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Select item 39150311.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola

BMC Med Genet. 2014; 15: 14. Published online 2014 Jan 23. doi: 10.1186/1471-2350-15-14

PMCID:: PMC3915031

Abstract Article PDF–2.0M

Select item 18948282.

Noonan syndrome and related disorders: Alterations in growth and puberty

Jacqueline A. Noonan

Rev Endocr Metab Disord. 2006 Dec; 7(4): 251–255. Published online 2006 Dec 20. doi: 10.1007/s11154-006-9021-1

PMCID:: PMC1894828

Abstract Article PDF–106K

Select item 19333113.

Detection of a Novel and Highly Divergent Coronavirus from Asian Leopard Cats and Chinese Ferret Badgers in Southern China

B. Q. Dong, W. Liu, X. H. Fan, D. Vijaykrishna, X. C. Tang, F. Gao, L. F. Li, G. J. Li, J. X. Zhang, L. Q. Yang, L. L. M. Poon, S. Y. Zhang, J. S. M. Peiris, G. J. D. Smith, H. Chen, Y. Guan

J Virol. 2007 Jul; 81(13): 6920–6926. Published online 2007 Apr 25. doi: 10.1128/JVI.00299-07

PMCID:: PMC1933311

Abstract Article PDF–972K

Select item 23946744.

Deletion of Ptpn11 (Shp2) in Cardiomyocytes Causes Dilated Cardiomyopathy via Effects on the Erk/MAPK and RhoA Signaling Pathways

Maria I. Kontaridis, Wentian Yang, Kendra K. Bence, Darragh Cullen, Bo Wang, Natalya Bodyak, Qingen Ke, Aleksander Hinek, Peter M. Kang, Ronglih Liao, Benjamin G. Neel

Circulation. Author manuscript; available in PMC 2008 May 23.

Published in final edited form as: Circulation. 2008 Mar 18; 117(11): 1423–1435. Published online 2008 Mar 3. doi: 10.1161/CIRCULATIONAHA.107.728865

PMCID:: PMC2394674

Abstract Article PDF–6.2M

Select item 24674085.

Leopard syndrome

Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola

Orphanet J Rare Dis. 2008; 3: 13. Published online 2008 May 27. doi: 10.1186/1750-1172-3-13

PMCID:: PMC2467408

Abstract Article PDF–965K

Select item 26123736.

Comparative Analysis of Complete Genome Sequences of Three Avian Coronaviruses Reveals a Novel Group 3c Coronavirus

Patrick C. Y. Woo, Susanna K. P. Lau, Carol S. F. Lam, Kenneth K. Y. Lai, Yi Huang, Paul Lee, Geraldine S. M. Luk, Kitman C. Dyrting, Kwok-Hung Chan, Kwok-Yung Yuen

J Virol. 2009 Jan; 83(2): 908–917. Published online 2008 Oct 29. doi: 10.1128/JVI.01977-08

PMCID:: PMC2612373

Abstract Article PDF–1022K

Select item 28637087.

Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling

Thomas Edouard, Jean-Philippe Combier, Audrey Nédélec, Sophie Bel-Vialar, Mélanie Métrich, Francoise Conte-Auriol, Stanislas Lyonnet, Béatrice Parfait, Maithé Tauber, Jean-Pierre Salles, Frank Lezoualc'h, Armelle Yart, Patrick Raynal

Mol Cell Biol. 2010 May; 30(10): 2498–2507. Published online 2010 Mar 22. doi: 10.1128/MCB.00646-09

PMCID:: PMC2863708

Abstract Article PDF–1.5M

Select item 28850018.

Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome

Xonia Carvajal-Vergara, Ana Sevilla, Sunita L. D’Souza, Yen-Sin Ang, Christoph Schaniel, Dung-Fang Lee, Lei Yang, Aaron D. Kaplan, Eric D. Adler, Roye Rozov, YongChao Ge, Ninette Cohen, Lisa J. Edelmann, Betty Chang, Avinash Waghray, Jie Su, Sherly Pardo, Klaske D. Lichtenbelt, Marco Tartaglia, Bruce Gelb, Ihor R. Lemischka

Nature. Author manuscript; available in PMC 2010 Dec 10.

Published in final edited form as: Nature. 2010 Jun 10; 465(7299): 808–812. doi: 10.1038/nature09005

PMCID:: PMC2885001

Abstract Article PDF–868K

Select item 29862209.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline Noonan, Viviana Cordeddu, Kate Gibson, Andreas Tzschach, Gabriele Krüger, Maria Hoeltzenbein, Timm O Goecke, Hans Gerd Kehl, Beate Albrecht, Klaudiusz Luczak, Maria M Sasiadek, Luciana Musante, Rohan Laurie, Hartmut Peters, Marco Tartaglia, Martin Zenker, Vera Kalscheuer

Eur J Hum Genet. 2009 Apr; 17(4): 420–425. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.188

PMCID:: PMC2986220

Abstract Article PDF–195K

Select item 304937710.

