Prominent publications by ND Perrier
We report here the identification of a gene associated with the hyperparathyroidism–jaw tumor (HPT–JT) syndrome. A single locus associated with HPT–JT (HRPT2) was previously mapped to chromosomal region 1q25–q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT–JT. The proposed ...
|Known for Jaw Tumor | Encoding Parafibromin | Suppressor Proteins | Gene Hyperparathyroidism | Mutation Screening|
ND Perrier: Influence Statistics
|hyperparathyroidism jaw tumor||#64|
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Key People For Jaw Tumor
ND Perrier:Expert Impact
Concepts for whichND Perrierhas direct influence:Jaw tumor, Hrpt2 parafibromin, Hyperparathyroidism jaw tumor, Encoding parafibromin, Jaw tumor syndrome, Sporadic parathyroid tumors, Cystic features, Parafibromin hyperparathyroidism.
ND Perrier:KOL impact
Concepts related to the work of other authors for whichfor which ND Perrier has influence:Parathyroid carcinoma, Parafibromin expression, Hrpt2 gene, Tumor suppressor, Paf1 complex, Multiple endocrine, Ossifying fibroma.
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