Contract to kill: GNAS mutation by Pratima Raut, Poompozhil Mathivanan, Surinder K. Batra, Moorthy P. Ponnusamy

Subjects: “…GNAS…”
Get full text

Somatic GNAS mutations in acromegaly: prevalence, clinical features and gender differences by Yamei Yang, Yong Yao, Kan Deng, Bin Xing, Wei Lian, Hui You, Feng Feng, Xin Lian, Xinxin Mao, Fengying Gong, Linjie Wang, Meiping Chen, Xiaoan Ke, Hui Miao, Lian Duan, Huijuan Zhu

Subjects: Get full text

Effect of c.36-2277T>C mutation on the expression of luciferase in chicken GNAS gene by WANG Huanhuan, ZHANG Lei, GE Ying, SONG Dandan, LOU Lifeng, ZHANG Xuedong

Subjects: Get full text

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study by Christine Nitschke, Marie Tölle, Philipp Walter, Kira Meißner, Mara Goetz, Jolanthe Kropidlowski, Andreas W. Berger, Jakob R. Izbicki, Felix Nickel, Thilo Hackert, Klaus Pantel, Harriet Wikman, Faik G. Uzunoglu

Subjects: Get full text

A novel mutation in a case of pseudohypoparathyroidism type Ia by Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer

Subjects: Get full text

Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report by Tao Wen, Qian Liu, Xiangfa Liu, Rongjiao You, Xingyue Li, Rongxuan Li, Lixi Tan, Jing Cheng, Mingfan Hong, Zhongxing Peng

Subjects: Get full text

Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research by Biagio Palmisano, Camryn Berry, Alison Boyce, Julia F. Charles, Michael T. Collins, Alessandro Corsi, Fernando A. Fierro, Anne-Marie Heegaard, Hanne van der Heijden, Charles S. Hoffman, Chelsea Hopkins, Jaymin Upadhyay, Paul M. Wehn, Kelly L. Wentworth, Yingzi Yang, Xuefeng Zhao, Edward C. Hsiao, Mara Riminucci

Subjects: “…GNAS…”
Get full text

Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center by Solène Bergignat, Roland Chapurlat, Roland Chapurlat, Roland Chapurlat, Marc Nicolino, Marc Nicolino, Kevin Perge, Kevin Perge

Subjects: Get full text

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted... by Tatsuki Urakawa, Yuri Kanamaru, Naoko Amano, Akira Uchida, Maki Fukami, Masayo Kagami

Subjects: Get full text

Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism by Anna Bogusławska, Maria Komisarz-Calik, Alicja Hubalewska-Dydejczyk, Márta Korbonits, Pauline Romanet, Anne Barlier, Aleksandra Gilis-Januszewska

Subjects: Get full text

Mutational Landscape of Gastric Adenocarcinoma of the Fundic Gland Type Revealed by Whole Genome Sequencing by Hu Wei, Ze Min Chen, Xiu Fen Xue, Li Xia Xi, Gen Hua Yang, Zhi Yong Zhai, Zhao Yu Huang, Ping Zhou, Chong Ju Bao, Li Juan You, Mei Ping Ou Yang, Gui Li Xia, Zhi Yu Zeng, Xiao Bing Cui, Xiao Juan Pei, Wei Gong

Subjects: Get full text

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3) by Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, Eduard Mogas, Arrate Pereda, Guiomar Perez de Nanclares

Subjects: Get full text