Literature DB >> 9475594

Neurofibromatosis-Noonan syndrome.

J C Carey.   

Abstract

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Year:  1998        PMID： 9475594     DOI： 10.1002/(sici)1096-8628(19980123)75:3<263::aid-ajmg7>3.0.co;2-r

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  9 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

Review 2.  Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Authors:  Marco Tartaglia; Bruce D Gelb
Journal:  Ann N Y Acad Sci       Date:  2010-10-19       Impact factor: 5.691

3.  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Authors:  M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen
Journal:  Am J Hum Genet       Date:  2006-12-08       Impact factor: 11.025

Review 4.  Noonan syndrome and clinically related disorders.

Authors:  Marco Tartaglia; Bruce D Gelb; Martin Zenker
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2011-02       Impact factor: 4.690

5.  Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.

Authors:  Ignacio Pascual-Castroviejo; Samuel-Ignacio Pascual-Pascual
Journal:  Childs Nerv Syst       Date:  2012-09-22       Impact factor: 1.475

6.  Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Authors:  D A Stevenson; D H Viskochil; A F Rope; J C Carey
Journal:  Clin Genet       Date:  2006-03       Impact factor: 4.438

7.  NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

Authors:  Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2005-10-26       Impact factor: 11.025

Review 8.  An Update on the Ophthalmologic Features in the Phakomatoses.

Authors:  Solmaz Abdolrahimzadeh; Andrea Maria Plateroti; Santi Maria Recupero; Alessandro Lambiase
Journal:  J Ophthalmol       Date:  2016-07-17       Impact factor: 1.909

9.  Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Authors:  Valentina Pinna; Paola Daniele; Giulio Calcagni; Lucio Mariniello; Roberta Criscione; Chiara Giardina; Francesca Romana Lepri; Hossein Hozhabri; Angela Alberico; Stefania Cavone; Annunziata Tina Morella; Roberta Mandile; Francesca Annunziata; Niccolò Di Giosaffatte; Maria Cecilia D'Asdia; Paolo Versacci; Rossella Capolino; Pietro Strisciuglio; Sandra Giustini; Daniela Melis; Maria Cristina Digilio; Marco Tartaglia; Bruno Marino; Alessandro De Luca
Journal:  Genes (Basel)       Date:  2019-09-04       Impact factor: 4.096
  9 in total

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