Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 11 (of 11 Records) |
Query Trace: Gigantism[original query] |
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Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. European journal of endocrinology / European Federation of Endocrine Societies 2007 Jul 157 (1): 1-8. Cazabat Laure, Libè Rossella, Perlemoine Karine, René-Corail Fernande, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule, Dupasquier-Fediaevsky Laurence, Bertagna Xavier, Clauser Eric, Chanson Philippe, Bertherat Jérôme, Raffin-Sanson Marie-Lau |
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. British journal of cancer 2007 Jan 96 (2): 352-6. Georgitsi M, Karhu A, Winqvist R, Visakorpi T, Waltering K, Vahteristo P, Launonen V, Aaltonen L |
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. The Journal of clinical endocrinology and metabolism 2010 Nov 95 (11): E373-83. Daly Adrian F, Tichomirowa Maria A, Petrossians Patrick, Heliövaara Elina, Jaffrain-Rea Marie-Lise, Barlier Anne, Naves Luciana A, Ebeling Tapani, Karhu Auli, Raappana Antti, Cazabat Laure, De Menis Ernesto, Montañana Carmen Fajardo, Raverot Gerald, Weil Robert J, Sane Timo, Maiter Dominique, Neggers Sebastian, Yaneva Maria, Tabarin Antoine, Verrua Elisa, Eloranta Eija, Murat Arnaud, Vierimaa Outi, Salmela Pasi I, Emy Philippe, Toledo Rodrigo A, Sabaté Maria Isabel, Villa Chiara, Popelier Marc, Salvatori Roberto, Jennings Juliet, Longás Angel Ferrandez, Labarta Aizpún José Ignacio, Georgitsi Marianthi, Paschke Ralf, Ronchi Cristina, Valimaki Matti, Saloranta Carola, De Herder Wouter, Cozzi Renato, Guitelman Mirtha, Magri Flavia, Lagonigro Maria Stefania, Halaby Georges, Corman Vinciane, Hagelstein Marie-Thérèse, Vanbellinghen Jean-François, Barra Gustavo Barcelos, Gimenez-Roqueplo Anne-Paule, Cameron Fergus J, Borson-Chazot Françoise, Holdaway Ian, Toledo Sergio P A, Stalla Günter K, Spada Anna, Zacharieva Sabina, Bertherat Jerome, Brue Thierry, Bours Vincent, Chanson Philippe, Aaltonen Lauri A, Beckers Albe |
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. European journal of endocrinology / European Federation of Endocrine Societies 2013 Apr 168 (4): 533-41. Cuny Thomas, Pertuit Morgane, Sahnoun-Fathallah Mona, Daly Adrian, Occhi Gianluca, Odou Marie Françoise, Tabarin Antoine, Nunes Marie Laure, Delemer Brigitte, Rohmer Vincent, Desailloud Rachel, Kerlan Véronique, Chabre Olivier, Sadoul Jean-Louis, Cogne Muriel, Caron Philippe, Cortet-Rudelli Christine, Lienhardt Anne, Raingeard Isabelle, Guedj Anne-Marie, Brue Thierry, Beckers Albert, Weryha Georges, Enjalbert Alain, Barlier An |
Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas? Genetic testing and molecular biomarkers 2015 Jul 19 (7): 394-8. Yarman Sema, Ogret Yeliz Duvarci, Oguz Fatma Savr |
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine 2016 Mar . Ramírez-Rentería Claudia, Hernández-Ramírez Laura C, Portocarrero-Ortiz Lesly, Vargas Guadalupe, Melgar Virgilio, Espinosa Etual, Espinosa-de-Los-Monteros Ana Laura, Sosa Ernesto, González Baldomero, Zúñiga Sergio, Unterländer Martina, Burger Joachim, Stals Karen, Bussell Anne-Marie, Ellard Sian, Dang Mary, Iacovazzo Donato, Kapur Sonal, Gabrovska Plamena, Radian Serban, Roncaroli Federico, Korbonits Márta, Mercado Mois |
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study. Endocrine 2016 Jan . Ferraù Francesco, Romeo P D, Puglisi S, Ragonese M, Torre M L, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavò |
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 Jan . Castinetti F, Daly A F, Stratakis C A, Caberg J-H, Castermans E, Trivellin G, Rostomyan L, Saveanu A, Jullien N, Reynaud R, Barlier A, Bours V, Brue T, Beckers |
AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation. Endocrine connections 2017 Oct . Araujo Paula Bruna, Kasuki Leandro, de Azeredo Lima Carlos Henrique, Ogino Liana, Camacho Aline H S, Chimelli Leila, Korbonits Márta, Gadelha Monica |
Phenotypic and genotypic features of a large kindred with a germline AIP variant. Clinical endocrinology 2020 4 93 (2): 146-153. Dal Jakob, Nielsen Eigil H, Klose Marianne, Feldt-Rasmussen Ulla, Andersen Marianne, Vang Søren, Korbonits Márta, Jørgensen Jens Otto |
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion. Frontiers in endocrinology 2023 6 14 1166076. Giampaolo Trivellin, Adrian F Daly, Laura C Hernández-Ramírez, Elisa Araldi, Christina Tatsi, Ryan K Dale, Gus Fridell, Arjun Mittal, Fabio R Faucz, James R Iben, Tianwei Li, Eleonora Vitali, Stanko S Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A Gahl, Erica A Eugster, Luciana A Naves, Marie-Lise Jaffrain-Rea, Wouter W de Herder, Sebastian Jcmm Neggers, Patrick Petrossians, Albert Beckers, Andrea G Lania, Richard E Mains, Betty A Eipper, Constantine A Stratak |
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