Literature DB >> 11169560

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

D R Bertola1, C A Kim, A C Pereira, G F Mota, J E Krieger, I C Vieira, M Valente, M R Loreto, R P Magalhães, C H Gonzalez.   

Abstract

We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.

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Year:  2001        PMID： 11169560     DOI： 10.1002/1096-8628(20010122)98:3<230::aid-ajmg1080>3.0.co;2-k

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


  8 in total

1.  SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Authors:  Claire Beneteau; Hélène Cavé; Anne Moncla; Nathalie Dorison; Arnold Munnich; Alain Verloes; Bruno Leheup
Journal:  Eur J Hum Genet       Date:  2009-04-08       Impact factor: 4.246

2.  Giant cell lesion of the jaw as a presenting feature of Noonan syndrome.

Authors:  Bridget P Sinnott; Maya Patel
Journal:  BMJ Case Rep       Date:  2018-05-30

3.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

4.  Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Authors:  Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger
Journal:  J Hum Genet       Date:  2007-04-28       Impact factor: 3.172

Review 5.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

6.  Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Authors:  Thomas E Neumann; Judith Allanson; Ines Kavamura; Bronwyn Kerr; Giovanni Neri; Jacqueline Noonan; Viviana Cordeddu; Kate Gibson; Andreas Tzschach; Gabriele Krüger; Maria Hoeltzenbein; Timm O Goecke; Hans Gerd Kehl; Beate Albrecht; Klaudiusz Luczak; Maria M Sasiadek; Luciana Musante; Rohan Laurie; Hartmut Peters; Marco Tartaglia; Martin Zenker; Vera Kalscheuer
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

Review 7.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321

Review 8.  BRAF gene: From human cancers to developmental syndromes.

Authors:  Muhammad Ramzan Manwar Hussain; Mukhtiar Baig; Hussein Sheik Ali Mohamoud; Zaheer Ulhaq; Daniel C Hoessli; Ghaidaa Siraj Khogeer; Ranem Radwan Al-Sayed; Jumana Yousuf Al-Aama
Journal:  Saudi J Biol Sci       Date:  2014-10-23       Impact factor: 4.219
  8 in total

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