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Journal Article

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels Get access

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Qing Zhou and others

in The Journal of Clinical Endocrinology & Metabolism

The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 12, 1 December 2010, Pages E473–E478, https://doi.org/10.1210/jc.2010-1231

Published: 01 December 2010

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Journal Article

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels Get access

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Qing Zhou and others

in Endocrine Reviews

Endocrine Reviews, Volume 31, Issue 5, 1 October 2010, Page 779, https://doi.org/10.1210/edrv.31.5.9995

Published: 01 October 2010

Journal Article

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels

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Qing Zhou and others

in Molecular Endocrinology

Molecular Endocrinology, Volume 24, Issue 10, 1 October 2010, Page 2070, https://doi.org/10.1210/mend.24.10.9994

Published: 01 October 2010

Journal Article

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B Get access

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Eduardo Fernandez-Rebollo and others

in Endocrine Reviews

Endocrine Reviews, Volume 31, Issue 1, 1 February 2010, Page 135, https://doi.org/10.1210/edrv.31.1.9992

Published: 01 February 2010

Journal Article

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B Get access

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Eduardo Fernandez-Rebollo and others

in The Journal of Clinical Endocrinology & Metabolism

The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 2, 1 February 2010, Pages 765–771, https://doi.org/10.1210/jc.2009-1581

Published: 01 February 2010

Journal Article

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

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Eduardo Fernandez-Rebollo and others

in Molecular Endocrinology

Molecular Endocrinology, Volume 24, Issue 1, 1 January 2010, Pages 276–277, https://doi.org/10.1210/mend.24.1.9996

Published: 01 January 2010

Journal Article

Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy Get access

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Guiomar Pérez de Nanclares and others

in The Journal of Clinical Endocrinology & Metabolism

The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 6, 1 June 2007, Pages 2370–2373, https://doi.org/10.1210/jc.2006-2287

Published: 01 June 2007

Journal Article

Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress Get access

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Christian M. Moya and others

in The Journal of Clinical Endocrinology & Metabolism

The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 5, 1 May 2006, Pages 1832–1841, https://doi.org/10.1210/jc.2005-1497

Published: 01 May 2006

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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels Get access

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels Get access

Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B Get access

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B Get access

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy Get access

Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress Get access

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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels Free

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B Free

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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels

Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B