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  1. 1
    Familial association of pseudohypoparathyroidism and psoriasis: case report

    Familial association of pseudohypoparathyroidism and psoriasis: case report 由 Montenegro Junior, Renan Magalhães, Paula, Francisco José Albuquerque de, Foss, Norma Tiraboshi, Foss, Milton Cesar

    出版 2002
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  2. 2
    Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption

    Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption 由 Serap Turan, Eduardo Fernández‐Rebollo, Cumhur Aydın, Teuta Zoto Mustafayev, Monica Reyes, George S. Bounoutas, Min Chen, Lee S. Weinstein, Reinhold G. Erben, Vladimir Marshansky, Murat Bastepe

    出版 2013
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  3. 3
    Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

    Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (spor... 由 Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner

    出版 2015
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  4. 4
    The human <i>GNAS1</i> gene is imprinted and encodes distinct paternally and biallelically expressed G proteins

    The human <i>GNAS1</i> gene is imprinted and encodes distinct paternally and biallelically expressed G proteins 由 Bruce E. Hayward, Mamoru Kamiya, Lisa Strain, Veronica Moran, Roderick Campbell, Yoshihide Hayashizaki, David T. Bonthron

    出版 1998
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  5. 5
    Imprinting in Albright's hereditary osteodystrophy.

    Imprinting in Albright's hereditary osteodystrophy. 由 Sally Davies, Helen E. Hughes

    出版 1993
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  6. 6
    First description of pseudohypoparathyroidism with frontal lobe calcification and normal serum calcium at the initial manifestation in an otherwise healthy seven-year-old girl

    First description of pseudohypoparathyroidism with frontal lobe calcification and normal serum calcium at the initial manifestation in an otherwise healthy seven-year-old girl 由 Ana Carla Montenegro, Thais Gelenske, Érico Higino de Carvalho, Francisco Bandeira, Éverton Botelho Sougey

    出版 2011
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  7. 7
    Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations

    Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations 由 Francesca Marta Elli, Luisa De Sanctis, Valentina Bollati, Letizia Tarantini, Marcello Filopanti, Anna Maria Barbieri, Erika Peverelli, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    出版 2014
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  8. 8
    Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin.

    Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin. 由 A H Tashjian, ANDREW G. FRANTZ, J B Lee

    出版 1966
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  9. 9
    Pseudohypoparathyroidism: Diagnosis and Treatment

    Pseudohypoparathyroidism: Diagnosis and Treatment 由 Giovanna Mantovani

    出版 2011
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  10. 10
    Progressive osseous heteroplasia: diagnosis, treatment, and prognosis

    Progressive osseous heteroplasia: diagnosis, treatment, and prognosis 由 Robert J. Pignolo, Girish Ramaswamy, John Fong, Eileen M. Shore, Frederick S. Kaplan

    出版 2015
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  11. 11
    Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene

    Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene 由 Giovanna Mantovani, Mohamad Maghnie, Giovanna Weber, Ernesto De Menis, Valeria Brunelli, Marco Cappa, Paola Loli, Paolo Beck‐Peccoz, Anna Spada

    出版 2003
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  12. 12
    Recurrent<i>PRKAR1A</i>Mutation in Acrodysostosis with Hormone Resistance

    Recurrent<i>PRKAR1A</i>Mutation in Acrodysostosis with Hormone Resistance 由 Agnès Linglart, Christine Dos Santos, Alain Couvineau, Colette Auzan, Yasemin Güneş, Mathilde Cancel, Emmanuelle Motte‐Signoret, Graziella Pinto, Philippe Chanson, Pierre Bougnères, Éric Clauser, Caroline Silve

    出版 2011
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  13. 13
    Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity.

    Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. 由 Zvi Farfel, V M Brothers, A. S. Brickman, Felix A. Conte, R Neer, Henry R. Bourne

    出版 1981
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  14. 14
    A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels

    A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels 由 Mariana Tenorio Antunes Reis, Andreína Cattani, Berenice B. Mendonça, Pedro Henrique Silveira Corrêa, Regina Matsunaga Martin

    出版 2010
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  15. 15
    Biallelic Expression of the Gsα Gene in Human Bone and Adipose Tissue

    Biallelic Expression of the Gsα Gene in Human Bone and Adipose Tissue 由 Giovanna Mantovani, Sara Bondioni, Marco Locatelli, C. Pedroni, Andrea Lania, Emanuele Ferrante, Marcello Filopanti, Paolo Beck‐Peccoz, Anna Spada

    出版 2004
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  16. 16
    Minireview: GNAS: Normal and Abnormal Functions

    Minireview: GNAS: Normal and Abnormal Functions 由 Lee S. Weinstein, Jie Liu, Akio Sakamoto, Tao Xie, Min Chen

    出版 2004
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  17. 17
    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis 由 Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

    出版 2012
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  18. 18
    Familial association of pseudohypoparathyroidism and psoriasis: case report

    Familial association of pseudohypoparathyroidism and psoriasis: case report 由 Renan Magalhães Montenegro, Francisco José Albuquerque de Paula, Norma Tiraboshi Foss, Milton César Foss

    出版 2002
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  19. 19
    The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3

    The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3 由 Harald Jüppner, Ernestina Schipani, Murat Bastepe, David E.C. Cole, Margaret L. Lawson, Michael Mannstadt, Geoffrey N. Hendy, Horacio Plotkin, Hiroyuki Koshiyama, T. Koh, John D. Crawford, Bjørn R. Olsen, Miikka Vikkula

    出版 1998
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  20. 20
    IDIOPATHIC HYPOPARATHYROIDISM AND PSEUDOHYPOPARATHYROIDISM

    IDIOPATHIC HYPOPARATHYROIDISM AND PSEUDOHYPOPARATHYROIDISM 由 David Bronsky, Daniel S. Kushner, Alvin Dubin, I. Snapper

    出版 1958
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