Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Literature DB >> 11706740

Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

M A Levine¹.

Abstract

Entities: Disease

Mesh：

Substances：
Parathyroid Hormone

Year: 2000 PMID： 11706740 DOI： 10.1023/a:1026510200264

Source DB: PubMed Journal: Rev Endocr Metab Disord ISSN： 1389-9155 Impact factor: 6.514

× No keyword cloud information.

84 in total

1. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization.

Authors: M A Levine; W S Modi; S J O'Brien
Journal: Genomics Date: 1991-10 Impact factor: 5.736

2. Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.

Authors: J B MANN; S ALTERMAN; A G HILLS
Journal: Ann Intern Med Date: 1962-02 Impact factor: 25.391

3. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Authors: B E Hayward; V Moran; L Strain; D T Bonthron
Journal: Proc Natl Acad Sci U S A Date: 1998-12-22 Impact factor: 11.205

4. Guanosine triphosphatase-activating proteins for heterotrimeric G-proteins.

Authors: E M Ross; J Wang; Y Tu; G H Biddlecome
Journal: Adv Pharmacol Date: 1998

Review 5. Pseudohypoparathyroidism: clinical and molecular aspects.

Authors: C Van Dop
Journal: Semin Nephrol Date: 1989-06 Impact factor: 5.299

6. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.

Authors: J M Nakamoto; A T Sandstrom; A S Brickman; R A Christenson; C Van Dop
Journal: Am J Med Genet Date: 1998-05-26

7. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.

Authors: M A Levine; T S Jap; R S Mauseth; R W Downs; A M Spiegel
Journal: J Clin Endocrinol Metab Date: 1986-03 Impact factor: 5.958

8. Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease.

Authors: G S Kidd; M Schaaf; R A Adler; M N Lassman; H L Wray
Journal: Am J Med Date: 1980-05 Impact factor: 4.965

9. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism.

Authors: A M Moses; R S Weinstock; M A Levine; N A Breslau
Journal: J Clin Endocrinol Metab Date: 1986-01 Impact factor: 5.958

10. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Authors: H Jüppner; E Schipani; M Bastepe; D E Cole; M L Lawson; M Mannstadt; G N Hendy; H Plotkin; H Koshiyama; T Koh; J D Crawford; B R Olsen; M Vikkula
Journal: Proc Natl Acad Sci U S A Date: 1998-09-29 Impact factor: 11.205

7 in total

Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

1. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2----q13.3 in human by in situ hybridization.

2. Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.

3. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

4. Guanosine triphosphatase-activating proteins for heterotrimeric G-proteins.

Review 5. Pseudohypoparathyroidism: clinical and molecular aspects.

6. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.

7. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.

8. Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease.

9. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism.

10. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

1. Clinical heterogeneity of familial pseudohypoparathyroidism.

2. Twenty classic hand radiographs that lead to diagnosis.

Review 3. Genomic imprinting disorders in humans: a mini-review.

Review 4. Single Gene and Syndromic Causes of Obesity: Illustrative Examples.

5. Unusual long bone and metacarpo-carpal abnormalities in a case of pseudo-pseudohypoparathyroidism.

6. Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.

7. Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes.