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GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.

Journal article

Zecchin D. et al, (2023), J Invest Dermatol

Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1

Journal article

Cuny T. et al, (2023), The Journal of Clinical Endocrinology & Metabolism

Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism

Conference paper

Zecchin D. et al, (2023), JOURNAL OF INVESTIGATIVE DERMATOLOGY, 143, S139 - S139

miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.

Journal article

Kooblall KG. et al, (2022), Endocr Relat Cancer, 29, 557 - 568

Aberrant calcium signalling and systemic hypocalcaemia in GNAQ/11 mosaic diseases

Conference paper

Zecchin D. et al, (2022), BRITISH JOURNAL OF DERMATOLOGY, 187, 92 - 92

Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy

Conference paper

Zecchin D. et al, (2022), CANCER RESEARCH, 82

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1

Conference paper

Sastre A. et al, (2021), HORMONE RESEARCH IN PAEDIATRICS, 94, 44 - 45

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Journal article

Sastre A. et al, (2021), N Engl J Med, 385, 189 - 191

Aberrant methylation underlies insulin gene expression in human insulinoma.

Journal article

Karakose E. et al, (2020), Nat Commun, 11

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