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There are 8239 results for: content related to: Pseudohypoparathyroidism Type I a and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

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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

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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

  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

  9. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 595–602, Franck Court, Alex Martin-Trujillo, Valeria Romanelli, Intza Garin, Isabel Iglesias-Platas, Ira Salafsky, Miriam Guitart, Guiomar Perez de Nanclares, Pablo Lapunzina and David Monk

    Version of Record online : 19 FEB 2013, DOI: 10.1002/humu.22276

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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

  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. 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

  13. Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population

    Clinical Endocrinology

    Volume 88, Issue 2, February 2018, Pages: 285–294, Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia and Xiaoping Xing

    Version of Record online : 14 DEC 2017, DOI: 10.1111/cen.13516

  14. Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 97–102, Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, Francois P. Bernier, FORGE Canada Consortium, Jillian S. Parboosingh and A. Micheil Innes

    Version of Record online : 9 NOV 2012, DOI: 10.1002/humu.22222

    Corrected by:

    Erratum: Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

    Vol. 34, Issue 4, 667, Version of Record online: 11 FEB 2013

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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. 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

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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

  18. 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

  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. Complex Tissue-Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1211–1220, Salah Azzi, Annick Blaise, Virginie Steunou, Madeleine D. Harbison, Jennifer Salem, Frédéric Brioude, Sylvie Rossignol, Walid Abi Habib, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Cécile Brachet, Claudine Heinrichs, Yves Le Bouc and Irène Netchine

    Version of Record online : 22 AUG 2014, DOI: 10.1002/humu.22623