Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Author:

Iacovazzo Donato,Caswell Richard,Bunce Benjamin,Jose Sian,Yuan Bo,Hernández-Ramírez Laura C.,Kapur Sonal,Caimari Francisca,Evanson Jane,Ferraù Francesco,Dang Mary N.,Gabrovska Plamena,Larkin Sarah J.,Ansorge Olaf,Rodd Celia,Vance Mary L.,Ramírez-Renteria Claudia,Mercado Moisés,Goldstone Anthony P.,Buchfelder Michael,Burren Christine P.,Gurlek Alper,Dutta Pinaki,Choong Catherine S.,Cheetham Timothy,Trivellin Giampaolo,Stratakis Constantine A.,Lopes Maria-Beatriz,Grossman Ashley B.,Trouillas Jacqueline,Lupski James R.,Ellard Sian,Sampson Julian R.,Roncaroli Federico,Korbonits Márta

Funder

Medical Research Council

Wellcome Trust

National Institute for Health Research

Barts and The London Charity

Royal Society

DST-UKIERI

Wales Gene Park

Pfizer Ltd

Intramural Research Program, NICHD

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

NIHR Oxford Biomedical Research Centre

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference40 articles.

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2. Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W WdH, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015;22:353–67. doi: 10.1530/ERC-15-0038 .

3. Hérnandez-Ramírez LC, Gabrovska P, Denes J, Stals K, Trivellin G, Tilley D, Ferraù F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M, International FC. Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in AIP mutation carriers. J Clin Endocrinol Metab. 2015;100:E1242–54. doi: 10.1210/jc.2015-1869 .

4. Cuny T, Pertuit M, Sahnoun-Fathallah M, Daly A, Occhi G, Odou MF, Tabarin A, Nunes ML, Delemer B, Rohmer V, Desailloud R, Kerlan V, Chabre O, Sadoul JL, Cogne M, Caron P, Cortet-Rudelli C, Lienhardt A, Raingeard I, Guedj AM, Brue T, Beckers A, Weryha G, Enjalbert A, Barlier A. Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Eur J Endocrinol. 2013;168:533–41. doi: 10.1530/EJE-12-0763 .

5. Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, Lecoq AL, Lecumberri B, Trivellin G, Salvatori R, Moraitis AG, Holdaway I, Kranenburg-van Klaveren DJ, Chiara Zatelli M, Palacios N, Nozieres C, Zacharin M, Ebeling T, Ojaniemi M, Rozhinskaya L, Verrua E, Jaffrain-Rea ML, Filipponi S, Gusakova D, Pronin V, Bertherat J, Belaya Z, Ilovayskaya I, Sahnoun-Fathallah M, Sievers C, Stalla GK, Castermans E, Caberg JH, Sorkina E, Auriemma RS, Mittal S, Kareva M, Lysy PA, Emy P, De Menis E, Choong CS, Mantovani G, Bours V, De Herder W, Brue T, Barlier A, Neggers SJ, Zacharieva S, Chanson P, Shah NS, Stratakis CA, Naves LA, Beckers A. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr Relat Cancer. 2015;22:745–57. doi: 10.1530/ERC-15-0320 .

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