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Select item 107979081.

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia

Pediatr Rheumatol Online J. 2024; 22: 17. Published online 2024 Jan 18. doi: 10.1186/s12969-023-00939-z

PMCID:: PMC10797908

Article PDF–1.0M

Select item 86275602.

The role of USP7 in the Shoc2-ERK1/2 signaling axis and Noonan-like syndrome with loose anagen hair

Patricia Wilson, Lina Abdelmoti, Rebecca Norcross, Eun Ryoung Jang, Malathy Palayam, Emilia Galperin

J Cell Sci. 2021 Nov 1; 134(21): jcs258922. Published online 2021 Nov 5. doi: 10.1242/jcs.258922

PMCID:: PMC8627560

Article

Select item 63377013.

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome

HyeIn Jang, Erin Oakley, Marie Forbes-Osborne, Melissa V Kesler, Rebecca Norcross, Ann C Morris, Emilia Galperin

Hum Mol Genet. 2019 Feb 1; 28(3): 501–514. Published online 2018 Oct 16. doi: 10.1093/hmg/ddy366

PMCID:: PMC6337701

Article PDF–49M

Select item 61489944.

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan, Syuan-Yu Hong

BMC Neurol. 2018; 18: 150. Published online 2018 Sep 20. doi: 10.1186/s12883-018-1157-6

PMCID:: PMC6148994

Article PDF–1.4M

Select item 42314155.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

Donatella Capalbo, Maria Giuseppa Scala, Daniela Melis, Giorgia Minopoli, Nicola Improda, Loredana Palamaro, Claudio Pignata, Mariacarolina Salerno

Ital J Pediatr. 2012; 38: 48. Published online 2012 Sep 20. doi: 10.1186/1824-7288-38-48

PMCID:: PMC4231415

Article PDF–946K

Select item 33320546.

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

Giovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, Elisabetta Flex, Claudio Isella, Daniela Cantarella, Davide Corá, Nicoletta Chiesa, Nicoletta Crescenzio, Fabio Timeus, Giuseppe Merla, Laura Mazzanti, Giuseppe Zampino, Cesare Rossi, Margherita Silengo, Marco Tartaglia, Enzo Medico

Hum Mutat. 2012 Apr; 33(4): 703–709. Published online 2012 Jan 17. doi: 10.1002/humu.22026

PMCID:: PMC3332054

Article PDF–342K

Select item 27654657.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, Len A. Pennacchio, Avi Ma'ayan, Anna Sarkozy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, Maria C. Digilio, Simone Martinelli, Elisabetta Flex, Francesca Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni B. Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia

Nat Genet. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Nat Genet. 2009 Sep; 41(9): 1022–1026. Published online 2009 Aug 16. doi: 10.1038/ng.425

PMCID:: PMC2765465

Article PDF–2.1M

Select item 109662288.

Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy

Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E. F. Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B. Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski

ESC Heart Fail. 2024 Apr; 11(2): 923–936. Published online 2024 Jan 13. doi: 10.1002/ehf2.14637

PMCID:: PMC10966228

Article PDF–751K

Select item 106975499.

Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant

Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu

Am J Case Rep. 2023; 24: e942377-1–e942377-10. Published online 2023 Nov 29. doi: 10.12659/AJCR.942377

PMCID:: PMC10697549

Article PDF–1.3M

Select item 1001957910.

Shoc2 controls ERK1/2-driven neural crest development by balancing components of the extracellular matrix

Rebecca G. Norcross, Lina Abdelmoti, Eric C. Rouchka, Kalina Andreeva, Olivia Tussey, Daileen Landestoy, Emilia Galperin

Dev Biol. Author manuscript; available in PMC 2023 Mar 16.

Published in final edited form as: Dev Biol. 2022 Dec; 492: 156–171. Published online 2022 Oct 18. doi: 10.1016/j.ydbio.2022.10.010

PMCID:: PMC10019579

Article PDF–3.3M

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

Article PDF–94K

Select item 440735612.

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain

Marianna Spatola, Christian Wider, Thierry Kuntzer, Alexandre Croquelois

BMC Neurol. 2015; 15: 55. Published online 2015 Apr 16. doi: 10.1186/s12883-015-0310-8

PMCID:: PMC4407356

Article PDF–2.9M

Select item 421326513.

A novel SHOC2 variant in Rasopathy

Vickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, John A. Phillips, III, Emilia Galperin

Hum Mutat. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Hum Mutat. 2014 Nov; 35(11): 1290–1294. Published online 2014 Sep 11. doi: 10.1002/humu.22634

PMCID:: PMC4213265

Article PDF–950K

Select item 391503114.

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