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Select item 108153641.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome

Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso

Genes (Basel) 2024 Jan; 15(1): 32. Published online 2023 Dec 25. doi: 10.3390/genes15010032

PMCID:: PMC10815364

Abstract Article PDF–1.5M

Select item 107979082.

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

Abstract Article PDF–1.0M

Select item 93660043.

Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome

Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, Marta Galbiati, Cristina Bugarin, Riccardo Masetti, Daniele Moratto, Marco Chiarini, Fabiola Guerra, Maria Iascone, Raffaele Badolato, Giovanni Cazzaniga, Charlotte Niemeyer, Christian Flotho, Andrea Biondi

Front Pediatr. 2022; 10: 935951. Published online 2022 Jul 28. doi: 10.3389/fped.2022.935951

PMCID:: PMC9366004

Abstract Article PDF–566K

Select item 86275604.

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

Abstract Article

Select item 81237595.

Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice‐site mutations: Two case reports and a literature review

Leila Cardoso, Víctor Galán‐Gómez, María Dolores Corral‐Sánchez, Antonio Pérez‐Martínez, Susana Riesco, María Isidoro‐García, Adela Escudero

Clin Case Rep. 2021 May; 9(5): e04260. Published online 2021 May 15. doi: 10.1002/ccr3.4260

PMCID:: PMC8123759

Abstract Article PDF–306K

Select item 61489946.

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

Abstract Article PDF–1.4M

Select item 42314157.

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

Abstract Article PDF–946K

Select item 33320548.

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

Abstract Article PDF–342K

Select item 27654659.

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

Abstract Article PDF–2.1M

Select item 1096622810.

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

Abstract Article PDF–751K

Select item 1069754911.

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

Abstract Article PDF–1.3M

Select item 1001957912.

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

Abstract Article PDF–3.3M

Select item 948424313.

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants

Francesco Baccelli, Davide Leardini, Edoardo Muratore, Daria Messelodi, Salvatore Nicola Bertuccio, Maria Chiriaco, Caterina Cancrini, Francesca Conti, Fausto Castagnetti, Lucia Pedace, Andrea Pession, Ayami Yoshimi, Charlotte Niemeyer, Marco Tartaglia, Franco Locatelli, Riccardo Masetti

Hum Genomics. 2022; 16: 40. Published online 2022 Sep 19. doi: 10.1186/s40246-022-00414-y

PMCID:: PMC9484243

Abstract Article PDF–1.8M

Select item 694173214.

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family

Anand Pathak, Alexander Pemov, Mary L. McMaster, Ramita Dewan, Sarangan Ravichandran, Evgenia Pak, Amalia Dutra, Hyo Jung Lee, Aurelie Vogt, Xijun Zhang, Meredith Yeager, Stacie Anderson, Martha Kirby, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Neil Caporaso, Mark H. Greene, Lynn R. Goldin, Douglas R. Stewart

Hum Genet. Author manuscript; available in PMC 2020 Jan 3.

Published in final edited form as: Hum Genet. 2015 Jul; 134(7): 775–787. Published online 2015 May 5. doi: 10.1007/s00439-015-1550-9

PMCID:: PMC6941732

Abstract Article PDF–934K

Select item 633770115.

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

Abstract Article PDF–49M

Select item 632638116.

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