Literature DB >> 26054904

A giant? Think of genetics: growth hormone-producing adenomas in the young are almost always the result of genetic defects.

Constantine A Stratakis1.   

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Year:  2015        PMID: 26054904     DOI: 10.1007/s12020-015-0645-3

Source DB:  PubMed          Journal:  Endocrine        ISSN: 1355-008X            Impact factor:   3.633


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  17 in total

1.  The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

Authors:  C A Stratakis; M A Tichomirowa; S Boikos; M F Azevedo; M Lodish; M Martari; S Verma; A F Daly; M Raygada; M F Keil; J Papademetriou; L Drori-Herishanu; A Horvath; K M Tsang; M Nesterova; S Franklin; J-F Vanbellinghen; V Bours; R Salvatori; A Beckers
Journal:  Clin Genet       Date:  2010-11       Impact factor: 4.438

2.  Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region.

Authors:  Silvia Sambugaro; Mauro Di Ruvo; Maria Rosaria Ambrosio; Natalia S Pellegata; Mariaenrica Bellio; Alessandra Guerra; Mattia Buratto; Maria Pia Foschini; Federico Tagliati; Ettore degli Uberti; Maria Chiara Zatelli
Journal:  Endocrine       Date:  2015-02-04       Impact factor: 3.633

3.  Is IGSF1 involved in human pituitary tumor formation?

Authors:  Fabio R Faucz; Anelia D Horvath; Monalisa F Azevedo; Isaac Levy; Beata Bak; Ying Wang; Paraskevi Xekouki; Eva Szarek; Evgenia Gourgari; Allison D Manning; Rodrigo Bertollo de Alexandre; Emmanouil Saloustros; Giampaolo Trivellin; Maya Lodish; Paul Hofman; Yvonne C Anderson; Ian Holdaway; Edward Oldfield; Prashant Chittiboina; Maria Nesterova; Nienke R Biermasz; Jan M Wit; Daniel J Bernard; Constantine A Stratakis
Journal:  Endocr Relat Cancer       Date:  2014-12-19       Impact factor: 5.678

Review 4.  p27kip1: a new multiple endocrine neoplasia gene?

Authors:  Ilaria Marinoni; Natalia S Pellegata
Journal:  Neuroendocrinology       Date:  2010-10-27       Impact factor: 4.914

Review 5.  Familial isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Authors:  Adrian F Daly; Albert Beckers
Journal:  Endocrinol Metab Clin North Am       Date:  2014-11-04       Impact factor: 4.741

6.  X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Authors:  Albert Beckers; Maya Beth Lodish; Giampaolo Trivellin; Liliya Rostomyan; Misu Lee; Fabio R Faucz; Bo Yuan; Catherine S Choong; Jean-Hubert Caberg; Elisa Verrua; Luciana Ansaneli Naves; Tim D Cheetham; Jacques Young; Philippe A Lysy; Patrick Petrossians; Andrew Cotterill; Nalini Samir Shah; Daniel Metzger; Emilie Castermans; Maria Rosaria Ambrosio; Chiara Villa; Natalia Strebkova; Nadia Mazerkina; Stéphan Gaillard; Gustavo Barcelos Barra; Luis Augusto Casulari; Sebastian J Neggers; Roberto Salvatori; Marie-Lise Jaffrain-Rea; Margaret Zacharin; Beatriz Lecumberri Santamaria; Sabina Zacharieva; Ee Mun Lim; Giovanna Mantovani; Maria Chaira Zatelli; Michael T Collins; Jean-François Bonneville; Martha Quezado; Prashant Chittiboina; Edward H Oldfield; Vincent Bours; Pengfei Liu; Wouter W de Herder; Natalia Pellegata; James R Lupski; Adrian F Daly; Constantine A Stratakis
Journal:  Endocr Relat Cancer       Date:  2015-02-24       Impact factor: 5.678

7.  Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Authors:  Giampaolo Trivellin; Adrian F Daly; Fabio R Faucz; Bo Yuan; Liliya Rostomyan; Darwin O Larco; Marie Helene Schernthaner-Reiter; Eva Szarek; Letícia F Leal; Jean-Hubert Caberg; Emilie Castermans; Chiara Villa; Aggeliki Dimopoulos; Prashant Chittiboina; Paraskevi Xekouki; Nalini Shah; Daniel Metzger; Philippe A Lysy; Emanuele Ferrante; Natalia Strebkova; Nadia Mazerkina; Maria Chiara Zatelli; Maya Lodish; Anelia Horvath; Rodrigo Bertollo de Alexandre; Allison D Manning; Isaac Levy; Margaret F Keil; Maria de la Luz Sierra; Leonor Palmeira; Wouter Coppieters; Michel Georges; Luciana A Naves; Mauricette Jamar; Vincent Bours; T John Wu; Catherine S Choong; Jerome Bertherat; Philippe Chanson; Peter Kamenický; William E Farrell; Anne Barlier; Martha Quezado; Ivana Bjelobaba; Stanko S Stojilkovic; Jurgen Wess; Stefano Costanzi; Pengfei Liu; James R Lupski; Albert Beckers; Constantine A Stratakis
Journal:  N Engl J Med       Date:  2014-12-03       Impact factor: 91.245

8.  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

9.  Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.

Authors:  Joshua M Francis; Adam Kiezun; Alex H Ramos; Stefano Serra; Chandra Sekhar Pedamallu; Zhi Rong Qian; Michaela S Banck; Rahul Kanwar; Amit A Kulkarni; Anna Karpathakis; Veronica Manzo; Tanupriya Contractor; Juliet Philips; Elizabeth Nickerson; Nam Pho; Susanne M Hooshmand; Lauren K Brais; Michael S Lawrence; Trevor Pugh; Aaron McKenna; Andrey Sivachenko; Kristian Cibulskis; Scott L Carter; Akinyemi I Ojesina; Samuel Freeman; Robert T Jones; Douglas Voet; Gordon Saksena; Daniel Auclair; Robert Onofrio; Erica Shefler; Carrie Sougnez; Jonna Grimsby; Lisa Green; Niall Lennon; Tim Meyer; Martyn Caplin; Daniel C Chung; Andreas S Beutler; Shuji Ogino; Christina Thirlwell; Ramesh Shivdasani; Sylvia L Asa; Chris R Harris; Gad Getz; Matthew Kulke; Matthew Meyerson
Journal:  Nat Genet       Date:  2013-11-03       Impact factor: 38.330

10.  A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report.

Authors:  Phuong L Mai; Larissa Korde; Joan Kramer; June Peters; Christine M Mueller; Susan Pfeiffer; Constantine A Stratakis; Peter A Pinto; Gennady Bratslavsky; Maria Merino; Peter Choyke; W Marston Linehan; Mark H Greene
Journal:  J Med Case Rep       Date:  2007-03-28
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  2 in total

Review 1.  Pituitary gigantism: update on molecular biology and management.

Authors:  Maya B Lodish; Giampaolo Trivellin; Constantine A Stratakis
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2016-02       Impact factor: 3.243

2.  Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

Authors:  Luciana A Naves; Adrian F Daly; Luiz Augusto Dias; Bo Yuan; Juliano Coelho Oliveira Zakir; Gustavo Barcellos Barra; Leonor Palmeira; Chiara Villa; Giampaolo Trivellin; Armindo Jreige Júnior; Florêncio Figueiredo Cavalcante Neto; Pengfei Liu; Natalia S Pellegata; Constantine A Stratakis; James R Lupski; Albert Beckers
Journal:  Endocrine       Date:  2015-11-25       Impact factor: 3.633

  2 in total

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