Molecular Diagnosis and Clinical Characterization of Pseudohypoparathyroidism Type-Ib in a Patient With Mild Albright’s Hereditary Osteodystrophy-Like Features, Epileptic Seizures, and Defective Renal Handling of Uric Acid-Reference-Cited by-同舟云学术

Molecular Diagnosis and Clinical Characterization of Pseudohypoparathyroidism Type-Ib in a Patient With Mild Albright’s Hereditary Osteodystrophy-Like Features, Epileptic Seizures, and Defective Renal Handling of Uric Acid

Published:2008-07 Issue:1 Volume:336 Page:84-90
ISSN:0002-9629
Container-title:The American Journal of the Medical Sciences
language:en
Short-container-title:The American Journal of the Medical Sciences

Author:

Unluturk Ugur,Harmanci Ayla,Bayraktar Miyase,Babaoglu Melih,Yasar Umit,Varli Kubilay,Bastepe Murat

Publisher

Elsevier BV

Subject

General Medicine

Reference28 articles.

1. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS;Bastepe;J Clin Invest,2003

2. Hormones and disorders of mineral metabolism;Bringhurst,2003

3. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B;Liu;J Clin Endocrinol Metab,2003

4. Paternal uniparental isodisomy of chromosome 20q—and the resulting changes in GNAS1 methylation—as a plausible cause of pseudohypoparathyroidism;Bastepe;Am J Hum Genet,2001

5. 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;Bastepe;Hum Mol Genet,2001

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1. STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B;Journal of Pediatric Endocrinology and Metabolism;2024-07-22

2. Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A;BMC Pediatrics;2024-04-25

3. Pseudohypoparathyroidism: complex disease variants with unfortunate names;Journal of Molecular Endocrinology;2023-11-15

4. Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases;Endocrinología, Diabetes y Nutrición;2022-01

5. Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases;Endocrinología, Diabetes y Nutrición (English ed.);2022-01