Literature DB >> 18673462

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1.

Martina Owens, Karen Stals, Sian Ellard, Bijay Vaidya.   

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Year:  2008        PMID： 18673462     DOI： 10.1111/j.1365-2265.2008.03363.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  6 in total

1.  Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.

Authors:  Sunita K Agarwal; Carmen M Mateo; Stephen J Marx
Journal:  J Clin Endocrinol Metab       Date:  2009-01-13       Impact factor: 5.958

2.  Characterization of a naturally-occurring p27 mutation predisposing to multiple endocrine tumors.

Authors:  Sara Molatore; Eva Kiermaier; Christian B Jung; Misu Lee; Elke Pulz; Heinz Höfler; Michael J Atkinson; Natalia S Pellegata
Journal:  Mol Cancer       Date:  2010-05-21       Impact factor: 27.401

3.  MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients.

Authors:  Joanne M de Laat; Rob B van der Luijt; Carolina R C Pieterman; Maria P Oostveen; Ad R Hermus; Olaf M Dekkers; Wouter W de Herder; Anouk N van der Horst-Schrivers; Madeleine L Drent; Peter H Bisschop; Bas Havekes; Menno R Vriens; Gerlof D Valk
Journal:  BMC Med       Date:  2016-11-15       Impact factor: 8.775

Review 4.  Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.

Authors:  Cornelis J Lips; Koen M Dreijerink; Jo W Höppener
Journal:  Clinics (Sao Paulo)       Date:  2012       Impact factor: 2.365

5.  Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Authors:  Judit Dénes; Francesca Swords; Eleanor Rattenberry; Karen Stals; Martina Owens; Treena Cranston; Paraskevi Xekouki; Linda Moran; Ajith Kumar; Christopher Wassif; Naomi Fersht; Stephanie E Baldeweg; Damian Morris; Stafford Lightman; Amar Agha; Aled Rees; Joan Grieve; Michael Powell; Cesar Luiz Boguszewski; Pinaki Dutta; Rajesh V Thakker; Umasuthan Srirangalingam; Chris J Thompson; Maralyn Druce; Claire Higham; Julian Davis; Rosalind Eeles; Mark Stevenson; Brendan O'Sullivan; Phillipe Taniere; Kassiani Skordilis; Plamena Gabrovska; Anne Barlier; Susan M Webb; Anna Aulinas; William M Drake; John S Bevan; Cristina Preda; Nadezhda Dalantaeva; Antônio Ribeiro-Oliveira; Isabel Tena Garcia; Galina Yordanova; Violeta Iotova; Jane Evanson; Ashley B Grossman; Jacqueline Trouillas; Sian Ellard; Constantine A Stratakis; Eamonn R Maher; Federico Roncaroli; Márta Korbonits
Journal:  J Clin Endocrinol Metab       Date:  2014-12-12       Impact factor: 5.958

Review 6.  The Importance of an Early and Accurate MEN1 Diagnosis.

Authors:  Joanne M de Laat; Rachel S van Leeuwaarde; Gerlof D Valk
Journal:  Front Endocrinol (Lausanne)       Date:  2018-09-11       Impact factor: 5.555
  6 in total

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