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    • ND Perrier

      ND Perrier

      Metabolic 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

      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

       

      Prominent publications by ND Perrier

      KOL-Index: 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

      Key People For Jaw Tumor

      Top KOLs in the world
      #1
      Rajesh V Thakker
      multiple endocrine neoplasia type mutational analysis
      #2
      Stephen J Marx∘∘
      multiple endocrine men1 gene primary hyperparathyroidism
      #3
      Branca Maria Cavaco
      thyroid cancer hrpt2 gene tert promoter mutations
      #4
      William F Simonds
      multiple endocrine parathyroid cancer beta gamma
      #5
      Bin Tean Teh
      multiple endocrine renal cell gene expression
      #6
      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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