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There are 21176 results for: content related to: Paroxysmal Dyskinesia with Secondary Generalization of Tonic–clonic Seizures in Pseudohypoparathyroidism

  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

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320110104

  2. References

    Acta Psychiatrica Scandinavica

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

    Version of Record 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

    Version of Record online : 24 JAN 2006, DOI: 10.1111/j.1749-6632.2002.tb04335.x

  4. 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

    Version of Record online : 4 DEC 2014, DOI: 10.1002/mgg3.117

  5. 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

    Version of Record online : 20 MAR 2008, DOI: 10.1111/j.1365-2362.1973.tb00325.x


    Clinical Endocrinology

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

    Version of Record online : 17 MAR 2008, DOI: 10.1111/j.1365-2265.1984.tb00097.x

  7. 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

  8. 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

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320210317

  9. You have free access to this content
    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

  10. 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

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1991.tb11858.x


    Acta Neurologica Scandinavica

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

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1966.tb01205.x

  12. 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

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

  13. 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

    Version of Record online : 6 JUL 2011, DOI: 10.1111/j.1365-2265.2011.04026.x

  14. 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

  15. Kidney and Bone: Physiological and Pathophysiological Relationships

    Standard Article

    Comprehensive Physiology

    Edward M. Brown

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


    Clinical Endocrinology

    Volume 15, Issue 1, July 1981, Pages: 57–63, R. WINDECK, U. MENKEN, G. BENKER and D. REINWEIN

    Version of Record online : 17 MAR 2008, DOI: 10.1111/j.1365-2265.1981.tb02748.x


    Acta Paediatrica

    Volume 65, Issue 4, July 1976, Pages: 487–493, EIRIK MONN, JAN BJØRN OSNES, IVAR ØYE and KARL WILHELM WEFRING

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1976.tb04918.x

  18. Clinical and Genetic Characteristics of Pseudohypoparathyroidism in the Chinese Population

    Clinical Endocrinology

    Accepted manuscript online: 14 NOV 2017, Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia and Xiaoping Xing

    DOI: 10.1111/cen.13516

  19. 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

  20. You have free access to this content
    Severe hypercalcemic hyperparathyroidism developing in a patient with hyperaldosteronism and renal resistance to parathyroid hormone

    Journal of Bone and Mineral Research

    Volume 28, Issue 3, March 2013, Pages: 700–708, Jennifer Park-Sigal, Burl R Don, Anne Porzig, Robert Recker, Virginia Griswold, Anthony Sebastian, Quan-Yang Duh, Anthony A Portale, Dolores Shoback and Morris Schambelan

    Version of Record online : 15 FEB 2013, DOI: 10.1002/jbmr.1791