Literature DB >> 23117206

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.

Ioannis P Stathopoulos1, George Trovas, Kalliopi Lampropoulou-Adamidou, Theodora Koromila, Panagoula Kollia, Nikolaos A Papaioannou, George Lyritis.   

Abstract

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder characterised by acro-osteolysis, skull deformation and generalised osteoporosis. Recently, truncating mutations in the last exon of NOTCH2, a protein-coding gene, were found to be responsible. We present the case of a young woman with HCS in whom clinical and radiologic diagnosis was confirmed with DNA tests.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 23117206     DOI： 10.1016/j.bone.2012.10.027

Source DB:  PubMed          Journal:  Bone        ISSN： 1873-2763            Impact factor:   4.398


  15 in total

Review 1.  Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.

Authors:  Ernesto Canalis
Journal:  Metabolism       Date:  2017-08-24       Impact factor: 8.694

Review 2.  Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

Authors:  Colin Y L Woon; Steven M Mardjetko
Journal:  Eur Spine J       Date:  2017-11-04       Impact factor: 3.134

Review 3.  Mammalian Polycistronic mRNAs and Disease.

Authors:  Timofey A Karginov; Daniel Parviz Hejazi Pastor; Bert L Semler; Christopher M Gomez
Journal:  Trends Genet       Date:  2016-12-21       Impact factor: 11.639

Review 4.  Hajdu-Cheney syndrome: a case report with review of literature.

Authors:  Shailesh Palav; Jeevan Vernekar; Sweta Pereira; Ankush Desai
Journal:  J Radiol Case Rep       Date:  2014-09-30

5.  Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.

Authors:  Sophia Sakka; Rachel I Gafni; Justin H Davies; Bart Clarke; Peter Tebben; Mark Samuels; Vrinda Saraff; Klaus Klaushofer; Nadja Fratzl-Zelman; Paul Roschger; Frank Rauch; Wolfgang Högler
Journal:  J Clin Endocrinol Metab       Date:  2017-11-01       Impact factor: 5.958

6.  One-bone forearm procedure for Hajdu-Cheney syndrome: a case report.

Authors:  Abdo Bachoura; Sidney M Jacoby; A Lee Osterman
Journal:  Hand (N Y)       Date:  2013-12

7.  Capillaroscopic findings in a case of Hajdu-Cheney syndrome.

Authors:  L-O Damian; S-P Simon; I Filipescu; C Bocsa; C Botar-Jid; S Rednic
Journal:  Osteoporos Int       Date:  2015-09-23       Impact factor: 4.507

Review 8.  The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Authors:  Stefano Stagi; Loredana Cavalli; Salvatore Seminara; Maurizio de Martino; Maria Luisa Brandi
Journal:  Ital J Pediatr       Date:  2014-06-07       Impact factor: 2.638

9.  An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

Authors:  Gil-Ho Lee; So-Yeon An; Young Bae Sohn; Seon-Yong Jeong; Yoon-Sok Chung
Journal:  J Korean Med Sci       Date:  2013-10-31       Impact factor: 2.153

Review 10.  Hajdu-Cheney syndrome: a review.

Authors:  Ernesto Canalis; Stefano Zanotti
Journal:  Orphanet J Rare Dis       Date:  2014-12-10       Impact factor: 4.123
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