Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].

Revue des maladies respiratoires·2023

MC3R links nutritional state to childhood growth and the timing of puberty.

Nature·2021

BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.

Human molecular genetics·2019

Three decades of occupational individual monitoring at the University of São Paulo.

Radiation protection dosimetry·2017

Germline CDH1 mutations in bilateral lobular carcinoma in situ.

British journal of cancer·2013

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

Scientifica·2013

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

The effect of beetroot juice (BRJ) supplementation on exercise-induced muscle damage (EIMD): a systematic review and dose-response meta-analysis of randomized controlled trials.

Annals of medicine and surgery (2012)·2026

Chronic gastrointestinal symptoms in adulthood revealing congenital intestinal malrotation with midgut volvulus: a case report.

Journal of surgical case reports·2026

Antiglide Plate vs Horizontally Oriented Parallel Screws in Vertical Shear Medial Malleolus Fracture.

Strategies in trauma and limb reconstruction·2026

Association of knee osseous morphometric parameters with degeneration and tear of the discoid lateral meniscus: a cross-sectional quantitative MRI study.

Quantitative imaging in medicine and surgery·2026

Development of a Diagnostic Tool for Elbow Instability Combining 4D-CT Imaging and Mechanical Load Analysis.

Biomedical engineering and computational biology·2026

Staged Reconstruction of Distal Femoral Osteosarcoma in a 10-year-old Girl using a Hybrid Endoprosthesis-Motorised Lengthening Nail Construct: A Case Report.

Strategies in trauma and limb reconstruction·2026

Related Experiment Videos

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

Related Concept Videos

[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].

MC3R links nutritional state to childhood growth and the timing of puberty.

BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.

Three decades of occupational individual monitoring at the University of São Paulo.

Germline CDH1 mutations in bilateral lobular carcinoma in situ.

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

The effect of beetroot juice (BRJ) supplementation on exercise-induced muscle damage (EIMD): a systematic review and dose-response meta-analysis of randomized controlled trials.

Chronic gastrointestinal symptoms in adulthood revealing congenital intestinal malrotation with midgut volvulus: a case report.

Antiglide Plate vs Horizontally Oriented Parallel Screws in Vertical Shear Medial Malleolus Fracture.

Association of knee osseous morphometric parameters with degeneration and tear of the discoid lateral meniscus: a cross-sectional quantitative MRI study.

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Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

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