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Select item 105400761.

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W. Ted Brown, Leslie B. Gordon, Michael W. Glynn, Joel Singer, Laura Scott, Michael R. Erdos, Christiane M. Robbins, Tracy Y. Moses, Peter Berglund, Amalia Dutra, Evgenia Pak, Sandra Durkin, Antonei B. Csoka, Michael Boehnke, Thomas W. Glover, Francis S. Collins

Nature. Author manuscript; available in PMC 2023 Sep 29.

Published in final edited form as: Nature. 2003 May 15; 423(6937): 293–298. Published online 2003 Apr 25. doi: 10.1038/nature01629

PMCID:: PMC10540076

Abstract Article PDF–651K

Select item 102373482.

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation

Leslie B. Gordon, Wendy Norris, Sarah Hamren, Robert Goodson, Jessica LeClair, Joseph Massaro, Asya Lyass, Ralph B. D’Agostino, Sr, Kelsey Tuminelli, Mark W. Kieran, Monica E. Kleinman

Circulation. 2023 Jun 6; 147(23): 1734–1744. Published online 2023 Mar 15. doi: 10.1161/CIRCULATIONAHA.122.060002

PMCID:: PMC10237348

Abstract Article PDF–588K

Select item 79646393.

Imaging Characteristics of Cerebrovascular Arteriopathy and Stroke in Hutchinson-Gilford Progeria Syndrome

V.M. Silvera, L.B. Gordon, D.B. Orbach, S.E. Campbell, J.T. Machan, N.J. Ullrich

AJNR Am J Neuroradiol. 2013 May; 34(5): 1091–1097. doi: 10.3174/ajnr.A3341

PMCID:: PMC7964639

Abstract Article PDF–975K

Select item 66713214.

Pubertal Progression in Female Adolescents with Progeria

Maya Mundkur Greer, Monica E. Kleinman, Leslie B. Gordon, Joe Massaro, Ralph B. D’Agostino, Sr, Kristin Baltrusaitis, Mark W. Kieran, Catherine M. Gordon

J Pediatr Adolesc Gynecol. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: J Pediatr Adolesc Gynecol. 2018 Jun; 31(3): 238–241. Published online 2017 Dec 16. doi: 10.1016/j.jpag.2017.12.005

PMCID:: PMC6671321

Abstract Article PDF–66K

Select item 66521865.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Davor Lessel, Ayse Bilge Ozel, Susan E. Campbell, Abdelkrim Saadi, Martin F. Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J. Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A. Nickerson, Michael J. Bamshad, Jun Z. Li, Christian Kubisch, Thomas W. Glover, Leslie B. Gordon

Hum Genet. Author manuscript; available in PMC 2019 Jul 24.

Published in final edited form as: Hum Genet. 2018 Dec; 137(11-12): 921–939. Published online 2018 Nov 19. doi: 10.1007/s00439-018-1957-1

PMCID:: PMC6652186

Abstract Article PDF–645K

Select item 62883186.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

Am J Hum Genet. 2018 Dec 6; 103(6): 968–975. Published online 2018 Nov 7. doi: 10.1016/j.ajhg.2018.10.010

PMCID:: PMC6288318

Abstract Article PDF–1.0M

Select item 59333957.

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome

Leslie B. Gordon, Heather Shappell, Joe Massaro, Ralph B. D’Agostino, Sr, Joan Brazier, Susan E. Campbell, Monica E. Kleinman, Mark W. Kieran

JAMA. 2018 Apr 24; 319(16): 1687–1695. Published online 2018 Apr 24. doi: 10.1001/jama.2018.3264

PMCID:: PMC5933395

Abstract Article

Select item 58753328.

Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome

Ashwin Prakash, Leslie B. Gordon, Monica E. Kleinman, Ellen B. Gurary, Joseph Massaro, Ralph D’Agostino, Sr, Mark W. Kieran, Marie Gerhard-Herman, Leslie Smoot

JAMA Cardiol. 2018 Apr; 3(4): 326–334. Published online 2018 Feb 21. doi: 10.1001/jamacardio.2017.5235

PMCID:: PMC5875332

Abstract Article

Select item 56500629.

