Found: 21
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Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1324, doi. 10.1002/jbmr.3695
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- Article
An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 497, doi. 10.1002/jbmr.3624
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- Article
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
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- 2006
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- Publication type:
- journal 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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- Article
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 265
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- Article
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
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- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 442, doi. 10.1038/ejhg.2009.161
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- Article
Renal Chloride Channel, CLCN5, Mutations in Dent's Disease.
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- Journal of Bone & Mineral Research, 1999, v. 14, n. 9, p. 1536, doi. 10.1359/jbmr.1999.14.9.1536
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- Article
Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.
- Published in:
- 2009
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- Publication type:
- journal article
A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5386, doi. 10.1210/jc.2004-2520
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- Article
Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2688, doi. 10.1210/jcem.87.6.8607
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- Article
Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3233, doi. 10.1210/jcem.86.7.7688
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- Article
A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3343, doi. 10.1210/jcem.85.9.6840
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- Article
Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 10, p. 3615, doi. 10.1210/jcem.83.10.5180
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- Article
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.
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- Clinical Endocrinology, 2006, v. 65, n. 5, p. 598, doi. 10.1111/j.1365-2265.2006.02634.x
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- Article
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.
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- 2012
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- Publication type:
- journal article
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
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- 2005
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- Publication type:
- journal article
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
- Published in:
- Kidney International, 2003, v. 63, n. 4, p. 1426, doi. 10.1046/j.1523-1755.2003.00859.x
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- Article
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).
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- Human Mutation, 2010, v. 31, n. 1, p. E1089, doi. 10.1002/humu.21170
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- Article
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
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- Clinical Endocrinology, 2016, v. 84, n. 3, p. 463, doi. 10.1111/cen.12953
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- Article
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia F. M. Hannan et al. CaSR mutation in hyperparathyroidism
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- Clinical Endocrinology, 2010, v. 73, n. 6, p. 715, doi. 10.1111/j.1365-2265.2010.03870.x
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- Article
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 247, doi. 10.1093/hmg/8.2.247
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- Publication type:
- Article