Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
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Title
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
Authors
Keywords
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Journal
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 102, Issue 5, Pages 1726-1733
Publisher
The Endocrine Society
Online
2017-04-19
DOI
10.1210/jc.2016-3836
References
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Related references
Note: Only part of the references are listed.- Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism
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- Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
- (2015) Bergithe E. Oftedal et al. IMMUNITY
- Hypoparathyroidism and central diabetes insipidus: in search of the link
- (2014) Ori Eyal et al. EUROPEAN JOURNAL OF PEDIATRICS
- Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization
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- FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
- (2013) Sheila Unger et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prevalence and Clinical Associations of Calcium-Sensing Receptor and NALP5 Autoantibodies in Finnish APECED Patients
- (2013) E. Helen Kemp et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Germline Mutations Affecting Gα11 in Hypoparathyroidism
- (2013) Michael Mannstadt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
- (2013) M. Andrew Nesbit et al. NEW ENGLAND JOURNAL OF MEDICINE
- Autoimmunity in 2011
- (2012) Carlo Selmi CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
- Epidemiology of environmental exposures and human autoimmune diseases: Findings from a National Institute of Environmental Health Sciences Expert Panel Workshop
- (2012) Frederick W. Miller et al. JOURNAL OF AUTOIMMUNITY
- Prevalence and Significance of NALP5 Autoantibodies in Patients with Idiopathic Hypoparathyroidism
- (2012) Neeraj Tomar et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
- (2011) Cinzia Mazza et al. CLINICAL IMMUNOLOGY
- Aire's Partners in the Molecular Control of Immunological Tolerance
- (2010) Jakub Abramson et al. CELL
- AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED
- (2010) Sara Cervato et al. CLINICAL ENDOCRINOLOGY
- Novel sequence variation ofAIREand detection of interferon-ω antibodies in early infancy
- (2009) Beáta Tóth et al. CLINICAL ENDOCRINOLOGY
- Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen
- (2008) Mohammad Alimohammadi et al. NEW ENGLAND JOURNAL OF MEDICINE
- B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: A therapeutic approach for APECED patients
- (2008) I. Gavanescu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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