Hutchinson-Gilford Progeria Is a Skeletal Dysplasia

Catherine M. Gordon, Leslie B. Gordon, Brian D. Snyder, Ara Nazarian, Nicolle Quinn, Susanna Huh, Anita Giobbie-Hurder, Donna Neuberg, Robert Cleveland, Monica Kleinman, David T. Miller, Mark W. Kieran

J Bone Miner Res. Author manuscript; available in PMC 2017 Oct 20.

Published in final edited form as: J Bone Miner Res. 2011 Jul; 26(7): 1670–1679. doi: 10.1002/jbmr.392

PMCID:: PMC5650062

Abstract Article PDF–527K

Select item 538442210.

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon

J Med Genet. 2017 Mar; 54(3): 212–216. Published online 2016 Dec 5. doi: 10.1136/jmedgenet-2016-104295

PMCID:: PMC5384422

Abstract Article PDF–1.2M

Select item 494367711.

Clinical Trial of Protein Farnesylation Inhibitors Lonafarnib, Pravastatin and Zoledronic Acid in Children with Hutchinson-Gilford Progeria Syndrome

Leslie B. Gordon, Monica E Kleinman, Joe Massaro, Ralph B. D’Agostino, Sr., Heather Shappell, Marie Gerhard-Herman, Leslie B. Smoot, Catherine M. Gordon, Robert H. Cleveland, Ara Nazarian, Brian D. Snyder, Nicole J. Ullrich, V. Michelle Silvera, Marilyn G. Liang, Nicolle Quinn, David T. Miller, Susanna Y. Huh, Anne A. Dowton, Kelly Littlefield, Maya M. Greer, Mark W. Kieran

Circulation. Author manuscript; available in PMC 2017 Jul 12.

Published in final edited form as: Circulation. 2016 Jul 12; 134(2): 114–125. doi: 10.1161/CIRCULATIONAHA.116.022188

PMCID:: PMC4943677

Abstract Article PDF–1.1M

Select item 479510912.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Florian Barthélémy, Claire Navarro, Racha Fayek, Nathalie Da Silva, Patrice Roll, Sabine Sigaudy, Junko Oshima, Gisèle Bonne, Kyriaki Papadopoulou-Legbelou, Athanasios E Evangeliou, Martha Spilioti, Martine Lemerrer, Ron A Wevers, Eva Morava, Andrée Robaglia-Schlupp, Nicolas Lévy, Marc Bartoli, Annachiara De Sandre-Giovannoli

Eur J Hum Genet. 2015 Aug; 23(8): 1051–1061. Published online 2015 Feb 4. doi: 10.1038/ejhg.2014.239

PMCID:: PMC4795109

Abstract Article PDF–2.3M

Select item 467928513.

Coronary Artery Disease in a Werner Syndrome-Like Form of Progeria Characterized by Low Levels of Progerin, a Splice Variant of Lamin A

Fuki M. Hisama, Davor Lessel, Dru Leistritz, Katrin Friedrich, Kim L. McBride, Matthew T. Pastore, Gary S. Gottesman, Bidisha Saha, George M. Martin, Christian Kubisch, Junko Oshima

Am J Med Genet A. Author manuscript; available in PMC 2015 Dec 15.

Published in final edited form as: Am J Med Genet A. 2011 Dec; 0(12): 3002–3006. Published online 2011 Nov 7. doi: 10.1002/ajmg.a.34336

PMCID:: PMC4679285

Abstract Article PDF–383K

Select item 422068014.

A Prospective Study of Radiographic Manifestations in Hutchinson-Gilford Progeria Syndrome

Robert H. Cleveland, Leslie B. Gordon, Monica E. Kleinman, David T. Miller, Catherine M. Gordon, Brian D. Snyder, Ara Nazarian, Anita Giobbie-Hurder, Donna Neuberg, Mark W. Kieran

Pediatr Radiol. Author manuscript; available in PMC 2014 Nov 5.

