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There are 1074 results for: content related to: A useful skin biopsy

  1. Albright's hereditary osteodystrophy: A review

    American Journal of Medical Genetics

    Volume 11, Issue 1, January 1982, Pages: 11–29, Naomi Fitch, John M. Opitz and Jürgen Herrmann

    Article first published online : 2 JUN 2005, DOI: 10.1002/ajmg.1320110104

  2. References

    Acta Psychiatrica Scandinavica

    Volume 37, Issue S164, June 1962, Pages: 59–70,

    Article first published online : 23 AUG 2007, DOI: 10.1111/j.1600-0447.1962.tb01820.x

  3. Gsα Mutations and Imprinting Defects in Human Disease

    Annals of the New York Academy of Sciences

    Volume 968, Issue 1, June 2002, Pages: 173–197, LEE S. WEINSTEIN, MIN CHEN and JIE LIU

    Article first published online : 24 JAN 2006, DOI: 10.1111/j.1749-6632.2002.tb04335.x

  4. Calcium and Phosphorus Metabolism, Parathyroid Hormone, Calcitonin and Bone Histology in Pseudohypoparathyroidism

    European Journal of Clinical Investigation

    Volume 3, Issue 1, February 1973, Pages: 27–34, J. C. Birkenhäger, H. J. Seldenrath, W. H. L. Hackeng, A. P. M. Schelleken, A. L. J. van der Veer and F. Roelfsema

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1365-2362.1973.tb00325.x

  5. AN INVESTIGATION OF THE BIOLOGICAL ACTIVITY OF PARATHYROID HORMONE IN PSEUDOHYPOPARATHYROIDISM: COMPARISON WITH VITAMIN D DEFICIENCY

    Clinical Endocrinology

    Volume 20, Issue 5, May 1984, Pages: 503–514, J. ALLGROVE, J. CHAYEN, P. JAYAWEERA and J. L. H. O'RIORDAN

    Article first published online : 17 MAR 2008, DOI: 10.1111/j.1365-2265.1984.tb00097.x

  6. A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism

    Journal of Bone and Mineral Research

    Volume 30, Issue 10, October 2015, Pages: 1803–1813, Sihoon Lee, Michael Mannstadt, Jun Guo, Seul Min Kim, Hyon-Seung Yi, Ashok Khatri, Thomas Dean, Makoto Okazaki, Thomas J Gardella and Harald Jüppner

    Article first published online : 8 JUN 2015, DOI: 10.1002/jbmr.2532

  7. 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

    Article first published online : 16 APR 2015, DOI: 10.1002/jbmr.2408

  8. Plasma Cyclic AMP Response to Intravenous Parathyroid Hormone in Pseudohypoparathyroidism

    Acta Paediatrica

    Volume 80, Issue 3, March 1991, Pages: 333–338, H. F. STIRLING, J. A. B. DARLING and D. G. D. BARR

    Article first published online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1991.tb11858.x

  9. You have free access to this content
    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

  10. Kidney and Bone: Physiological and Pathophysiological Relationships

    Standard Article

    Comprehensive Physiology

    Edward M. Brown

    Published Online : 1 JAN 2011, DOI: 10.1002/cphy.cp080239

  11. Pseudohypoparathyroidism

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

    Harald Jüppner, Murat Bastepe, Pages: 590–600, 2013

    Published Online : 19 JUL 2013, DOI: 10.1002/9781118453926.ch73

  12. You have full text access to this OnlineOpen article
    A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 2, March 2015, Pages: 111–120, Susanne Thiele, Ralf Werner, Joachim Grötzinger, Bettina Brix, Pia Staedt, Dagmar Struve, Benedikt Reiz, Jennane Farida and Olaf Hiort

    Article first published online : 4 DEC 2014, DOI: 10.1002/mgg3.117

  13. PSEUDOHYPOPARATHYROIDISM: INHERITANCE AND EXPRESSION OF DEFICIENT RECEPTOR-CYCLASE COUPLING PROTEIN ACTIVITY

    Clinical Endocrinology

    Volume 19, Issue 6, December 1983, Pages: 747–754, J. A. FISCHER, H. R. BOURNE, M. A. DAMBACHER, F. TSCHOPP, R. DE MEYER, J.-P. DEVOGELAER, E. A. WERDER and C. NAGANT DE DEUXCHAISNES

    Article first published online : 17 MAR 2008, DOI: 10.1111/j.1365-2265.1983.tb00053.x

  14. You have free access to this content
    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

  15. 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

  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

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

  17. Differential diagnosis in young women with oligomenorrhea and the pseudopseudohypoparathyroidism variant of Albright's hereditary osteodystrophy

    American Journal of Medical Genetics

    Volume 21, Issue 3, July 1985, Pages: 551–568, Dr. Fahed Halal, Cornelis Van Dop, Julien Lord, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320210317

  18. NEUROLOGICAL COMPLICATIONS AND ELECTROENCEPHALOGRAPHIC CHANGES IN HYPOPARATHYROIDISM

    Acta Neurologica Scandinavica

    Volume 42, Issue 5, December 1966, Pages: 537–550, G. Alan Rose and C. J. Vas

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1966.tb01205.x

  19. 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

  20. 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

    Article first published online : 28 NOV 2014, DOI: 10.1002/humu.22696