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Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

Stevenson M. et al, (2024)

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.

Kooblall KG. et al, (2024), JBMR Plus, 8

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

Zecchin D. et al, (2024), J Invest Dermatol, 144, 811 - 819.e4

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1

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

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome

Kooblall KG. et al, (2023), JBMR Plus

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

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.

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

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

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

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Stevenson M. et al, (2022), J Endocr Soc, 6

Thoracic ultrasound competence for ultrasound guided pleural procedures: The creation and validation of an assessment tool for use in the certification of basic thoracic ultrasound competence.

McCracken DJ. et al, (2022), J Clin Ultrasound

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

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

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures

Zhou W. et al, (2022), JBMR Plus

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

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

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

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

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

Hannan FM. et al, (2021), Hum Mol Genet

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.

Lines KE. et al, (2020), J Endocr Soc, 4

Aberrant methylation underlies insulin gene expression in human insulinoma.

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

Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3

Hannan FM. et al, (2020)

Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression.

Kooblall KG. et al, (2020), J Bone Miner Res

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