Published in final edited form as: Pediatr Radiol. 2012 Sep; 42(9): 1089–1098. Published online 2012 Jul 1. doi: 10.1007/s00247-012-2423-1

PMCID:: PMC4220680

Abstract Article PDF–602K

Select item 408240415.

Impact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome

Leslie B. Gordon, Joe Massaro, Ralph B. D'Agostino, Sr., Susan E. Campbell, Joan Brazier, W. Ted Brown, Monica E Kleinman, Mark W. Kieran, Progeria Clinical Trials Collaborative

Circulation. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Circulation. 2014 Jul 1; 130(1): 27–34. Published online 2014 May 2. doi: 10.1161/CIRCULATIONAHA.113.008285

PMCID:: PMC4082404

Abstract Article PDF–547K

Select item 377653716.

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

Nicole J. Ullrich, Mark W. Kieran, David T. Miller, Leslie B. Gordon, Yoon-Jae Cho, V. Michelle Silvera, Anita Giobbie-Hurder, Donna Neuberg, Monica E. Kleinman

Neurology. 2013 Jul 30; 81(5): 427–430. doi: 10.1212/WNL.0b013e31829d85c0

PMCID:: PMC3776537

Abstract Article PDF–249K

Select item 368845017.

Otologic and Audiologic Manifestations of Hutchinson-Gilford Progeria Syndrome

Elizabeth Guardiani, Christopher Zalewski, Carmen Brewer, Melissa Merideth, Wendy Introne, Ann C.M Smith, Leslie Gordon, William Gahl, H. Jeffrey Kim

Laryngoscope. Author manuscript; available in PMC 2013 Jun 20.

Published in final edited form as: Laryngoscope. 2011 Oct; 121(10): 2250–2255. Published online 2011 Sep 6. doi: 10.1002/lary.22151

PMCID:: PMC3688450

Abstract Article PDF–1.4M

Select item 347861518.

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome

Leslie B. Gordon, Monica E. Kleinman, David T. Miller, Donna S. Neuberg, Anita Giobbie-Hurder, Marie Gerhard-Herman, Leslie B. Smoot, Catherine M. Gordon, Robert Cleveland, Brian D. Snyder, Brian Fligor, W. Robert Bishop, Paul Statkevich, Amy Regen, Andrew Sonis, Susan Riley, Christine Ploski, Annette Correia, Nicolle Quinn, Nicole J. Ullrich, Ara Nazarian, Marilyn G. Liang, Susanna Y. Huh, Armin Schwartzman, Mark W. Kieran

Proc Natl Acad Sci U S A. 2012 Oct 9; 109(41): 16666–16671. Published online 2012 Sep 24. doi: 10.1073/pnas.1202529109

PMCID:: PMC3478615

Abstract Article PDF–343K

Select item 342112119.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Janine Reunert, Rüdiger Wentzell, Michael Walter, Sibylle Jakubiczka, Martin Zenker, Thomas Brune, Stephan Rust, Thorsten Marquardt

Eur J Hum Genet. 2012 Sep; 20(9): 933–937. Published online 2012 Mar 14. doi: 10.1038/ejhg.2012.36

PMCID:: PMC3421121

Abstract Article PDF–314K

Select item 328423820.

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

V. Cenni, C. Capanni, M. Columbaro, M. Ortolani, M.R. D'Apice, G. Novelli, M. Fini, S. Marmiroli, E. Scarano, N.M. Maraldi, S. Squarzoni, S. Prencipe, G. Lattanzi

Eur J Histochem. 2011 Oct 19; 55(4): e36. Published online 2011 Oct 19. doi: 10.4081/ejh.2011.e36

Correction in:: Eur J Histochem. 2013 Oct 29; 57(4): e42.

PMCID:: PMC3284238

Abstract Article PDF–1.0M

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