Literature DB >> 20173628

A novel presentation of a rare chromosome 2p25.2 deletion.

Kristin Becker1, Charlotte Jaggard, Sarah Horrocks.   

Abstract

Mesh:

Year:  2010        PMID: 20173628     DOI: 10.1097/MCD.0b013e328337bb28

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


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  2 in total

1.  Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Authors:  Martine Doco-Fenzy; Camille Leroy; Anouck Schneider; Florence Petit; Marie-Ange Delrue; Joris Andrieux; Laurence Perrin-Sabourin; Emilie Landais; Azzedine Aboura; Jacques Puechberty; Manon Girard; Magali Tournaire; Elodie Sanchez; Caroline Rooryck; Agnès Ameil; Michel Goossens; Philippe Jonveaux; Geneviève Lefort; Laurence Taine; Dorothée Cailley; Dominique Gaillard; Bruno Leheup; Pierre Sarda; David Geneviève
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

2.  MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Authors:  Juliette Coursimault; Anne-Marie Guerrot; Michelle M Morrow; Catherine Schramm; Francisca Millan Zamora; Anita Shanmugham; Shuxi Liu; Fanggeng Zou; Frédéric Bilan; Gwenaël Le Guyader; Ange-Line Bruel; Anne-Sophie Denommé-Pichon; Laurence Faivre; Frédéric Tran Mau-Them; Marine Tessarech; Estelle Colin; Salima El Chehadeh; Bénédicte Gérard; Elise Schaefer; Benjamin Cogne; Bertrand Isidor; Mathilde Nizon; Diane Doummar; Stéphanie Valence; Delphine Héron; Boris Keren; Cyril Mignot; Charles Coutton; Françoise Devillard; Anne-Sophie Alaix; Jeanne Amiel; Laurence Colleaux; Arnold Munnich; Karine Poirier; Marlène Rio; Sophie Rondeau; Giulia Barcia; Bert Callewaert; Annelies Dheedene; Candy Kumps; Sarah Vergult; Björn Menten; Wendy K Chung; Rebecca Hernan; Austin Larson; Kelly Nori; Sarah Stewart; James Wheless; Christina Kresge; Beth A Pletcher; Roseline Caumes; Thomas Smol; Sabine Sigaudy; Christine Coubes; Margaret Helm; Rosemarie Smith; Jennifer Morrison; Patricia G Wheeler; Amy Kritzer; Guillaume Jouret; Alexandra Afenjar; Jean-François Deleuze; Robert Olaso; Anne Boland; Christine Poitou; Thierry Frebourg; Claude Houdayer; Pascale Saugier-Veber; Gaël Nicolas; François Lecoquierre
Journal:  Hum Genet       Date:  2021-11-08       Impact factor: 4.132

  2 in total

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