Literature DB >> 12970261

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

Murat Bastepe, Harald Jüppner.   

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Year:  2003        PMID： 12970261     DOI： 10.1210/jc.2003-031271

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  11 in total

1.  Clinical heterogeneity of familial pseudohypoparathyroidism.

Authors:  L Foppiani; P Del Monte; F Faravelli; L de Sanctis; A Marugo; D Bernasconi
Journal:  J Endocrinol Invest       Date:  2006-01       Impact factor: 4.256

Review 2.  Diagnosis and management of hypocalcaemia.

Authors:  Mark S Cooper; Neil J L Gittoes
Journal:  BMJ       Date:  2008-06-07

3.  Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

Authors:  Andrew W Joseph; Ashley H Shoemaker; Emily L Germain-Lee
Journal:  J Clin Endocrinol Metab       Date:  2011-04-27       Impact factor: 5.958

4.  European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Authors:  Intza Garin; Giovanna Mantovani; Urko Aguirre; Anne Barlier; Bettina Brix; Francesca M Elli; Kathleen Freson; Virginie Grybek; Benedetta Izzi; Agnès Linglart; Guiomar Perez de Nanclares; Caroline Silve; Susanne Thiele; Ralf Werner
Journal:  Eur J Hum Genet       Date:  2014-07-09       Impact factor: 4.246

Review 5.  What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?

Authors:  Mihaela Stefan; Robert D Nicholls
Journal:  Curr Diab Rep       Date:  2004-04       Impact factor: 4.810

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

Authors:  Tamar Lubell; Maria Garzon; Kwame Anyane Yeboa; Bina Shah
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-08-06

7.  Identification of a novel mutation in a pseudohypoparathyroidism family.

Authors:  Zhi-Min Miao; Can Wang; Bin-Bin Wang; Dong-Mei Meng; Dong-Mei Su; Zhi Cheng; Qiao-Lian Wen; Lin Han; Qing Yu; Xu Ma; Chang-Gui Li
Journal:  Int J Endocrinol       Date:  2011-07-21       Impact factor: 3.257

8.  Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

Authors:  Yi-Lei Wu; Daw-Yang Hwang; Hui-Pin Hsiao; Wei-Hsin Ting; Chi-Yu Huang; Wen-Yu Tsai; Hung-Chun Chen; Mei-Chyn Chao; Fu-Sung Lo; Jeng-Daw Tsai; Stone Yang; Shin-Lin Shih; Shuan-Pei Lin; Chiung-Ling Lin; Yann-Jinn Lee
Journal:  PLoS One       Date:  2014-03-20       Impact factor: 3.240

Review 9.  Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated?

Authors:  Dogus Vuralli
Journal:  Int J Pediatr       Date:  2019-06-19

Review 10.  DNA Methylation in the Diagnosis of Monogenic Diseases.

Authors:  Flavia Cerrato; Angela Sparago; Francesca Ariani; Fulvia Brugnoletti; Luciano Calzari; Fabio Coppedè; Alessandro De Luca; Cristina Gervasini; Emiliano Giardina; Fiorella Gurrieri; Cristiana Lo Nigro; Giuseppe Merla; Monica Miozzo; Silvia Russo; Eugenio Sangiorgi; Silvia M Sirchia; Gabriella Maria Squeo; Silvia Tabano; Elisabetta Tabolacci; Isabella Torrente; Maurizio Genuardi; Giovanni Neri; Andrea Riccio
Journal:  Genes (Basel)       Date:  2020-03-26       Impact factor: 4.096
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