Literature DB >> 19728513

Use of mutation analysis in endocrine neoplasia syndromes.

Shern L Chew1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19728513      PMCID： PMC4952507          DOI： 10.7861/clinmedicine.9-4-362

Source DB:  PubMed          Journal:  Clin Med (Lond)        ISSN： 1470-2118            Impact factor:   2.659


× No keyword cloud information.
  11 in total

1.  Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Authors:  B E Baysal; R E Ferrell; J E Willett-Brozick; E C Lawrence; D Myssiorek; A Bosch; A van der Mey; P E Taschner; W S Rubinstein; E N Myers; C W Richard; C J Cornelisse; P Devilee; B Devlin
Journal:  Science       Date:  2000-02-04       Impact factor: 47.728

Review 2.  Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes?

Authors:  Camilo Jiménez; Gilbert Cote; Andrew Arnold; Robert F Gagel
Journal:  J Clin Endocrinol Metab       Date:  2006-05-30       Impact factor: 5.958

3.  Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

Authors:  D Astuti; F Latif; A Dallol; P L Dahia; F Douglas; E George; F Sköldberg; E S Husebye; C Eng; E R Maher
Journal:  Am J Hum Genet       Date:  2001-06-12       Impact factor: 11.025

Review 4.  Guidelines for diagnosis and therapy of MEN type 1 and type 2.

Authors:  M L Brandi; R F Gagel; A Angeli; J P Bilezikian; P Beck-Peccoz; C Bordi; B Conte-Devolx; A Falchetti; R G Gheri; A Libroia; C J Lips; G Lombardi; M Mannelli; F Pacini; B A Ponder; F Raue; B Skogseid; G Tamburrano; R V Thakker; N W Thompson; P Tomassetti; F Tonelli; S A Wells; S J Marx
Journal:  J Clin Endocrinol Metab       Date:  2001-12       Impact factor: 5.958

5.  HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Authors:  J D Carpten; C M Robbins; A Villablanca; L Forsberg; S Presciuttini; J Bailey-Wilson; W F Simonds; E M Gillanders; A M Kennedy; J D Chen; S K Agarwal; R Sood; M P Jones; T Y Moses; C Haven; D Petillo; P D Leotlela; B Harding; D Cameron; A A Pannett; A Höög; H Heath; L A James-Newton; B Robinson; R J Zarbo; B M Cavaco; W Wassif; N D Perrier; I B Rosen; U Kristoffersson; P D Turnpenny; L-O Farnebo; G M Besser; C E Jackson; H Morreau; J M Trent; R V Thakker; S J Marx; B T Teh; C Larsson; M R Hobbs
Journal:  Nat Genet       Date:  2002-11-18       Impact factor: 38.330

6.  Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Authors:  Natalia S Pellegata; Leticia Quintanilla-Martinez; Heide Siggelkow; Elenore Samson; Karin Bink; Heinz Höfler; Falko Fend; Jochen Graw; Michael J Atkinson
Journal:  Proc Natl Acad Sci U S A       Date:  2006-10-09       Impact factor: 11.205

7.  Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

Authors:  S Niemann; U Müller
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

8.  Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Authors:  L M Mulligan; J B Kwok; C S Healey; M J Elsdon; C Eng; E Gardner; D R Love; S E Mole; J K Moore; L Papi
Journal:  Nature       Date:  1993-06-03       Impact factor: 49.962

9.  Evidence of MEN-2 in the original description of classic pheochromocytoma.

Authors:  Hartmut P H Neumann; Alexander Vortmeyer; Dieter Schmidt; Martin Werner; Zoran Erlic; Alberto Cascon; Birke Bausch; Andrzej Januszewicz; Charis Eng
Journal:  N Engl J Med       Date:  2007-09-27       Impact factor: 91.245

10.  Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma.

Authors:  Henri J L M Timmers; Anna Kozupa; Clara C Chen; Jorge A Carrasquillo; Alexander Ling; Graeme Eisenhofer; Karen T Adams; Daniel Solis; Jacques W M Lenders; Karel Pacak
Journal:  J Clin Oncol       Date:  2007-06-01       Impact factor: 44.544
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.