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L. Soellner et al.
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Serap Turan et al.
BONE (2015)
Loss of Methylation at GNAS Exon A/B Is Associated With Increased Intrauterine Growth
Anne-Claire Brehin et al.
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Pauline Romanet et al.
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin et al.
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Andrei S. Chagin et al.
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A. H. Shoemaker et al.
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Nicolas Richard et al.
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Celia Zazo et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
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Eduardo Fernandez-Rebollo et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)
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Giovanna Mantovani et al.
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Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gαs in the development of human obesity
Dominique N. Long et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
M Bastepe et al.
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The imprinted signaling protein XLαs is required for postnatal adaptation to feeding
A Plagge et al.
NATURE GENETICS (2004)
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
M Bastepe et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia:: New evidence for imprinting of the Gsα gene
G Mantovani et al.
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The Gsα gene:: Predominant maternal origin of transcription in human thyroid gland and gonads
G Mantovani et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Definition of fetal growth restriction according to constitutional growth potential
N Mamelle et al.
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A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
J Liu et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
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