Prominent publications by ND Perrier

KOL Index score: 9869

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

Sample of concepts for which ND Perrier is among the top experts in the world.
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

Key People For Jaw Tumor

Top KOLs in the world
Rajesh V Thakker
multiple endocrine neoplasia type mutational analysis
Stephen J Marx∘∘
multiple endocrine men1 gene primary hyperparathyroidism
Branca Maria Cavaco
thyroid cancer hrpt2 gene tert promoter mutations
William F Simonds
multiple endocrine parathyroid cancer beta gamma
Bin Tean Teh
multiple endocrine renal cell gene expression
Maurine R Hobbs
nitric oxide severe malaria tanzanian children

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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Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA

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