Literature DB >> 21293174

Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome.

E Passeri, M Frigerio, R Valaperta, E Costa, B Ambrosi, S Corbetta.   

Abstract

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Year:  2010        PMID： 21293174     DOI： 10.1007/bf03350353

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


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  5 in total

1.  Rapid detection of the 22q11.2 deletion with quantitative real-time PCR.

Authors:  H Kariyazono; T Ohno; K Ihara; H Igarashi; K Joh-o; S Ishikawa; T Hara
Journal:  Mol Cell Probes       Date:  2001-04       Impact factor: 2.365

2.  The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11.

Authors:  Sylvie Hiéronimus; Magali Bec-Roche; Florence Pedeutour; Jean Claude Lambert; Kathy Wagner-Malher; Jean Christophe Mas; Jean Louis Sadoul; Patrick Fénichel
Journal:  Eur J Endocrinol       Date:  2006-07       Impact factor: 6.664

Review 3.  Genetics and animal models of hypoparathyroidism.

Authors:  N Garfield; A C Karaplis
Journal:  Trends Endocrinol Metab       Date:  2001-09       Impact factor: 12.015

4.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

5.  A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

Authors:  Rosanna Weksberg; Simon Hughes; Laura Moldovan; Anne S Bassett; Eva W C Chow; Jeremy A Squire
Journal:  BMC Genomics       Date:  2005-12-13       Impact factor: 3.969
  5 in total
  2 in total

1.  Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle-aged man.

Authors:  Tomoya Okazaki; Toru Hifumi; Tomohiro Ibata; Arisa Manabe; Hideyuki Hamaya; Takuo Yoshimoto; Hitomi Imachi; Koji Murao; Kenya Kawakita; Yasuhiro Kuroda
Journal:  Acute Med Surg       Date:  2016-05-02

2.  An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.

Authors:  Yoichi Hoshino; Moriya Machida; Shun-Ichi Shimano; Teizo Taya
Journal:  Intern Med       Date:  2017-04-01       Impact factor: 1.271
  2 in total

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