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Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion

Journal of bone and mineral research, 2021-04, Vol.36 (4), p.696-703

2021

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Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

The journal of clinical endocrinology and metabolism, 2021-08, Vol.106 (8), p.e3005-e3020

2021

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Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

Journal of bone and mineral research, 2020-05, Vol.35 (5), p.913-919

2020

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A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

Bone (New York, N.Y.), 2022-04, Vol.157, p.116344-116344, Article 116344

2022

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271

2024

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Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a

Bone Reports, 2022-06, Vol.16, p.101569-101569, Article 101569

2022

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Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

The journal of clinical endocrinology and metabolism, 2020-09, Vol.105 (9), p.e3197-e3206

2020

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Pseudohypoparathyroidism: one gene, several syndromes

Journal of endocrinological investigation, 2017-04, Vol.40 (4), p.347-356

2017

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Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

Frontiers in endocrinology (Lausanne), 2022-07, Vol.13, p.862817

2022

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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

Bone Reports, 2022-12, Vol.17, p.101637, Article 101637

2022

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A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family

Bone Reports, 2021-06, Vol.14, p.101073, Article 101073

2021

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Painful subcutaneous nodules on the thigh

Dermatology online journal, 2017-09, Vol.23 (9)

2017

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Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A

Journal of the Endocrine Society, 2019-07, Vol.3 (7), p.1383-1389

2019

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Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

British journal of dermatology (1951), 2010-03, Vol.162 (3), p.690-694

2010

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Pseudohypoparathyroidism

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 2018, p.661-673

2018

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Primary Ovarian Insufficiency

Menopause, p.23-66

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Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

British Journal of Dermatology, 2010, Vol.162 (3), p.690-694

2010

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Pseudohypoparathyroidism
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Humans
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Gtp-Binding Protein Alpha Subunits, Gs - Genetics
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Pseudohypoparathyroidism - Genetics
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Albright Hereditary Osteodystrophy
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Child
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Epigenetics
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Gnas
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Parathyroid Hormone
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Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

Pseudohypoparathyroidism: one gene, several syndromes

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family

Painful subcutaneous nodules on the thigh

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

Pseudohypoparathyroidism

Primary Ovarian Insufficiency

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

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