PMC Links for Books (Select 1497174) - PMC

Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’Amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari

Brain Sci. 2021 Feb; 11(2): 233. Published online 2021 Feb 13. doi: 10.3390/brainsci11020233

PMCID:: PMC7918671

Abstract Article PDF–1.1M

Select item 78525745.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Marco Tartaglia, Martin Zenker

Eur J Hum Genet. 2021 Jan; 29(1): 51–60. Published online 2020 Aug 12. doi: 10.1038/s41431-020-00708-6

PMCID:: PMC7852574

Abstract Article PDF–1.2M

Select item 76825366.

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

Léa Linglart, Bruce D. Gelb

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Mar; 184(1): 73–80. Published online 2020 Feb 5. doi: 10.1002/ajmg.c.31765

PMCID:: PMC7682536

Abstract Article PDF–860K

Select item 74603277.

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli, Angela Mastronuzzi

Diagnostics (Basel) 2020 Aug; 10(8): 582. Published online 2020 Aug 12. doi: 10.3390/diagnostics10080582

PMCID:: PMC7460327

Abstract Article PDF–1.2M

Select item 69166488.

Hypertrophic Cardiomyopathy in Noonan syndrome treated by MEK-inhibition

Gregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, Yves Théoret, Stephan Waldmüller, Gesa Wiegand, Bruce D. Gelb, Martin Zenker, Marie-Ange Delrue, Michael Hofbeck

J Am Coll Cardiol. Author manuscript; available in PMC 2020 May 7.

Published in final edited form as: J Am Coll Cardiol. 2019 May 7; 73(17): 2237–2239. doi: 10.1016/j.jacc.2019.01.066

PMCID:: PMC6916648

Article PDF–445K

Select item 65620059.

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin-ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E. Davis, Nicholas Katsanis, Yoko Aoki

Am J Hum Genet. 2019 Jun 6; 104(6): 1233–1240. Published online 2019 May 23. doi: 10.1016/j.ajhg.2019.04.014

PMCID:: PMC6562005

Abstract Article PDF–1.5M

Select item 656200310.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca R. Lepri, Elaine Suk-Ying Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Cuturilo, Neda S. Kazemein Jasemi, Radovan Dvorsky, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloes, Mohammad R. Ahmadian, Marco Tartaglia, Martin Zenker

Am J Hum Genet. 2019 Jun 6; 104(6): 1223–1232. Published online 2019 May 23. doi: 10.1016/j.ajhg.2019.04.013

PMCID:: PMC6562003

Abstract Article PDF–1.4M

Select item 632638111.

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Andrew R. Grant, Brandon J. Cushman, Hélène Cavé, Mitchell W. Dillon, Bruce D. Gelb, Karen W. Gripp, Jennifer A. Lee, Heather Mason-Suares, Katherine A. Rauen, Marco Tartaglia, Lisa M. Vincent, Martin Zenker

Hum Mutat. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Hum Mutat. 2018 Nov; 39(11): 1485–1493. doi: 10.1002/humu.23624

PMCID:: PMC6326381

Abstract Article PDF–94K

Select item 631292012.

Growth hormone therapy in patients with Noonan syndrome

Go Hun Seo, Han-Wook Yoo

Ann Pediatr Endocrinol Metab. 2018 Dec; 23(4): 176–181. Published online 2018 Dec 31. doi: 10.6065/apem.2018.23.4.176

PMCID:: PMC6312920

Abstract Article PDF–267K

Select item 630501413.

Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome

Othmane Miri, Nicolas Bonnet, Philippe Lysy, Naima Loucheur, René Gayito, Pierre Louis Docquier

Case Rep Orthop. 2018; 2018: 7698052. Published online 2018 Dec 6. doi: 10.1155/2018/7698052

PMCID:: PMC6305014

Abstract Article PDF–1.2M

Select item 610555514.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B. Everman, Koen L. van Gassen, Suleyman Gulsuner, Margaret H. Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald-McGinn, Can Thi Bich Ngoc, Amir Peleg, Elizabeth R. Roeder, R. Curtis Rogers, Lena Sagi-Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena A. Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2018 Nov 22.

Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1175–1185. Published online 2018 Feb 22. doi: 10.1038/gim.2017.249

PMCID:: PMC6105555

Abstract Article PDF–1.1M

Select item 606104615.

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

Dorothée C. van Trier, Ineke van der Burgt, Renske W. Draaijer, Johannes R. M. Cruysberg, Cees Noordam, Jos M. Draaisma

Eur J Pediatr. 2018; 177(8): 1293–1298. Published online 2018 Jun 9. doi: 10.1007/s00431-018-3183-1

PMCID:: PMC6061046

Abstract Article PDF–387K

Select item 552007716.

Genotype and phenotype spectrum of NRAS germline variants

Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, Sixto García-Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

Eur J Hum Genet. 2017 Jul; 25(7): 823–831. Published online 2017 May 3. doi: 10.1038/ejhg.2017.65

PMCID:: PMC5520077

Abstract Article PDF–942K

Select item 538642217.

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen, Matthew S Lebo

Eur J Hum Genet. 2017 Apr; 25(4): 509–511. Published online 2017 Jan 18. doi: 10.1038/ejhg.2016.202

PMCID:: PMC5386422

Abstract Article PDF–350K

Select item 533396218.

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

Erin M. Higgins, J. Martijn Bos, Heather Mason-Suares, David J. Tester, Jaeger P. Ackerman, Calum A. MacRae, Katia Sol-Church, Karen W. Gripp, Raul Urrutia, Michael J. Ackerman

JCI Insight. 2017 Mar 9; 2(5): e91225. Published online 2017 Mar 9. doi: 10.1172/jci.insight.91225

PMCID:: PMC5333962

Abstract Article PDF–1.6M

Select item 513433119.

A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E. Timms, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 2.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2237–2247. Published online 2016 Jun 5. doi: 10.1002/ajmg.a.37781

PMCID:: PMC5134331

Abstract Article PDF–1.1M

Select item 460401920.

Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome

Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, Len A. Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lissewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Marketa Vlckova, Eva Seemanova, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloes, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia

Hum Mutat. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Hum Mutat. 2015 Nov; 36(11): 1080–1087. Published online 2015 Aug 3. doi: 10.1002/humu.22834

PMCID:: PMC4604019

Abstract Article PDF–661K

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