Literature DB >> 24608068

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Maria Descartes1, Kitiwan Rojnueangnit, Laura Cole, Amelia Sutton, Sarah L Morgan, Lysanne Patry, Mark E Samuels.   

Abstract

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Year:  2014        PMID： 24608068     DOI： 10.1097/MCD.0000000000000034

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  17 in total

Review 1.  Notch and the regulation of osteoclast differentiation and function.

Authors:  Jungeun Yu; Ernesto Canalis
Journal:  Bone       Date:  2020-06-08       Impact factor: 4.398

Review 2.  Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.

Authors:  Ernesto Canalis; Stefano Zanotti
Journal:  Curr Osteoporos Rep       Date:  2016-08       Impact factor: 5.096

Review 3.  Notch in skeletal physiology and disease.

Authors:  E Canalis
Journal:  Osteoporos Int       Date:  2018-09-07       Impact factor: 4.507

Review 4.  Notch Signaling and the Skeleton.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Endocr Rev       Date:  2016-04-13       Impact factor: 19.871

Review 5.  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 6.  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

7.  Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.

Authors:  Ernesto Canalis; Lauren Schilling; Siu-Pok Yee; Sun-Kyeong Lee; Stefano Zanotti
Journal:  J Biol Chem       Date:  2015-12-01       Impact factor: 5.157

8.  Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.

Authors:  Giovanni Adami; Maurizio Rossini; Davide Gatti; Giovanni Orsolini; Luca Idolazzi; Ombretta Viapiana; Aldo Scarpa; Ernesto Canalis
Journal:  Bone       Date:  2016-08-31       Impact factor: 4.398

9.  Scoliosis Correction in an Adolescent With Hajdu-Cheney Syndrome: A Case Report.

Authors:  Bhavuk Garg; Nishank Mehta
Journal:  HSS J       Date:  2022-03-11

10.  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
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