KOL | ND PerrierMetabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA |
KOL Resume for ND Perrier
| Year | |
|---|---|
| 2002 | Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA |
ND Perrier: Influence Statistics
| Concept | World rank |
|---|---|
| parafibromin hyperparathyroidism | #60 |
| encoding parafibromin | #60 |
| hpt–jt | #62 |
| hyperparathyroidism jaw tumor | #64 |
| –jt | #65 |
| hrpt2 parafibromin | #76 |
| hrpt2 tumor | #86 |
| hyperparathyroidism – | #93 |
| – jaw | #98 |
Open the FULL List in Excel | |
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 |
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.
Tools
Is this your profile? Claim your profile Copy URL Embed Link to your profile |