Literature DB >> 22563116

"patients can have as many gene variants as they damn well please": why contemporary genetics presents us daily with a version of Hickam's dictum.

Constantine A Stratakis.   

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Year:  2012        PMID： 22563116      PMCID： PMC3339892          DOI： 10.1210/jc.2012-1650

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  31 in total

1.  Clinical problem-solving. Occam's razor versus Saint's Triad.

Authors:  Anthony A Hilliard; Steven E Weinberger; Lawrence M Tierney; David E Midthun; Sanjay Saint
Journal:  N Engl J Med       Date:  2004-02-05       Impact factor: 91.245

2.  Addison's disease without pigmentation.

Authors:  C J Runcie; C G Semple; S D Slater
Journal:  Scott Med J       Date:  1986-04       Impact factor: 0.729

3.  [Problems in the diagnosis of Addison's disease in the absence of hyperpigmentation].

Authors:  G Heil
Journal:  Z Gesamte Inn Med       Date:  1981-05-15

4.  Patients presenting with Addison's disease need not be pigmented.

Authors:  A H Barnett; E A Espiner; R A Donald
Journal:  Postgrad Med J       Date:  1982-11       Impact factor: 2.401

5.  The melanocortin-1-receptor gene is the major freckle gene.

Authors:  M Bastiaens; J ter Huurne; N Gruis; W Bergman; R Westendorp; B J Vermeer; J N Bouwes Bavinck
Journal:  Hum Mol Genet       Date:  2001-08-01       Impact factor: 6.150

6.  Plasma immunoreactive corticotrophin and lipotrophin in Cushing's syndrome and Addison's disease.

Authors:  J J Gilkes; L H Rees; G M Besser
Journal:  Br Med J       Date:  1977-04-16

Review 7.  Mutations in the human proopiomelanocortin gene.

Authors:  Heiko Krude; Heike Biebermann; Annette Gruters
Journal:  Ann N Y Acad Sci       Date:  2003-06       Impact factor: 5.691

Review 8.  Proopiomelanocortin, a polypeptide precursor with multiple functions: from physiology to pathological conditions.

Authors:  M L Raffin-Sanson; Y de Keyzer; X Bertagna
Journal:  Eur J Endocrinol       Date:  2003-08       Impact factor: 6.664

Review 9.  Turner's syndrome in dermatology.

Authors:  Eve J Lowenstein; Karen H Kim; Sharon A Glick
Journal:  J Am Acad Dermatol       Date:  2004-05       Impact factor: 11.527

10.  An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Authors:  Serap Turan; Claire Hughes; Zeynep Atay; Tulay Guran; Belma Haliloglu; Adrian J L Clark; Abdullah Bereket; Louise A Metherell
Journal:  J Clin Endocrinol Metab       Date:  2012-02-15       Impact factor: 5.958
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  1 in total

1.  Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.

Authors:  Martin Reincke; Adriana Albani; Guillaume Assie; Irina Bancos; Thierry Brue; Michael Buchfelder; Olivier Chabre; Filippo Ceccato; Andrea Daniele; Mario Detomas; Guido Di Dalmazi; Atanaska Elenkova; James Findling; Ashley B Grossman; Celso E Gomez-Sanchez; Anthony P Heaney; Juergen Honegger; Niki Karavitaki; Andre Lacroix; Edward R Laws; Marco Losa; Masanori Murakami; John Newell-Price; Francesca Pecori Giraldi; Luis G Pérez-Rivas; Rosario Pivonello; William E Rainey; Silviu Sbiera; Jochen Schopohl; Constantine A Stratakis; Marily Theodoropoulou; Elisabeth F C van Rossum; Elena Valassi; Sabina Zacharieva; German Rubinstein; Katrin Ritzel
Journal:  Eur J Endocrinol       Date:  2021-03       Impact factor: 6.664
  1 in total

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