Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetics of McCune-Albright syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

de Sanctis Luisa, Delmastro Lisa, Russo Maria Chiara, Matarazzo Patrizia, Lala Roberto, de Sanctis Carlo

Abstract excerpt

McCune-Albright syndrome (MAS) is a rare proteiform disease due to postzygotic, somatic mutations at codon R201 of the GNAS1 gene that results in cellular mosaicism. Different methods have been used in the molecular analysis of DNA samples from several tissues of patients with one or more MAS signs, with various mutation detection rates. We review data from the literature to investigate whether patient inclusion...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromogranins
Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrous Dysplasia, Polyostotic

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Mosaicism

Share to Patient Selection

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 16789620
DOI: 10.1515/jpem.2006.19.s2.577

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of McCune-Albright syndrome.PMID 16789620Read ↗

Searching for somatic mutations in McCune–Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samplesSemantic proximity Read ↗

McCune-Albright Syndrome: A Detailed Pathological and Genetic Analysis of Disease Effects in an Adult PatientSemantic proximity Read ↗

Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.Semantic proximity Read ↗

McCune-Albright syndrome and disorders due to activating mutations of GNAS1.Semantic proximity Read ↗

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort.Semantic proximity Read ↗

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).Semantic proximity Read ↗

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.Semantic proximity Read ↗

[Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome].Semantic proximity Read ↗

Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome.Semantic proximity Read ↗

Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome .Semantic proximity Read ↗

A Novel GNAS1 Mutation, R201G, in McCune–Albright SyndromeSemantic proximity Read ↗

Multidisciplinary approach and clinical management of McCune-Albright syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.