Associated Papers
Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.
Pandiar D et al.
Journal of Bone and Mineral Metabolism, 2025
Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
Xue J et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.
Gorukmez O et al.
Human Heredity, 2025
Exploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Jot K et al.
Pathology, Research and Practice, 2024
Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications.
Shen B et al.
Current Eye Research, 2024
KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas.
Chasseloup F et al.
European Journal of Endocrinology, 2024
Genetic characterization of intramuscular myxomas.
Hatchett WJ et al.
Pathology Oncology Research : Por, 2024
A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.
Kim HY et al.
International Journal of Molecular Sciences, 2023
Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.
Aggarwal C et al.
Jama Oncology, 2019
A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome.
Dejkhamron P et al.
Hormone Research in Paediatrics, 2019
[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions].
Ostertag H et al.
Der Pathologe, 2018
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.
Shin SJ et al.
Scientific Reports, 2017
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.
Jour G et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2016
McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.
Agopiantz M et al.
Annales D'endocrinologie, 2016
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
Turcic K et al.
Journal of Molecular Endocrinology, 2014
Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
Salpea P et al.
Molecular and Cellular Endocrinology, 2014
Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts.
Kanda M et al.
Gut, 2013
Intragenic suppression of a constitutively active allele of Gsα associated with McCune-Albright syndrome.
Tobar-Rubin R et al.
Journal of Molecular Endocrinology, 2013
The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases.
Lee SE et al.
Human Pathology, 2012
Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome.
Carney JA et al.
The American Journal of Surgical Pathology, 2011
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
Klagge A et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010
Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model.
Chanson P et al.
Annales D'endocrinologie, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone.
Kuznetsov SA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha.
Michienzi S et al.
Human Molecular Genetics, 2007
A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.
Idowu BD et al.
Histopathology, 2007
G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.
Weinstein LS
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Genetics of McCune-Albright syndrome.
de Sanctis L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2006
A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue.
Sargin H et al.
Endocrine Journal, 2006
[Clinical and molecular aspects of the ACTH-independent bilateral macronodular adrenal hyperplasia].
Antonini SR et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
Lumbroso S et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.
Karadag A et al.
Nucleic Acids Research, 2004
Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts.
Scheil-Bertram S et al.
Virchows Archiv : an International Journal of Pathology, 2004
Gs(alpha) mutations and imprinting defects in human disease.
Weinstein LS et al.
Annals of the New York Academy of Sciences, 2002
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Weinstein LS et al.
Endocrine Reviews, 2001
Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.
Riminucci M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia.
Collins MT et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
Activating and inactivating mutations in the human GNAS1 gene.
Aldred MA et al.
Human Mutation, 2000
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
Riminucci M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999