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There are 12691 results for: content related to: A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

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  1. You have full text access to this OnlineOpen article
    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

    Article first published online : 20 OCT 2011, DOI: 10.1002/jbmr.481

  2. 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

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32346

  3. 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

    Article first published online : 20 AUG 2010, DOI: 10.1002/ajmg.c.30271

  4. You have full text access to this OnlineOpen article
    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

    Article first published online : 20 JUL 2011, DOI: 10.1002/jbmr.408

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    Melt loss and the preservation of granulite facies mineral assemblages

    Journal of Metamorphic Geology

    Volume 20, Issue 7, September 2002, Pages: 621–632, R. W. White and R. Powell

    Article first published online : 29 JUL 2002, DOI: 10.1046/j.1525-1314.2002.00206_20_7.x

  6. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus

    Clinical Endocrinology

    Volume 67, Issue 6, December 2007, Pages: 822–831, Agnès Linglart, Murat Bastepe and Harald Jüppner

    Article first published online : 25 JUN 2007, DOI: 10.1111/j.1365-2265.2007.02969.x

  7. 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

    Article first published online : 18 JUN 2012, DOI: 10.1002/stem.1109

  8. 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

    Article first published online : 18 JAN 2013, DOI: 10.1002/humu.22265

  9. Frequent activating GNAS mutations in villous adenoma of the colorectum

    The Journal of Pathology

    Volume 228, Issue 1, September 2012, Pages: 113–118, Masayoshi Yamada, Shigeki Sekine, Reiko Ogawa, Hirokazu Taniguchi, Ryoji Kushima, Hitoshi Tsuda and Yae Kanai

    Article first published online : 2 JUL 2012, DOI: 10.1002/path.4012

  10. 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

    Article first published online : 4 FEB 2013, DOI: 10.1002/path.4153

  11. You have full text access to this OnlineOpen article
    Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

    Journal of Bone and Mineral Research

    Volume 26, Issue 8, August 2011, Pages: 1864–1870, Celia Zazo, Susanne Thiele, Cesar Martín, Eduardo Fernandez-Rebollo, Lorea Martinez-Indart, Ralf Werner, Intza Garin, Spanish PHP Group, Olaf Hiort and Guiomar Perez de Nanclares

    Article first published online : 20 JUL 2011, DOI: 10.1002/jbmr.369

  12. Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism

    Clinical Endocrinology

    Volume 75, Issue 2, August 2011, Pages: 207–213, Hye Young Jin, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Jin-Kyung Kim, Jung Hyun Lee, Jeesuk Yu, Jae-Ho Yoo, Cheol Woo Ko, Han-Hyuk Lim, Hye Rim Chung and Han-Wook Yoo

    Article first published online : 6 JUL 2011, DOI: 10.1111/j.1365-2265.2011.04026.x

  13. GNAS codon 201 mutations are uncommon in intraductal papillary neoplasms of the bile duct

    HPB

    Volume 14, Issue 10, October 2012, Pages: 677–683, Hanno Matthaei, Jian Wu, Marco Dal Molin, Marija Debeljak, Philipp Lingohr, Nora Katabi, David S. Klimstra, N. Volkan Adsay, James R. Eshleman, Richard D. Schulick, Kenneth W. Kinzler, Bert Vogelstein, Ralph H. Hruban and Anirban Maitra

    Article first published online : 18 JUN 2012, DOI: 10.1111/j.1477-2574.2012.00504.x

  14. Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus

    Annals of the New York Academy of Sciences

    Volume 1068, Issue 1, April 2006, Pages: 250–255, HARALD JÜPPNER, AGNÈS LINGLART, LEOPOLD F. FRÖHLICH and MURAT BASTEPE

    Article first published online : 30 MAY 2006, DOI: 10.1196/annals.1346.029

  15. KRAS and GNAS mutations and p53 overexpression in biliary intraepithelial neoplasia and intrahepatic cholangiocarcinomas

    Cancer

    Volume 119, Issue 9, 1 May 2013, Pages: 1669–1674, Maylee Hsu, Motoko Sasaki, Saya Igarashi, Yasunori Sato and Yasuni Nakanuma

    Article first published online : 18 JAN 2013, DOI: 10.1002/cncr.27955

  16. You have full text access to this OnlineOpen article
    The Pseudohypoparathyroidism Type 1b Locus Is Linked to a Region Including GNAS1 at 20q13.3

    Journal of Bone and Mineral Research

    Volume 18, Issue 3, March 2003, Pages: 424–433, Suzanne M Jan De Beur, Jeffery R O'Connell, Rita Peila, Justin Cho, Zhichao Deng, Stephen Kam and Michael A Levine

    Article first published online : 1 MAR 2003, DOI: 10.1359/jbmr.2003.18.3.424

  17. Imprinting at the GNAS locus and endocrine disease

    Standard Article

    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

    Lee S. Weinstein, Min Chen, Akio Sakamoto and Jie Liu

    Published Online : 15 JUL 2005, DOI: 10.1002/047001153X.g103203

  18. Water mites of the genus Atractides Koch, 1837 (Acari: Parasitengona: Hygrobatidae) in the western Palaearctic region: a revision

    Zoological Journal of the Linnean Society

    Volume 138, Issue 2-3, July 2003, Pages: 141–378, REINHARD GERECKE

    Article first published online : 7 JUL 2003, DOI: 10.1046/j.1096-3642.06-0.00051.x

  19. Phylogenetic relationships within the South American fish family Anostomidae (Teleostei, Ostariophysi, Characiformes)

    Zoological Journal of the Linnean Society

    Volume 154, Issue 1, September 2008, Pages: 70–210, BRIAN L. SIDLAUSKAS and RICHARD P. VARI

    Article first published online : 29 AUG 2008, DOI: 10.1111/j.1096-3642.2008.00407.x

  20. Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 11, November 2010, Pages: 2784–2790, Ying Fai Ngai, Chieko Chijiwa, Saadet Mercimek-Mahmutoglu, Laura Stewart, Siu-Li Yong, Wendy P. Robinson and William T. Gibson

    Article first published online : 26 OCT 2010, DOI: 10.1002/ajmg.a.33172

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