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There are 9667 results for: content related to: 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. 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

  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

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

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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

  5. 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

  6. 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

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    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

    Version of Record online : 20 JUL 2011, DOI: 10.1002/jbmr.369

  8. 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

    Version of Record online : 25 JUN 2007, DOI: 10.1111/j.1365-2265.2007.02969.x

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    Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption

    Journal of Bone and Mineral Research

    Volume 29, Issue 3, March 2014, Pages: 749–760, Serap Turan, Eduardo Fernandez-Rebollo, Cumhur Aydin, Teuta Zoto, Monica Reyes, George Bounoutas, Min Chen, Lee S Weinstein, Reinhold G Erben, Vladimir Marshansky and Murat Bastepe

    Version of Record online : 19 FEB 2014, DOI: 10.1002/jbmr.2070

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    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

    Version of Record online : 8 JUN 2015, DOI: 10.1002/jbmr.2532

  11. 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

  12. 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

  13. 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

  14. 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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    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

  16. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsα

    Clinical Endocrinology

    Volume 68, Issue 2, February 2008, Pages: 233–239, M. Mouallem, M. Shaharabany, N. Weintrob, S. Shalitin, N. Nagelberg, H. Shapira, Z. Zadik and Z. Farfel

    Version of Record online : 30 JUL 2007, DOI: 10.1111/j.1365-2265.2007.03025.x

  17. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

    Human Mutation

    Volume 32, Issue 6, June 2011, Pages: 653–660, Susanne Thiele, Luisa de Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydin, Harald Jüppner, Murat Bastepe and Olaf Hiort

    Version of Record online : 12 APR 2011, DOI: 10.1002/humu.21489

  18. 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

  19. 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

  20. 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

    Version of Record online : 30 MAY 2006, DOI: 10.1196/annals.1346.029