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There are 3671 results for: content related to: Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption

  1. You have free access to this content
    Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

    Journal of Bone and Mineral Research

    Volume 31, Issue 4, April 2016, Pages: 796–805, Rieko Takatani, Angelo Molinaro, Giedre Grigelioniene, Olta Tafaj, Tomoyuki Watanabe, Monica Reyes, Amita Sharma, Vibha Singhal, F Lucy Raymond, Agnès Linglart and Harald Jüppner

    Version of Record online : 14 NOV 2015, DOI: 10.1002/jbmr.2731

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    Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification

    Journal of Bone and Mineral Research

    Volume 26, Issue 11, November 2011, Pages: 2647–2655, Robert J Pignolo, Meiqi Xu, Elizabeth Russell, Alec Richardson, Josef Kaplan, Paul C Billings, Frederick S Kaplan and Eileen M Shore

    Version of Record online : 20 OCT 2011, DOI: 10.1002/jbmr.481

  3. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

    Journal of Bone and Mineral Research

    Volume 32, Issue 4, April 2017, Pages: 776–783, Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, Susanne Thiele, Olta Tafaj, Angelo Molinaro, Rieko Takatani, Marja Ala-Houhala, Daniel Nilsson, Jesper Eisfeldt, Anna Lindstrand, Marie-Laure Kottler, Outi Mäkitie and Harald Jüppner

    Version of Record online : 24 FEB 2017, DOI: 10.1002/jbmr.3083

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    TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)

    Journal of Bone and Mineral Research

    Volume 30, Issue 5, May 2015, Pages: 906–912, Angelo Molinaro, Dov Tiosano, Rieko Takatani, Dionisios Chrysis, William Russell, Nikolas Koscielniak, Marie-Laure Kottler, Patrizia Agretti, Giuseppina De Marco, Petteri Ahtiainen, Marta Christov, Outi Mäkitie, Massimo Tonacchera and Harald Jüppner

    Version of Record online : 16 APR 2015, DOI: 10.1002/jbmr.2408

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    Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

    Journal of Bone and Mineral Research

    Volume 26, Issue 8, August 2011, Pages: 1854–1863, Eduardo Fernández-Rebollo, Guiomar Pérez de Nanclares, Beatriz Lecumberri, Serap Turan, Emma Anda, Gustavo Pérez-Nanclares, Denice Feig, Serena Nik-Zainal, Murat Bastepe and Harald Jüppner

    Version of Record online : 20 JUL 2011, DOI: 10.1002/jbmr.408

  6. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1788–1796, N.S. Adegbite, M. Xu, F.S. Kaplan, E.M. Shore and R.J. Pignolo

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32346

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    Paternally Inherited Gsα Mutation Impairs Adipogenesis and Potentiates a Lean Phenotype In Vivo

    STEM CELLS

    Volume 30, Issue 7, July 2012, Pages: 1477–1485, Jan-Jan Liu, Elizabeth Russell, Deyu Zhang, Frederick S. Kaplan, Robert J. Pignolo and Eileen M. Shore

    Version of Record online : 18 JUN 2012, DOI: 10.1002/stem.1109

  8. Interrelationships between generalized Tikhonov regularization, generalized net analyte signal, and generalized least squares for desensitizing a multivariate calibration to interferences

    Journal of Chemometrics

    Volume 27, Issue 5, May 2013, Pages: 126–140, Erik Andries and John H. Kalivas

    Version of Record online : 29 APR 2013, DOI: 10.1002/cem.2501

  9. Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1172–1180, Stéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynes, Guiomar Perez de Nanclares, Boris Keren, Sandra Chantot, Anne Barlier, Agnès Linglart and Irène Netchine

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22352

  10. Value of adding GNAS testing to pancreatic cyst fluid KRAS and carcinoembryonic antigen analysis for the diagnosis of intraductal papillary mucinous neoplasms

    Digestive Endoscopy

    Volume 29, Issue 1, January 2017, Pages: 111–117, Abdurrahman Kadayifci, Mustafa Atar, Jessica L. Wang, David G. Forcione, Brenna W. Casey, Martha B. Pitman and William R. Brugge

