Literature DB >> 17321449

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.

Jan de Lange1, Merel C van Maarle, Hans P van den Akker, Egbert J W Redeker.   

Abstract

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Year:  2006        PMID： 17321449     DOI： 10.1016/j.tripleo.2006.05.012

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod        ISSN： 1079-2104


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  10 in total

1.  SH3BP2 mutations potentiate osteoclastogenesis via PLCγ.

Authors:  Steven A Lietman; Lihong Yin; Michael A Levine
Journal:  J Orthop Res       Date:  2010-11       Impact factor: 3.494

2.  Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.

Authors:  L Preda; O Dinca; A Bucur; C Dragomir; E Severin
Journal:  Mol Syndromol       Date:  2010-06-09

3.  Increased expression of NFATc1 in giant cell lesions of the jaws, cherubism and brown tumor of hyperparathyroidism.

Authors:  Alessandra Pires Duarte; Carolina Cavaliéri Gomes; Ricardo Santiago Gomez; Fabrício Rezende Amaral
Journal:  Oncol Lett       Date:  2011-03-21       Impact factor: 2.967

4.  Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.

Authors:  Desirée Deconte; Elisa Pacheco Estima Correia; Géssica Haubert; Vinicius de Souza; Jamile Dutra Correia; Marcia Angelica Peter Maahs; Paulo Ricardo Gazzola Zen; Marilu Fiegenbaum; Rafael Fabiano Machado Rosa
Journal:  J Pediatr Genet       Date:  2020-02-28

Review 5.  Cherubism: best clinical practice.

Authors:  Maria E Papadaki; Steven A Lietman; Michael A Levine; Bjorn R Olsen; Leonard B Kaban; Ernst J Reichenberger
Journal:  Orphanet J Rare Dis       Date:  2012-05-24       Impact factor: 4.123

Review 6.  The role of SH3BP2 in the pathophysiology of cherubism.

Authors:  Ernst J Reichenberger; Michael A Levine; Bjorn R Olsen; Maria E Papadaki; Steven A Lietman
Journal:  Orphanet J Rare Dis       Date:  2012-05-24       Impact factor: 4.123

7.  Odontogenic tumors and giant cell lesions of jaws--a nine year study.

Authors:  Surekha Venkata Mullapudi; Uday Kumar Putcha; Sesikeran Boindala
Journal:  World J Surg Oncol       Date:  2011-07-05       Impact factor: 2.754

8.  Treatment of cherubism with salmon calcitonin: a case report.

Authors:  Osman A Etoz; Dogan Dolanmaz; Omer Gunhan
Journal:  Eur J Dent       Date:  2011-08

9.  Severe Cherubism Treated with Curettage, Osteotomy, and Bony Repositioning: A Case Series of Three Patients.

Authors:  Whitney Moss; Giovanna Pires; Rehan Zahid; Richard Tyrell; Irfan Rhemtulla; Barbu Gociman
Journal:  Plast Reconstr Surg Glob Open       Date:  2022-01-27

10.  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
  10 in total

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