PMC Articles for MedGen (Select 436629) - PMC

Susana Igreja, Harvinder S Chahal, Peter King, Graeme B Bolger, Umasuthan Srirangalingam, Leonardo Guasti, J Paul Chapple, Giampaolo Trivellin, Maria Gueorguiev, Katie Guegan, Karen Stals, Bernard Khoo, Ajith V Kumar, Sian Ellard, Ashley B Grossman, Márta Korbonits, the International FIPA Consortium

Hum Mutat. 2010 Aug; 31(8): 950–960. doi: 10.1002/humu.21292

PMCID:: PMC3065644

Abstract Article PDF–458K

Select item 31696267.

Requirement of the CXXC Motif of Novel Francisella Infectivity Potentiator Protein B FipB, and FipA in Virulence of F. tularensis subsp. tularensis

Aiping Qin, David W. Scott, Meaghan M. Rabideau, Emily A. Moore, Barbara J. Mann

PLoS One. 2011; 6(9): e24611. Published online 2011 Sep 8. doi: 10.1371/journal.pone.0024611

PMCID:: PMC3169626

Abstract Article PDF–423K

Select item 65336208.

Clinical and Genetic Characterization of Pituitary Gigantism: An International Collaborative Study in 208 Patients

Liliya Rostomyan, Adrian F Daly, Patrick Petrossians, Emil Nachev, Anurag R Lila, Anne-Lise Lecoq, Beatriz Lecumberri Santamaria, Giampaolo Trivellin, Roberto Salvatori, Andreas Moraitis, Ian MacMurray Holdaway, Dianne Kranenburg, Maria Chiara Zatelli, Nuria Palacios García, Cecile Nozieres, Margaret Zacharin, Tapani Ebeling, Marja Ojaniemi, Liudmila Rozhinskaya, Elisa Verrua, Marie-Lise Jaffrain-Rea, Silvia Filipponi, Daria Gusakova, Vyacheslav Pronin, Jerome Yves Bertherat, Zhanna Belaya, Irena Ilovaiskaya, Mona Sahnoun-Fathallah, Caroline Jung-Sievers, Gunter K. Stalla, Emilie Castermans, Jean-Hubert Caberg, Ekaterina Sorkina, Renata Simona Auriemma, Sachin Mittal, Maria Kareva, Philippe A. Lysy, Philippe Emy, Ernesto De Menis, Catherine S. Choong, Giovanna Mantovani, Vincent Bours, Wouter De Herder, Thierry Brue, Anne Barlier, Sebastian JCMM Neggers, Sabina Zacharieva, Philippe Chanson, Nalini Samir Shah, Constantine A. Stratakis, Luciana A. Naves, Albert M Beckers

Endocr Relat Cancer. Author manuscript; available in PMC 2019 May 24.

Published in final edited form as: Endocr Relat Cancer. 2015 Oct; 22(5): 745–757. Published online 2015 Jul 17. doi: 10.1530/ERC-15-0320

PMCID:: PMC6533620

Abstract Article PDF–634K

Select item 60489879.

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase)

Marie Helene Schernthaner-Reiter, Giampaolo Trivellin, Constantine A Stratakis

Hum Mol Genet. 2018 Aug 1; 27(15): 2604–2613. Published online 2018 May 2. doi: 10.1093/hmg/ddy166

PMCID:: PMC6048987

Abstract Article PDF–559K

Select item 607390810.

In vivo bioassay to test the pathogenicity of missense human AIP variants

Elena Daniela Aflorei, Benjamin Klapholz, Chenghao Chen, Serban Radian, Anca Neluta Dragu, Nina Moderau, Chrisostomos Prodromou, Paulo S Ribeiro, Ralf Stanewsky, Márta Korbonits

J Med Genet. 2018 Aug; 55(8): 522–529. Published online 2018 Apr 9. doi: 10.1136/jmedgenet-2017-105191

PMCID:: PMC6073908

Abstract Article PDF–1.6M

Select item 549748711.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

Luciana A. Naves, Adrian F. Daly, Luiz Augusto Dias, Bo Yuan, Juliano Coelho Oliveira Zakir, Gustavo Barcellos Barra, Leonor Palmeira, Chiara Villa, Giampaolo Trivellin, Armindo Jreige, Júnior, Florêncio Figueiredo Cavalcante Neto, Pengfei Liu, Natalia S. Pellegata, Constantine A. Stratakis, James R. Lupski, Albert Beckers

Endocrine. Author manuscript; available in PMC 2017 Jul 5.

Published in final edited form as: Endocrine. 2016 Feb; 51(2): 236–244. Published online 2015 Nov 25. doi: 10.1007/s12020-015-0804-6

PMCID:: PMC5497487

Abstract Article PDF–1.4M

Select item 543984112.

Familial Isolated Pituitary Adenomas: From Genetics to Therapy

Federica Guaraldi, Roberto Salvatori

Clin Transl Sci. 2011 Feb; 4(1): 55–62. Published online 2011 Feb 23. doi: 10.1111/j.1752-8062.2010.00254.x

PMCID:: PMC5439841

Abstract Article PDF–631K

Select item 515483113.