    Version of Record online : 4 OCT 2016, DOI: 10.1111/den.12710

  11. Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 3, 15 August 2010, Pages: 377–386, Gavin Kelsey

    Version of Record online : 20 AUG 2010, DOI: 10.1002/ajmg.c.30271

  12. GNAS mutations are present in colorectal traditional serrated adenomas, serrated tubulovillous adenomas and serrated adenocarcinomas with adverse prognostic features

    Histopathology

    Volume 70, Issue 7, June 2017, Pages: 1079–1088, Cheng Liu, Diane M McKeone, Neal I Walker, Mark L Bettington, Barbara A Leggett and Vicki L J Whitehall

    Version of Record online : 22 MAR 2017, DOI: 10.1111/his.13180

  13. You have full text access to this OnlineOpen article
    GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 11–19, Manuel C. Lemos and Rajesh V. Thakker

    Version of Record online : 28 NOV 2014, DOI: 10.1002/humu.22696

  14. RNF43 mutation frequently occurs with GNAS mutation and mucin hypersecretion in intraductal papillary neoplasms of the bile duct

    Histopathology

    Volume 70, Issue 5, April 2017, Pages: 756–765, Jia-Huei Tsai, Jau-Yu Liau, Chang-Tsu Yuan, Mei-Ling Cheng, Ray-Hwang Yuan and Yung-Ming Jeng

    Version of Record online : 10 JAN 2017, DOI: 10.1111/his.13125

  15. Frequent lack of GNAS mutations in colorectal adenocarcinoma associated with GNAS-mutated villous adenoma

    Genes, Chromosomes and Cancer

    Volume 53, Issue 4, April 2014, Pages: 366–372, Shigeki Sekine, Reiko Ogawa, Taihei Oshiro, Yukihide Kanemitsu, Hirokazu Taniguchi, Ryoji Kushima and Yae Kanai

    Version of Record online : 28 JAN 2014, DOI: 10.1002/gcc.22147

  16. Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 411–416, Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck-Peccoz, Anna Spada and Giovanna Mantovani

    Version of Record online : 18 JAN 2013, DOI: 10.1002/humu.22265

  17. A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 261–264, Toshikatsu Mitsui, Keisuke Nagasaki, Masaki Takagi, Satoshi Narumi, Tomohiro Ishii and Tomonobu Hasegawa

    Version of Record online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34393

  18. Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma

    The Journal of Dermatology

    Volume 41, Issue 4, April 2014, Pages: 319–321, Ji Young Huh, Min-Jung Kwon, Kyu Young Seo, Moon Kyu Kim, Kyu Young Chae, Se Hoon Kim, Chang-Seok Ki, Moon Soo Yoon and Dong Hyun Kim

    Version of Record online : 11 FEB 2014, DOI: 10.1111/1346-8138.12284

  19. You have full text access to this OnlineOpen article
    Targeted next-generation sequencing of cancer genes dissects the molecular profiles of intraductal papillary neoplasms of the pancreas

    The Journal of Pathology

    Volume 233, Issue 3, July 2014, Pages: 217–227, Eliana Amato, Marco dal Molin, Andrea Mafficini, Jun Yu, Giuseppe Malleo, Borislav Rusev, Matteo Fassan, Davide Antonello, Yoshihiko Sadakari, Paola Castelli, Giuseppe Zamboni, Anirban Maitra, Roberto Salvia, Ralph H Hruban, Claudio Bassi, Paola Capelli, Rita T Lawlor, Michael Goggins and Aldo Scarpa

    Version of Record online : 11 JUN 2014, DOI: 10.1002/path.4344

  20. Frequent GNAS and KRAS mutations in pyloric gland adenoma of the stomach and duodenum

    The Journal of Pathology

    Volume 229, Issue 4, March 2013, Pages: 579–587, Akiko Matsubara, Shigeki Sekine, Ryoji Kushima, Reiko Ogawa, Hirokazu Taniguchi, Hitoshi Tsuda and Yae Kanai

    Version of Record online : 4 FEB 2013, DOI: 10.1002/path.4153