Literature DB >> 10571700

A novel GNAS1 mutation, R201G, in McCune-albright syndrome.

M Riminucci1, L W Fisher, A Majolagbe, A Corsi, R Lala, C De Sanctis, P G Robey, P Bianco.   

Abstract

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Year:  1999        PMID： 10571700     DOI： 10.1359/jbmr.1999.14.11.1987

Source DB:  PubMed          Journal:  J Bone Miner Res        ISSN： 0884-0431            Impact factor:   6.741


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  13 in total

Review 1.  Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Authors:  Paraskevi Salpea; Constantine A Stratakis
Journal:  Mol Cell Endocrinol       Date:  2013-09-05       Impact factor: 4.102

2.  Quantitative analysis of activating alpha subunit of the G protein (Gsα) mutation by pyrosequencing in fibrous dysplasia and other bone lesions.

Authors:  Qi Liang; Minqi Wei; LeAnn Hodge; Julie C Fanburg-Smith; Ann Nelson; Markku Miettinen; Robert D Foss; Guanghua Wang
Journal:  J Mol Diagn       Date:  2011-03       Impact factor: 5.568

3.  A novel, complex heterozygous mutation within Gsalpha gene in patient with McCune-Albright syndrome.

Authors:  Huai-Dong Song; Feng-Ling Chen; Wen-Jing Shi; Shu Wang; Qun Zhang; Ren-Ming Hu; Jia-Lun Chen
Journal:  Endocrine       Date:  2002-07       Impact factor: 3.633

4.  Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome.

Authors:  Ji Zhou; Li-hao Sun; Bin Cui; Huai-dong Song; Xiao-ying Li; Guang Ning; Jian-min Liu
Journal:  Endocrine       Date:  2007-04       Impact factor: 3.633

5.  GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues.

Authors:  George Jour; Alifya Oultache; Justyna Sadowska; Talia Mitchell; John Healey; Khedoudja Nafa; Meera Hameed
Journal:  Appl Immunohistochem Mol Morphol       Date:  2016-10

6.  Intragenic suppression of a constitutively active allele of Gsα associated with McCune-Albright syndrome.

Authors:  Raquel Tobar-Rubin; Dahlia Sultan; Daniela Janevska; Kyle Turcic; Julie Carroll; Laura Ooms; Robin Pals-Rylaarsdam
Journal:  J Mol Endocrinol       Date:  2013-02-26       Impact factor: 5.098

7.  GNAS mutations are not detected in parosteal and low-grade central osteosarcomas.

Authors:  Carolina Salinas-Souza; Carlos De Andrea; Michel Bihl; Michal Kovac; Nischalan Pillay; Tim Forshew; Alice Gutteridge; Hongtao Ye; M Fernanda Amary; Roberto Tirabosco; Silvia Regina Caminada Toledo; Daniel Baumhoer; Adrienne M Flanagan
Journal:  Mod Pathol       Date:  2015-08-07       Impact factor: 7.842

8.  Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts.

Authors:  Stefanie Scheil-Bertram; Erich Hartwig; Silke Brüderlein; Ingo Melzner; Alexandra von Baer; Albert Roessner; Peter Möller; Michael Schulte
Journal:  Virchows Arch       Date:  2004-01-20       Impact factor: 4.064

9.  An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.

Authors:  M Riminucci; M T Collins; R Lala; A Corsi; P Matarazzo; P Gehron Robey; P Bianco
Journal:  Mol Pathol       Date:  2002-02

Review 10.  Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation.

Authors:  Alison M Boyce; Michael T Collins
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871
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