May 13; 286(19): 16615–16622. Published online 2011 Mar 16. doi: 10.1074/jbc.M111.223784
PMCID:
PMC3089504
10.
Kentaro Ichioka, Takeshi Yoshikawa, Hiroko Kimura, Ryoichi Saito
BMJ Case Rep. 2024; 17(1): e258042. Published online 2024 Jan 25. doi: 10.1136/bcr-2023-258042
PMCID:
PMC10826480
11.
Shana E. McCormack, Dong Li, Yeon Joo Kim, Ji Young Lee, Soo-Hyun Kim, Robert Rapaport, Michael A. Levine
J Clin Endocrinol Metab. 2017 Jul 1; 102(7): 2501–2507. Published online 2017 Apr 27. doi: 10.1210/jc.2017-00332
PMCID:
PMC5505202
12.
Yun-lei Cao, Zhao-feng Zhang, Jian Wang, Mao-hua Miao, Jian-hua Xu, Yue-ping Shen, Ai-min Chen, Jing Du, Wei Yuan
J Zhejiang Univ Sci B. 2016 Mar; 17(3): 218–224. doi: 10.1631/jzus.B1500180
PMCID:
PMC4794513
13.
Anat Levit, Talia Yarnitzky, Ayana Wiener, Rina Meidan, Masha Y. Niv
PLoS One. 2011; 6(11): e27990. Published online 2011 Nov 21. doi: 10.1371/journal.pone.0027990
PMCID:
PMC3221691
14.
Julie L.V. Shaw, Gillian S. Wills, Kai-Fai Lee, Paddy J. Horner, Myra O. McClure, Vikki M. Abrahams, Nick Wheelhouse, Henry N. Jabbour, Hilary O.D. Critchley, Gary Entrican, Andrew W. Horne
Am J Pathol. 2011 Jan; 178(1): 253–260. doi: 10.1016/j.ajpath.2010.11.019
PMCID:
PMC3016599
15.
Lindsay W. Cole, Yisrael Sidis, ChengKang Zhang, Richard Quinton, Lacey Plummer, Duarte Pignatelli, Virginia A. Hughes, Andrew A. Dwyer, Taneli Raivio, Frances J. Hayes, Stephanie B. Seminara, Celine Huot, Nathalie Alos, Phyllis Speiser, Akira Takeshita, Guy VanVliet, Simon Pearce, William F. Crowley, Jr., Qun-Yong Zhou, Nelly Pitteloud
J Clin Endocrinol Metab. 2008 Sep; 93(9): 3551–3559. Published online 2008 Jun 17. doi: 10.1210/jc.2007-2654
PMCID:
PMC2567850
16.
S. Brouillet, P. Hoffmann, S. Chauvet, A. Salomon, S. Chamboredon, F. Sergent, M. Benharouga, J. J. Feige, N. Alfaidy
Cell Mol Life Sci. 2012 May; 69(9): 1537–1550. Published online 2011 Dec 3. doi: 10.1007/s00018-011-0889-x
PMCID:
PMC11115148
17.
Taneli Raivio, Magdalena Avbelj, Mark J. McCabe, Christopher J. Romero, Andrew A. Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise C. Gregory, Daniel Diaczok, Vaitsa Tziaferi, Mariet W. Elting, Raja Padidela, Lacey Plummer, Cecilia Martin, Bihua Feng, Chengkang Zhang, Qun-Yong Zhou, Huaibin Chen, Moosa Mohammadi, Richard Quinton, Yisrael Sidis, Sally Radovick, Mehul T. Dattani, Nelly Pitteloud
J Clin Endocrinol Metab. 2012 Apr; 97(4): E694–E699. Published online 2012 Feb 8. doi: 10.1210/jc.2011-2938
PMCID:
PMC3319178
18.
Carine Monnier, Catherine Dodé, Ludovic Fabre, Luis Teixeira, Gilles Labesse, Jean-Philippe Pin, Jean-Pierre Hardelin, Philippe Rondard
Hum Mol Genet. 2009 Jan 1; 18(1): 75–81. Published online 2008 Sep 29. doi: 10.1093/hmg/ddn318
PMCID:
PMC3298864
19.
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Slawomir Wolczynski, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin
PLoS Genet. 2006 Oct; 2(10): e175. Prepublished online 2006 Aug 31. Published online 2006 Oct 20. doi: 10.1371/journal.pgen.0020175
PMCID:
PMC1617130
20.
Macarena Ruiz-Ferrer, Ana Torroglosa, Rocío Núñez-Torres, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego
PLoS One. 2011; 6(8): e23475. Published online 2011 Aug 12. doi: 10.1371/journal.pone.0023475
PMCID:
PMC3155560

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