Literature DB >> 16553041

Clinical heterogeneity of familial pseudohypoparathyroidism.

L Foppiani, P Del Monte, F Faravelli, L de Sanctis, A Marugo, D Bernasconi.   

Abstract

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Year:  2006        PMID： 16553041     DOI： 10.1007/BF03349184

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  18 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.  Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.

Authors:  Murat Bastepe; Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2003-09       Impact factor: 5.958

3.  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.

Authors:  M Bastepe; J E Pincus; T Sugimoto; K Tojo; M Kanatani; Y Azuma; K Kruse; A L Rosenbloom; H Koshiyama; H Jüppner
Journal:  Hum Mol Genet       Date:  2001-06-01       Impact factor: 6.150

4.  Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Authors:  M Bastepe; A H Lane; H Jüppner
Journal:  Am J Hum Genet       Date:  2001-04-09       Impact factor: 11.025

5.  A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Authors:  J Liu; D Litman; M J Rosenberg; S Yu; L G Biesecker; L S Weinstein
Journal:  J Clin Invest       Date:  2000-11       Impact factor: 14.808

Review 6.  Pseudohypoparathyroidism. New insights into an old disease.

Authors:  M Bastepe; H Jüppner
Journal:  Endocrinol Metab Clin North Am       Date:  2000-09       Impact factor: 4.741

7.  The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.

Authors:  Jie Liu; Beth Erlichman; Lee S Weinstein
Journal:  J Clin Endocrinol Metab       Date:  2003-09       Impact factor: 5.958

8.  Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Authors:  Murat Bastepe; Leopold F Fröhlich; Geoffrey N Hendy; Olafur S Indridason; Robert G Josse; Hiroyuki Koshiyama; Jarmo Körkkö; Jon M Nakamoto; Arlan L Rosenbloom; Arnold H Slyper; Toshitsugu Sugimoto; Agathocles Tsatsoulis; John D Crawford; Harald Jüppner
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808

9.  Intracerebral bilateral symmetrical calcifications, demonstrated in a patient with pseudohypoparathyroidism.

Authors:  L Smit; R M van Wijk; R E Rico; A D Sitalsing
Journal:  Clin Neurol Neurosurg       Date:  1988       Impact factor: 1.876

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
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