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Relative Functions of Gαs and its Extra-large Variant XLαs in the Endocrine System

Hormone and metabolic research, 2012-09, Vol.44 (10), p.732-740

Bastepe, M.

2012

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

The Journal of clinical investigation, 2005-05, Vol.115 (5), p.1250-1257

2005

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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

Journal of medical genetics, 2010-04, Vol.47 (4), p.276-280

2010

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Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

Human molecular genetics, 2001-06, Vol.10 (12), p.1231-1241

2001

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The Gene Responsible for Pseudohypoparathyroidism Type Ib Is Paternally Imprinted and Maps in Four Unrelated Kindreds to Chromosome 20q13.3

Proceedings of the National Academy of Sciences - PNAS, 1998-09, Vol.95 (20), p.11798-11803

1998

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Relative functions of Gαs and its extra-large variant XLαs in the endocrine system

Hormone and metabolic research, 2012-09, Vol.44 (10), p.732

Bastepe, M

2012

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Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type lb and the associated methylation defect at exon A/B: Evidence for a long-range regulatory element within the imprinted GNAS1 locus

Human molecular genetics, 2001-06, Vol.10 (12), p.1231-1241

2001

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Pseudohypoparathyroidism. New insights into an old disease

Endocrinology and metabolism clinics of North America, 2000-09, Vol.29 (3), p.569

2000

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GNAS locus and pseudohypoparathyroidism

Hormone research, 2005-01, Vol.63 (2), p.65-74

2005

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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

American journal of human genetics, 2006-02, Vol.78 (2), p.179-192

2006

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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects

Journal of medical genetics, 2010-04, Vol.47 (4), p.276-280

2010

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A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

American journal of human genetics, 2005-05, Vol.76 (5), p.804-814

2005

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Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Nature genetics, 2005-01, Vol.37 (1), p.25-27

2005

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Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in vivo

Proceedings of the National Academy of Sciences - PNAS, 2004-10, Vol.101 (41), p.14794-14799

2004

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Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Journal of bone and mineral research, 2010-10, Vol.25 (10), p.2165-2174

2010

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Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

American journal of human genetics, 2001-05, Vol.68 (5), p.1283-1289

2001

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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

The Journal of clinical investigation, 2003-10, Vol.112 (8), p.1255-1263

2003

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P1-066 - Caractéristiques cliniques des différentes formes de pseudohypoparathyroidie IB (PHP IB) : autosomique dominante ou sporadique ?

Annales d'endocrinologie, 2006-10, Vol.67 (5), p.426-426

2006

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Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3

Molecular and cellular probes, 2000-08, Vol.14 (4), p.261-264

2000

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

The Journal of clinical investigation, 2005-05, Vol.115 (5), p.1250-1257

2005

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Phenotypic and Molecular Genetic Aspects of Pseudohypoparathyroidism Type Ib in a Greek Kindred: Evidence for Enhanced Uric Acid Excretion Due to Parathyroid Hormone Resistance

The journal of clinical endocrinology and metabolism, 2004-12, Vol.89 (12), p.5942-5947

2004

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Identification and Characterization of Two Parathyroid Hormone-Like Molecules in Zebrafish

Endocrinology (Philadelphia), 2004-04, Vol.145 (4), p.1634-1639

2004

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Receptor-Mediated Adenylyl Cyclase Activation Through XLαs, the Extra-Large Variant of the Stimulatory G Protein α-Subunit

Molecular endocrinology (Baltimore, Md.), 2002-08, Vol.16 (8), p.1912-1919

2002

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CO36 - Les mutations de STX16 ou du locus GNAS causent différentes anomalies de méthylation de GNAS mais un seul type de résistance à la PTH : la pseudohypoparathyroidie-IB (PHP-IB)

Annales d'endocrinologie, 2005-10, Vol.66 (5), p.404-404

2005

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Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3′,5′-Monophosphate Formation Mediated by Human XLαs

Endocrinology (Philadelphia), 2006-05, Vol.147 (5), p.2253-2262

2006

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Relative Functions of Gαs and its Extra-large Variant XLαs in the Endocrine System

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

The Gene Responsible for Pseudohypoparathyroidism Type Ib Is Paternally Imprinted and Maps in Four Unrelated Kindreds to Chromosome 20q13.3

Relative functions of Gαs and its extra-large variant XLαs in the endocrine system

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type lb and the associated methylation defect at exon A/B: Evidence for a long-range regulatory element within the imprinted GNAS1 locus

Pseudohypoparathyroidism. New insights into an old disease

GNAS locus and pseudohypoparathyroidism

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects

A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

Stimulatory G Protein Directly Regulates Hypertrophic Differentiation of Growth Plate Cartilage in vivo

Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

P1-066 - Caractéristiques cliniques des différentes formes de pseudohypoparathyroidie IB (PHP IB) : autosomique dominante ou sporadique ?

Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Phenotypic and Molecular Genetic Aspects of Pseudohypoparathyroidism Type Ib in a Greek Kindred: Evidence for Enhanced Uric Acid Excretion Due to Parathyroid Hormone Resistance

Identification and Characterization of Two Parathyroid Hormone-Like Molecules in Zebrafish

Receptor-Mediated Adenylyl Cyclase Activation Through XLαs, the Extra-Large Variant of the Stimulatory G Protein α-Subunit

CO36 - Les mutations de STX16 ou du locus GNAS causent différentes anomalies de méthylation de GNAS mais un seul type de résistance à la PTH : la pseudohypoparathyroidie-IB (PHP-IB)

Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3′,5′-Monophosphate Formation Mediated by Human XLαs

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