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Literature DB >> 2993571

Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism.

Y Weisman, A Golander, Z Spirer, Z Farfel.

Abstract

Entities: Disease

Mesh：

Substances：
Cyclic AMP

Year: 1985 PMID： 2993571 DOI： 10.1016/s0022-3476(85)80521-7

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

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Cited

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11 in total

Review 1. Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Authors: M A Levine
Journal: Rev Endocr Metab Disord Date: 2000-11 Impact factor: 6.514

Review 2. Detection and treatment of congenital hypothyroidism.

Authors: Annette Grüters; Heiko Krude
Journal: Nat Rev Endocrinol Date: 2011-10-18 Impact factor: 43.330

3. GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.

Authors: L de Sanctis; J Bellone; M Salerno; E Faleschini; M Caruso-Nicoletti; M Cicchetti; D Concolino; A Balsamo; F Buzi; L Ghizzoni; C de Sanctis
Journal: J Endocrinol Invest Date: 2007-02 Impact factor: 4.256

4. Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

Authors: Serap Turan; Eduardo Fernandez-Rebollo; Cumhur Aydin; Teuta Zoto; Monica Reyes; George Bounoutas; Min Chen; Lee S Weinstein; Reinhold G Erben; Vladimir Marshansky; Murat Bastepe
Journal: J Bone Miner Res Date: 2014-03 Impact factor: 6.741

Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism.

Review 1. Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Review 2. Detection and treatment of congenital hypothyroidism.

3. GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.

4. Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

5. Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Review 6. Albright's hereditary osteodystrophy.

7. Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.

8. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a.

9. Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.

10. A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.