Found: 32
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GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 6, p. 907, doi. 10.1002/jbmr.4803
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
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- Publication type:
- Article
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα<sub>11</sub> Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 1, p. 32, doi. 10.1002/jbmr.3241
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- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
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- Publication type:
- Article
A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1200, doi. 10.1002/jbmr.2778
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- Publication type:
- Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105
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- Publication type:
- Article
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 2028, doi. 10.1093/hmg/ddq084
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- Publication type:
- Article
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492
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- Publication type:
- Article
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
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- European Journal of Endocrinology, 2022, v. 187, n. 1, p. 111, doi. 10.1530/EJE-21-0730
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- Publication type:
- Article
Protein assays for diagnosis of Wiskott–Aldrich syndrome and X-linked thrombocytopenia.
- Published in:
- British Journal of Haematology, 2001, v. 113, n. 4, p. 861, doi. 10.1046/j.1365-2141.2001.02832.x
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- Publication type:
- Article
Rapid protein-based assays for the diagnosis of T<sup>–</sup>B<sup>+</sup> severe combined immunodeficiency.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 3, p. 671, doi. 10.1046/j.1365-2141.2001.02578.x
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- Publication type:
- Article
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
- Published in:
- 2020
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- Publication type:
- journal article
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
- Published in:
- 2019
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- Publication type:
- journal article
Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.
- Published in:
- Journal of Pathology, 2013, v. 229, n. 3, p. 441, doi. 10.1002/path.4139
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- Publication type:
- Article
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
- Published in:
- 2009
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- Publication type:
- journal article
Routine genetic screening with a multi-gene panel in patients with pheochromocytomas.
- Published in:
- Endocrine (1355008X), 2018, v. 59, n. 1, p. 175, doi. 10.1007/s12020-017-1310-9
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- Publication type:
- Article
Do patients with incidentally discovered bilateral adrenal nodules represent an early form of ARMC5-mediated bilateral macronodular hyperplasia?
- Published in:
- Endocrine (1355008X), 2016, v. 53, n. 3, p. 801, doi. 10.1007/s12020-016-0988-4
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- Publication type:
- Article
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
- Published in:
- 2015
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- Publication type:
- journal article
ARMC5 Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia.
- Published in:
- 2014
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- Publication type:
- Journal Article
CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma.
- Published in:
- 2014
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- Publication type:
- journal article
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
- Published in:
- 2014
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- Publication type:
- journal article
A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3512, doi. 10.1210/jc.2009-2532
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- Publication type:
- Article
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.
- Published in:
- 2004
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- Publication type:
- journal article
Cell division cycle protein 73 homolog ( CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
- Published in:
- 2010
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- Publication type:
- Other
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 255, doi. 10.1002/humu.1188
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- Publication type:
- Article
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1199
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 11, p. 1, doi. 10.1210/jendso/bvaa142
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- Publication type:
- Article
Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.
- Published in:
- European Journal of Immunology, 2000, v. 30, n. 6, p. 1691, doi. 10.1002/1521-4141(200006)30:6<1691::AID-IMMU1691>3.0.CO;2-K
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- Publication type:
- Article
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
- Published in:
- Journal of Molecular Medicine, 2006, v. 84, n. 3, p. 203, doi. 10.1007/s00109-005-0019-z
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- Publication type:
- Article
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 21, p. 3720, doi. 10.1093/hmg/ddy263
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- Publication type:
- Article
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype--phenotype correlations, codon bias and dominant-negative effects.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5079, doi. 10.1093/hmg/ddv226
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- Publication type:
- Article
Confusing genes: a patient with MEN2A and Cushing's disease.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 6, p. 966, doi. 10.1111/cen.12072
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- Publication type:
- Article