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

Talita M. Marin, Kimberly Keith, Benjamin Davies, David A. Conner, Prajna Guha, Demetrios Kalaitzidis, Xue Wu, Jessica Lauriol, Bo Wang, Michael Bauer, Roderick Bronson, Kleber G. Franchini, Benjamin G. Neel, Maria I. Kontaridis

J Clin Invest. 2011 Mar 1; 121(3): 1026–1043. Published online 2011 Feb 21. doi: 10.1172/JCI44972

PMCID:: PMC3049377

Abstract Article PDF–5.0M

Select item 305819911.

Noonan syndrome and clinically related disorders

Marco Tartaglia, Bruce D. Gelb, Martin Zenker

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2011 Feb; 25(1): 161–179. doi: 10.1016/j.beem.2010.09.002

PMCID:: PMC3058199

Abstract Article PDF–801K

Select item 322164212.

Xeroderma pigmentosum

Alan R Lehmann, David McGibbon, Miria Stefanini

Orphanet J Rare Dis. 2011; 6: 70. Published online 2011 Nov 1. doi: 10.1186/1750-1172-6-70

PMCID:: PMC3221642

Abstract Article PDF–827K

Select item 341730713.

The differential diagnosis of familial lentiginosis syndromes

Maya B. Lodish, Constantine A. Stratakis

Fam Cancer. Author manuscript; available in PMC 2012 Sep 1.

Published in final edited form as: Fam Cancer. 2011 Sep; 10(3): 481–490. doi: 10.1007/s10689-011-9446-x

PMCID:: PMC3417307

Abstract Article PDF–958K

Select item 1097028614.

Spectrum of Mutations in PTPN11 in Russian Cohort

Anna Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oksana Ryzhkova

Genes (Basel) 2024 Mar; 15(3): 345. Published online 2024 Mar 7. doi: 10.3390/genes15030345

PMCID:: PMC10970286

Abstract Article PDF–942K

Select item 402813015.

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Anna Sarkozy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, Maria C. Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Lepri, Valentina Petrangeli, Maria L. Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni B. Ferrero, Margherita Cirillo Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia

Hum Mutat. Author manuscript; available in PMC 2014 May 20.

Published in final edited form as: Hum Mutat. 2009 Apr; 30(4): 695–702. doi: 10.1002/humu.20955

PMCID:: PMC4028130

Abstract Article PDF–523K

Select item 404624516.

Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction

Susanne Ulm, Wei Liu, Min Zi, Hoyee Tsui, Sanjoy K. Chowdhury, Shogo Endo, Yasushi Satoh, Sukhpal Prehar, Ruoxi Wang, Elizabeth J. Cartwright, Xin Wang

J Mol Cell Cardiol. 2014 Jul; 72(100): 104–116. doi: 10.1016/j.yjmcc.2014.03.002

PMCID:: PMC4046245

Abstract Article

Select item 408104917.

Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations

Zhi-Hong Yu, Ruo-Yu Zhang, Chad D. Walls, Lan Chen, Sheng Zhang, Li Wu, Sijiu Liu, Zhong-Yin Zhang

Biochemistry. 2014 Jul 1; 53(25): 4136–4151. Published online 2014 Jun 8. doi: 10.1021/bi5002695

PMCID:: PMC4081049

Abstract Article PDF–3.1M

Select item 432671218.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Dennis Döcker, Max Schubach, Moritz Menzel, Christiane Spaich, Heinz-Dieter Gabriel, Martin Zenker, Deborah Bartholdi, Saskia Biskup

Eur J Hum Genet. 2015 Mar; 23(3): 409–412. Published online 2014 Jun 18. doi: 10.1038/ejhg.2014.118

PMCID:: PMC4326712

Abstract Article PDF–493K

Select item 441508319.

High-purity enrichment of functional cardiovascular cells from human iPS cells

Bo Lin, Jong Kim, Yanxin Li, Haiying Pan, Xonia Carvajal-Vergara, Guy Salama, Tao Cheng, Yong Li, Cecilia W. Lo, Lei Yang

Cardiovasc Res. 2012 Aug 1; 95(3): 327–335. Published online 2012 Jun 6. doi: 10.1093/cvr/cvs185

PMCID:: PMC4415083

Abstract Article PDF–693K

Select item 460701320.

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen, Otto Westphal, Göran Annerén, Marie-Louise Bondeson

BMC Med Genet. 2015; 16: 95. Published online 2015 Oct 14. doi: 10.1186/s12881-015-0239-1

PMCID:: PMC4607013

Abstract Article PDF–1018K

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