Literature DB >> 15996221

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

T Jafarov, N Ferimazova, E Reichenberger.   

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Year:  2005        PMID: 15996221     DOI: 10.1111/j.1399-0004.2005.00475.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  16 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

Review 4.  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

5.  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

Review 6.  Benign fibro-osseous lesions of the craniofacial complex. A review.

Authors:  Roy Eversole; Lan Su; Samir ElMofty
Journal:  Head Neck Pathol       Date:  2008-05-13

Review 7.  Benefits of molecular pathology in the diagnosis of musculoskeletal disease : Part II of a two-part review: bone tumors and metabolic disorders.

Authors:  Adrienne M Flanagan; David Delaney; Paul O'Donnell
Journal:  Skeletal Radiol       Date:  2009-08-11       Impact factor: 2.199

8.  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 9.  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

10.  Neurofibromatosis presenting with a cherubism phenotype.

Authors:  C I van Capelle; P H G Hogeman; C J M van der Sijs-Bos; B G F Heggelman; B Idowu; P J Slootweg; A R M Wittkampf; A M Flanagan
Journal:  Eur J Pediatr       Date:  2006-11-21       Impact factor: 3.183

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