Genetics of Gigantism and Acromegaly

Fady Hannah-Shmouni, Giampaolo Trivellin, Constantine A. Stratakis

Growth Horm IGF Res. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Growth Horm IGF Res. 2016 Oct-Dec; 30-31: 37–41. Published online 2016 Aug 10. doi: 10.1016/j.ghir.2016.08.002

PMCID:: PMC5154831

Abstract Article PDF–115K

Select item 457016914.

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

Laura C. Hernández-Ramírez, Plamena Gabrovska, Judit Dénes, Karen Stals, Giampaolo Trivellin, Daniel Tilley, Francesco Ferraù, Jane Evanson, Sian Ellard, Ashley B. Grossman, Federico Roncaroli, Mônica R. Gadelha, Márta Korbonits

J Clin Endocrinol Metab. 2015 Sep; 100(9): E1242–E1254. Published online 2015 Jul 17. doi: 10.1210/jc.2015-1869

PMCID:: PMC4570169

Abstract Article

Select item 450708315.

Do the Aryl Hydrocarbon Receptor Interacting Protein Variants (Q228K and Q307R) Play a Role in Patients with Familial and Sporadic Hormone-Secreting Pituitary Adenomas?

Sema Yarman, Yeliz Duvarci Ogret, Fatma Savran Oguz

Genet Test Mol Biomarkers. 2015 Jul 1; 19(7): 394–398. doi: 10.1089/gtmb.2014.0333

PMCID:: PMC4507083

Abstract Article PDF–194K

Select item 443340016.

X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, Liliya Rostomyan, Misu Lee, Fabio R Faucz, Bo Yuan, Catherine S Choong, Jean-Hubert Caberg, Elisa Verrua, Luciana Ansaneli Naves, Tim D Cheetham, Jacques Young, Philippe A Lysy, Patrick Petrossians, Andrew Cotterill, Nalini Samir Shah, Daniel Metzger, Emilie Castermans, Maria Rosaria Ambrosio, Chiara Villa, Natalia Strebkova, Nadia Mazerkina, Stéphan Gaillard, Gustavo Barcelos Barra, Luis Augusto Casulari, Sebastian J. Neggers, Roberto Salvatori, Marie-Lise Jaffrain-Rea, Margaret Zacharin, Beatriz Lecumberri Santamaria, Sabina Zacharieva, Ee Mun Lim, Giovanna Mantovani, Maria Chaira Zatelli, Michael T Collins, Jean-François Bonneville, Martha Quezado, Prashant Chittiboina, Edward H. Oldfield, Vincent Bours, Pengfei Liu, Wouter De Herder, Natalia Pellegata, James R. Lupski, Adrian F. Daly, Constantine A. Stratakis

Endocr Relat Cancer. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Endocr Relat Cancer. 2015 Jun; 22(3): 353–367. Published online 2015 Feb 24. doi: 10.1530/ERC-15-0038

PMCID:: PMC4433400

Abstract Article PDF–3.2M

Select item 418770217.

FipB, an Essential Virulence Factor of Francisella tularensis subsp. tularensis, Has Dual Roles in Disulfide Bond Formation

Aiping Qin, Yan Zhang, Melinda E. Clark, Meaghan M. Rabideau, Luis R. Millan Barea, Barbara J. Mann

J Bacteriol. 2014 Oct; 196(20): 3571–3581. doi: 10.1128/JB.01359-13

PMCID:: PMC4187702

Abstract Article PDF–1.8M

Select item 332881818.

Clinical and genetic aspects of familial isolated pituitary adenomas

Vladimir Vasilev, Adrian Daly, Luciana Naves, Sabina Zacharieva, Albert Beckers

Clinics (Sao Paulo) 2012 Apr; 67(Suppl 1): 37–41. doi: 10.6061/clinics/2012(Sup01)08

PMCID:: PMC3328818

Abstract Article PDF–172K

Select item 294460519.

Sequence of pNL194, a 79.3-Kilobase IncN Plasmid Carrying the bla_VIM-1 Metallo-β-Lactamase Gene in Klebsiella pneumoniae

V. Miriagou, C. C. Papagiannitsis, S. D. Kotsakis, A. Loli, E. Tzelepi, N. J. Legakis, L. S. Tzouvelekis

Antimicrob Agents Chemother. 2010 Oct; 54(10): 4497–4502. Published online 2010 Jul 26. doi: 10.1128/AAC.00665-10

PMCID:: PMC2944605

Abstract Article PDF–779K

Select item 286267120.

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

Rodrigo A. Toledo, Berenice B. Mendonca, Maria Candida B. V. Fragoso, Iberê C. Soares, Madson Q. Almeida, Michelle B. Moraes, Delmar M. Lourenço, Jr, Venâncio A. F. Alves, Marcello D. Bronstein, Sergio P. A. Toledo

Clinics (Sao Paulo) 2010 Apr; 65(4): 407–415. doi: 10.1590/S1807-59322010000400010

PMCID:: PMC2862671

Abstract Article PDF–4.8M

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