Literature DB >> 6144286

Genetic aspects of multiple endocrine neoplasia.

R N Schimke.   

Abstract

There are three well-delineated multiple endocrine neoplasia syndromes, all of which are inherited as autosomal dominant traits. Available evidence suggests that still more such entities exist. Despite intensive study, the nature of the genetic defect that results in these syndromes remains obscure.

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Year:  1984        PMID： 6144286     DOI： 10.1146/annurev.me.35.020184.000325

Source DB:  PubMed          Journal:  Annu Rev Med        ISSN： 0066-4219            Impact factor:   13.739


  19 in total

Review 1.  Multiple endocrine neoplasia type 2 and the practice of molecular medicine.

Authors:  C Eng
Journal:  Rev Endocr Metab Disord       Date:  2000-11       Impact factor: 6.514

2.  Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism.

Authors:  M P Cosma; M Cardone; F Carlomagno; V Colantuoni
Journal:  Mol Cell Biol       Date:  1998-06       Impact factor: 4.272

3.  Ret-proto-oncogene analysis in medullary thyroid carcinoma.

Authors:  D A O'Keeffe; A D Hill; K Sheahan; F Ryan; D Barton; R J Fitzgerald; E W McDermott; N J O'Higgins
Journal:  Ir J Med Sci       Date:  1998 Oct-Dec       Impact factor: 1.568

Review 4.  The RET proto-oncogene: a challenge to our understanding of disease pathogenesis.

Authors:  T Kusafuka; P Puri
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

Review 5.  "Asymptomatic" and symptomatic primary hyperparathyroidism.

Authors:  J A Fischer
Journal:  Clin Investig       Date:  1993-07

6.  Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families.

Authors:  M Rossel; I Schuffenecker; M Schlumberger; C Bonnardel; E Modigliani; P Gardet; J Navarro; Y Luo; G Romeo; G Lenoir
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

7.  The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred.

Authors:  R M Landsvater; A G Rombouts; G J te Meerman; J M Schillhorn-van Veen; M J Berends; R A Geerdink; A Struyvenberg; C H Buys; C J Lips
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

8.  Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.

Authors:  Beatriz González-Yebra; María Elena Medrano; Alejandra Mantilla; Virginia Palma; Carmen Colin; Dulce María Hernández; José Tapia; Brian Dawson; Mauricio Salcedo
Journal:  Endocr Pathol       Date:  2003       Impact factor: 3.943

9.  Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma.

Authors:  E Chiefari; D Russo; D Giuffrida; G A Zampa; D Meringolo; F Arturi; I Chiodini; D Bianchi; M Attard; V Trischitta; R Bruno; P Giannasio; A Pontecorvi; S Filetti
Journal:  J Endocrinol Invest       Date:  1998-06       Impact factor: 4.256

10.  Medullary thyroid cancer: RET testing of an archival material.

Authors:  Christian Godballe; Gita Jørgensen; Anne-Marie Gerdes; Annelise S Krogdahl; Anne Tybjaerg-Hansen; Finn C Nielsen
Journal:  Eur Arch Otorhinolaryngol       Date:  2009-10-13       Impact factor: 2.503
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