Literature DB >> 11836375

Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.

G Barbi1, E Rossier, S Vossbeck, H Hummler, D Lang, F Flock, R Terinde, J Wirth, W Vogel, H Kehrer-Sawatzki.   

Abstract

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Year:  2002        PMID： 11836375      PMCID： PMC1735037          DOI： 10.1136/jmg.39.2.e6

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Authors:  Christopher C Y Mak; Dan Doherty; Angela E Lin; Nancy Vegas; Megan T Cho; Géraldine Viot; Clémantine Dimartino; James D Weisfeld-Adams; Davor Lessel; Shelagh Joss; Chumei Li; Claudia Gonzaga-Jauregui; Yuri A Zarate; Nadja Ehmke; Denise Horn; Caitlin Troyer; Sarina G Kant; Youngha Lee; Gisele E Ishak; Gordon Leung; Amanda Barone Pritchard; Sandra Yang; Eric G Bend; Francesca Filippini; Chelsea Roadhouse; Nicolas Lebrun; Michele G Mehaffey; Pierre-Marie Martin; Benjamin Apple; Francisca Millan; Oliver Puk; Mariette J V Hoffer; Lindsay B Henderson; Ruth McGowan; Ingrid M Wentzensen; Steven Pei; Farah R Zahir; Mullin Yu; William T Gibson; Ann Seman; Marcie Steeves; Jill R Murrell; Sabine Luettgen; Elizabeth Francisco; Tim M Strom; Louise Amlie-Wolf; Angela M Kaindl; William G Wilson; Sara Halbach; Lina Basel-Salmon; Noa Lev-El; Jonas Denecke; Lisenka E L M Vissers; Kelly Radtke; Jamel Chelly; Elaine Zackai; Jan M Friedman; Michael J Bamshad; Deborah A Nickerson; Russell R Reid; Koenraad Devriendt; Jong-Hee Chae; Elliot Stolerman; Carey McDougall; Zöe Powis; Thierry Bienvenu; Tiong Y Tan; Naama Orenstein; William B Dobyns; Joseph T Shieh; Murim Choi; Darrel Waggoner; Karen W Gripp; Michael J Parker; Joan Stoler; Stanislas Lyonnet; Valérie Cormier-Daire; David Viskochil; Trevor L Hoffman; Jeanne Amiel; Brian H Y Chung; Christopher T Gordon
Journal:  Brain       Date:  2020-01-01       Impact factor: 13.501

2.  Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

Authors:  Jeroen Breckpot; Britt-Marie Anderlid; Yasemin Alanay; Moira Blyth; Afane Brahimi; Bénédicte Duban-Bedu; Odile Gozé; Helen Firth; Mustafa Cengiz Yakicier; Greet Hens; Maissa Rayyan; Eric Legius; Joris Robert Vermeesch; Koen Devriendt
Journal:  Eur J Hum Genet       Date:  2015-05-06       Impact factor: 4.246

Review 3.  Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

Authors:  Tom B Davidson; Pedro A Sanchez-Lara; Linda M Randolph; Mark D Krieger; Shi-Qi Wu; Ashok Panigrahy; Hiroyuki Shimada; Anat Erdreich-Epstein
Journal:  BMC Med Genet       Date:  2012-03-22       Impact factor: 2.103
  3 in total

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