Literature DB >> 15689434

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek.   

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Year:  2005        PMID： 15689434      PMCID： PMC1735986          DOI： 10.1136/jmg.2004.024091

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  23 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

2.  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

3.  Cherubism misdiagnosed as giant cell tumor: a case report and review of literature.

Authors:  Yang Jiao; Mi Zhou; Yaowu Yang; Jun Zhou; Xiaohong Duan
Journal:  Int J Clin Exp Med       Date:  2015-03-15

4.  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

Review 5.  Giant cell lesions in noonan syndrome: case report and review of the literature.

Authors:  Andreia Bufalino; Manoela Carrera; Roman Carlos; Ricardo D Coletta
Journal:  Head Neck Pathol       Date:  2010-04-11

6.  Shp2 and Pten have antagonistic roles in myeloproliferation but cooperate to promote erythropoiesis in mammals.

Authors:  Helen He Zhu; Xiaolin Luo; Kaiqing Zhang; Jian Cui; Huifang Zhao; Zhongzhong Ji; Zhicheng Zhou; Jufang Yao; Lifan Zeng; Kaihong Ji; Wei-Qiang Gao; Zhong-Yin Zhang; Gen-Sheng Feng
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-12       Impact factor: 11.205

7.  PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.

Authors:  Rebecca J Chan; Gen-Sheng Feng
Journal:  Blood       Date:  2006-10-19       Impact factor: 22.113

8.  Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Authors:  Rim Louati; N Bouayed Abdelmoula; Imen Trabelsi; Dorra Abid; Christina Lissewski; Najla Kharrat; Samir Kamoun; Martin Zenker; Tarek Rebai
Journal:  Mol Syndromol       Date:  2014-05-23

9.  Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Authors:  Reinhard E Friedrich; Jozef Zustin; Andreas M Luebke; Thorsten Rosenbaum; Martin Gosau; Christian Hagel; Felix K Kohlrusch; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

Review 10.  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
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