Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Keywords

Noonan syndrome, Pathogenesis, Medicine, Pathology, Internal medicine

References

• Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndromeAl Carino — 2008
• Multiple Symmetrical Moles, with Psychic and Somatic Infantilism and Genital Hypoplasia: First Male Case of a New SyndromeE J Moynahan — 1962
• A CASE OF NOONAN SYNDROME WITH PULMONARY AND ABDOMINAL LYMPHANGIECTASIASavaş Öztürk, Kıvanç Çefle, Şükrü Palanduz — 2000
• Noonan‐like syndrome mutations in PTPN11 in patients diagnosed with cherubismToghrul Jafarov, N Ferimazova, Ernst Reichenberger — 2005
• Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeMarco Tartaglia, Ernest L. Mehler, Rosalie Goldberg — 2001
• Properties of MEKs, the kinases that phosphorylate and activate the extracellular signal-regulated kinases.Chenhao Zheng, Kun‐Liang Guan — 1993
• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, L Pennacchio, Chen Zhao — 2006
• The protein tyrosine phosphatase, Shp2, is required for the complete activation of the RAS/MAPK pathway by brain‐derived neurotrophic factorJohn Easton, Amanda R. Royer, David S. Middlemas — 2006
• K-ras is an essential gene in the mouse with partial functional overlap with N-ras.Leisa Johnson, Doron C. Greenbaum, Karen Cichowski — 1997
• A growing family of guanine nucleotide exchange factors is responsible for activation of Ras-family GTPases.Lawrence A. Quilliam, John F. Rebhun, Ariel F. Castro — 2002
• rasH mutants deficient in GTP bindingChanning J. Der, Bin‐Tao Pan, Geoffrey M. Cooper — 1986
• First trimester isolated fetal nuchal lucency: significance and outcomeClaudia S. Reynders, Susan P. Pauker, Beryl R. Benacerraf — 1997
• Two novel and one recurrent PTPN11 mutations in LEOPARD syndromeRie Yoshida, Toshiro Nagai, Tomonobu Hasegawa — 2004
• The role of the PH domain in the signal‐dependent membrane targeting of SosRui Chen, Senena Corbalán‐García, Dafna Bar‐Sagi — 1997
• Isolation of ras GTP-binding mutants using an in situ colony-binding assay.Larry A. Feig, Bin‐Tao Pan, Thomas M. Roberts — 1986
• Identification of Shp-2 as a Stat5A Phosphatase*Yuhong Chen, Renren Wen, Shoua Yang — 2003
• Endothelial apoptosis in Braf-deficient miceLeszek Wojnowski, Anne Zimmer, Thomas W. Beck — 1997
• Spontaneous chylothorax in Noonan's syndromeElizabeth Fisher, E. Weiss, K. Michals — 1982
• Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso — 2006
• Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.Mignon L. Loh, Simone Martinelli, Viviana Cordeddu — 2005

Cited by

• [Rasopathies: developmental disorders that predispose to cancer and skin manifestations].Ángela Hernández Martín, Antonio Torrelo Fernández — 2011
• Cognition and emotion in adults with Noonan syndrome. A neuropsychological perspectiveP.A.M. Wingbermühle — 2013
• Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like: investigação clínica e molecularAmanda Brasil de Freitas — 2011
• Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signalingGiuseppe Gaipa, Cristina Bugarin, Paola Cianci — 2015
• SHP2 sails from physiology to pathology.Mylène Tajan, Audrey de Rocca Serra, Philippe Valet — 2015
• Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations.Linda Moskovszky, Bernadine Idowu, Richard M. Taylor — 2013
• The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndromeSarah Joyce, Kristiana Gordon, Glen Brice — 2015
• Роль наследственности в происхождении врожденных деформаций грудной клетки (обзор литературы)И. А. Комолкин, А. П. Афанасьев, Д. В. Щеголев — 2012
• A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation—a review of the literatureMichaela Němčíková, Šárka Vejvalková, Filip Fencl — 2016
• Prenatal screening strategies, long-term outcome of children with marked changes in maternal screening tests and the most common syndromic heart anomalies in EstoniaKai Muru — 2014
• Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsMarco Tartaglia, Bruce D. Gelb — 2010
• Das Noonan-SyndromD. Brummer, A. Spiegel, Birgit Abler — 2011
• Genetic and Clinical Investigation of Noonan Spectrum DisordersSara Ekvall — 2012
• Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in DevelopmentDawn H. Siegel, Julianne A. Mann, Alfons Krol — 2012
• Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessmentAnna Papadopoulou, Michalis Issakidis, Evangelia Gole — 2011
• The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic ApproachBruce R. Korf, Reza Ahmadian, Judith Allanson — 2015
• Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11Jin‐Lan Chen, Xinxia Zhu, Tianli Zhao — 2014
• Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.M. Cristina Digilio, Laura Bernardini, Federica Consoli — 2013
• LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesClaudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli — 2014
• Prevalence of Sequence Variants in the RAS-Mitogen Activated Protein Kinase Signaling Pathway in Pre-Adolescent Children With Hypertrophic CardiomyopathyJuan Pablo Kaski, Petros Syrris, Adam Shaw — 2012

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