McCune-Albright syndrome and disorders due to activating mutations of GNAS1. (Q36971542)

17 August 2017

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title

McCune-Albright syndrome and disorders due to activating mutations of GNAS1. (English)

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17 August 2017

Alejandro Diaz

1

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17 August 2017

Marco Danon

series ordinal

2

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17 August 2017

John Crawford

series ordinal

3

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17 August 2017

1 August 2007

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Journal of Pediatric Endocrinology and Metabolism

17 August 2017

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17 August 2017

20

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17 August 2017

8

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17 August 2017

853-880

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Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.

17 August 2017

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Dynamics of ovarian function in an adult woman with McCune--Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

McCune-Albright syndrome: a longitudinal clinical study of 32 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Activating GNAS1 gene mutations in patients with premature thelarche.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

McCune-Albright syndrome in a male child:A clinical and endocrinologic enigma

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Thyroid abnormalities in the McCune-Albright syndrome: ultrasonography and hormonal studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

G protein gene mutations in patients with multiple endocrinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

McCune Albright syndrome and hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Café au lait spots: the pediatrician's perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Parathyroid hormone-related protein in the aetiology of fibrous dysplasia of bone in the McCune Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Imaging of McCune-Albright syndrome using bone single photon emission computed tomography

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the McCune Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Secondary central precocious puberty in a girl with McCune-Albright syndrome responds to treatment with GnRH analogue.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Medroxyprogesterone acetate and dexamethasone are competitive inhibitors of different human steroidogenic enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Final height attainment and gonadal function in girls with precocious puberty treated with cyproterone acetate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Selective estrogen receptor modulators: clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Tamoxifen treatment of progressive precocious puberty in a patient with McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Lack of efficacy of fadrozole in treating precocious puberty in girls with the McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

The current status of aromatase inhibitors in the management of breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Four-year treatment with octreotide-long-acting repeatable in 110 acromegalic patients: predictive value of short-term results?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Growth hormone hypersecretion in a girl with McCune-Albright syndrome: comparison with controls and response to a dose of long-acting somatostatin analog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Treatment of acromegaly with a somatostatin analog in a patient with McCune-Albright syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Long-term treatment of acromegaly with pegvisomant, a growth hormone receptor antagonist

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Cotreatment of acromegaly with a somatostatin analog and a growth hormone receptor antagonist

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Resistance to cabergoline as compared with bromocriptine in hyperprolactinemia: prevalence, clinical definition, and therapeutic strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Catecholamine utilization in specific rat brain nuclei after short-term hyperprolactinaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

McCune-Albright Syndrome with Multiple Bilateral Cafe au Lait Spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

Alopecia with fibrous dysplasia and osteomas of skin. A sign of polyostotic fibrous dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2007.20.8.853

10.1515/JPEM.2007.20.8.853

21 January 2018

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DOI

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release_brk5ejesnfcgrlpffmlkg6y4oq

17 August 2017

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24 November 2022

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