Literature DB >> 23809048

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

Thomas Eggermann1, Miriam Elbracht, Carmen Schröder, Heiko Reutter, Lukas Soellner, Sabrina Spengler, Matthias Begemann.   

Abstract

Keywords:  BWS; Beckwith-Wiedemann syndrome; ICR; ID; Imprinting control region; Imprinting disorder; MLMD; Multilocus methylation defect; SRS; Silver-Russell syndrome; TNDM; Transient neonatal diabetes mellitus; UPD; Uniparental disomy

Mesh：

Year:  2013        PMID： 23809048     DOI： 10.1016/j.jpeds.2013.05.017

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  3 in total

Review 1.  An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Authors:  Daria Grafodatskaya; Sanaa Choufani; Raveen Basran; Rosanna Weksberg
Journal:  J Pediatr Genet       Date:  2016-11-10

2.  High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Authors:  Cindy Colson; Matthieu Decamp; Nicolas Gruchy; Nadia Coudray; Céline Ballandonne; Claire Bracquemart; Arnaud Molin; Hervé Mittre; Rieko Takatani; Harald Jüppner; Marie-Laure Kottler; Nicolas Richard
Journal:  Bone       Date:  2019-03-21       Impact factor: 4.398

3.  Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Authors:  Anne Rochtus; Alejandro Martin-Trujillo; Benedetta Izzi; Francesca Elli; Intza Garin; Agnes Linglart; Giovanna Mantovani; Guiomar Perez de Nanclares; Suzanne Thiele; Brigitte Decallonne; Chris Van Geet; David Monk; Kathleen Freson
Journal:  Clin Epigenetics       Date:  2016-01-26       Impact factor: 6.551
  3 in total

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