These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes. Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365 [TBL] [Abstract][Full Text] [Related]
8. A letter on ABCB4 from Iceland: On the highway to liver disease. Lammert F; Hochrath K Clin Res Hepatol Gastroenterol; 2015 Dec; 39(6):655-8. PubMed ID: 26410236 [TBL] [Abstract][Full Text] [Related]
12. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes. Lado-Abeal J; Castro-Piedras I; Palos-Paz F; Labarta-Aizpún JI; Albero-Gamboa R Thyroid; 2011 Feb; 21(2):103-9. PubMed ID: 21186955 [TBL] [Abstract][Full Text] [Related]
14. Largest set of human genomes from a single population is sequenced. Mayor S BMJ; 2015 Mar; 350():h1720. PubMed ID: 25820286 [No Abstract] [Full Text] [Related]
15. GNAS -Related Loss-of-Function Disorders and the Role of Imprinting. Linglart A; Maupetit-Méhouas S; Silve C Horm Res Paediatr; 2013; 79(3):119-29. PubMed ID: 23548772 [TBL] [Abstract][Full Text] [Related]
16. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. Dröge C; Bonus M; Baumann U; Klindt C; Lainka E; Kathemann S; Brinkert F; Grabhorn E; Pfister ED; Wenning D; Fichtner A; Gotthardt DN; Weiss KH; McKiernan P; Puri RD; Verma IC; Kluge S; Gohlke H; Schmitt L; Kubitz R; Häussinger D; Keitel V J Hepatol; 2017 Dec; 67(6):1253-1264. PubMed ID: 28733223 [TBL] [Abstract][Full Text] [Related]
17. Interpreting whole genome and exome sequencing data of individual gastric cancer samples. Esser D; Holze N; Haag J; Schreiber S; Krüger S; Warneke V; Rosenstiel P; Röcken C BMC Genomics; 2017 Jul; 18(1):517. PubMed ID: 28683819 [TBL] [Abstract][Full Text] [Related]
18. Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain. Palos-Paz F; Perez-Guerra O; Cameselle-Teijeiro J; Rueda-Chimeno C; Barreiro-Morandeira F; Lado-Abeal J; ; Araujo Vilar D; Argueso R; Barca O; Botana M; Cabezas-Agrícola JM; Catalina P; Dominguez Gerpe L; Fernandez T; Mato A; Nuño A; Penin M; Victoria B Eur J Endocrinol; 2008 Nov; 159(5):623-31. PubMed ID: 18694911 [TBL] [Abstract][Full Text] [Related]
19. Evidence for genetic linkage between a polymorphism in the GNAS gene and malaria in South Indian population. Gupta H; Sakharwade SC; Angural A; Kotambail A; Bhat GK; Hande MH; D'Souza SC; Rao P; Kumari V; Saadi AV; Satyamoorthy K Acta Trop; 2013 Dec; 128(3):571-7. PubMed ID: 23962387 [TBL] [Abstract][Full Text] [Related]