Similar articles for PMID: 20427508

Year	Number of Results
1970	2
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1999	1
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2017	14
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2023	7
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1

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

Lebrun M, Richard N, Abeguilé G, David A, Coëslier Dieux A, Journel H, Lacombe D, Pinto G, Odent S, Salles JP, Taieb A, Gandon-Laloum S, Kottler ML. Lebrun M, et al. J Clin Endocrinol Metab. 2010 Jun;95(6):3028-38. doi: 10.1210/jc.2009-1451. Epub 2010 Apr 28. J Clin Endocrinol Metab. 2010. PMID: 20427508

2

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?].

Kottler ML. Kottler ML. Ann Endocrinol (Paris). 2015 May;76(2):105-9. doi: 10.1016/j.ando.2015.03.010. Epub 2015 May 4. Ann Endocrinol (Paris). 2015. PMID: 25952723 Review. French.

3

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

Richard N, Molin A, Coudray N, Rault-Guillaume P, Jüppner H, Kottler ML. Richard N, et al. J Clin Endocrinol Metab. 2013 Sep;98(9):E1549-56. doi: 10.1210/jc.2013-1667. Epub 2013 Jul 24. J Clin Endocrinol Metab. 2013. PMID: 23884777 Free PMC article.

4

Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report.

Gelfand IM, Hub RS, Shore EM, Kaplan FS, Dimeglio LA. Gelfand IM, et al. Bone. 2007 May;40(5):1425-8. doi: 10.1016/j.bone.2006.12.058. Epub 2006 Dec 28. Bone. 2007. PMID: 17321228

5

Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.

Elli FM, Barbieri AM, Bordogna P, Ferrari P, Bufo R, Ferrante E, Giardino E, Beck-Peccoz P, Spada A, Mantovani G. Elli FM, et al. Bone. 2013 Oct;56(2):276-80. doi: 10.1016/j.bone.2013.06.015. Epub 2013 Jun 21. Bone. 2013. PMID: 23796510 Free article.

6

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC, Thakker RV. Lemos MC, et al. Hum Mutat. 2015 Jan;36(1):11-9. doi: 10.1002/humu.22696. Epub 2014 Nov 28. Hum Mutat. 2015. PMID: 25219572 Free PMC article. Review.

7

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Chang G, Li Q, Li N, Li G, Li J, Ding Y, Huang X, Shen Y, Wang J, Wang X. Chang G, et al. BMC Endocr Disord. 2022 Mar 16;22(1):70. doi: 10.1186/s12902-022-00941-8. BMC Endocr Disord. 2022. PMID: 35296306 Free PMC article.

8

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P, Spada A, Mantovani G. Elli FM, et al. Hum Mutat. 2013 Mar;34(3):411-6. doi: 10.1002/humu.22265. Epub 2013 Jan 18. Hum Mutat. 2013. PMID: 23281139 Free article.

9

Disorders of GNAS Inactivation.

Haldeman-Englert CR, Hurst ACE, Levine MA. Haldeman-Englert CR, et al. 2017 Oct 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Oct 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29072892 Free Books & Documents. Review.

10

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Adegbite NS, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346. Am J Med Genet A. 2008. PMID: 18553568 Free PMC article.

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