Literature DB >> 20162865

The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age.

L J M Evers1, C E M De Die-Smulders, E E J Smeets, M G M Clerkx, L M G Curfs.   

Abstract

The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age: Deletion 22q11.2 syndrome, or the velo-cardio-facial syndrome (VCFS), is a syndrome with a known but varied clinical and behavioral phenotype. We report 7 patients with 22q11.2 deletion syndrome and an intellectual disability. Aside from the described behavioral phenotype in literature, a moderate, severe or profound intellectual disability may be present. Special attention should be given to cognitive deterioration.

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Year:  2009        PMID: 20162865

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  8 in total

1.  The use of two different MLPA kits in 22q11.2 deletion syndrome.

Authors:  L J M Evers; J J M Engelen; L M H Houben; L M G Curfs; T A M J van Amelsvoort
Journal:  Eur J Med Genet       Date:  2016-02-24       Impact factor: 2.708

Review 2.  Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.

Authors:  Ania M Fiksinski; Maude Schneider; Clodagh M Murphy; Marco Armando; Stefano Vicari; Jaume M Canyelles; Doron Gothelf; Stephan Eliez; Elemi J Breetvelt; Celso Arango; Jacob A S Vorstman
Journal:  Am J Med Genet A       Date:  2018-09-08       Impact factor: 2.802

3.  Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Authors:  Avishai A Alkalay; Tingwei Guo; Cristina Montagna; M Cristina Digilio; Bruno Dallapiccola; Bruno Marino; Bernice Morrow
Journal:  Am J Med Genet A       Date:  2011-02-18       Impact factor: 2.802

4.  Functional outcomes of adults with 22q11.2 deletion syndrome.

Authors:  Nancy J Butcher; Eva W C Chow; Gregory Costain; Dominique Karas; Andrew Ho; Anne S Bassett
Journal:  Genet Med       Date:  2012-06-28       Impact factor: 8.822

Review 5.  From murine to human nude/SCID: the thymus, T-cell development and the missing link.

Authors:  Rosa Romano; Loredana Palamaro; Anna Fusco; Leucio Iannace; Stefano Maio; Ilaria Vigliano; Giuliana Giardino; Claudio Pignata
Journal:  Clin Dev Immunol       Date:  2012-03-05

Review 6.  Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Authors:  Maude Schneider; Martin Debbané; Anne S Bassett; Eva W C Chow; Wai Lun Alan Fung; Marianne van den Bree; Michael Owen; Kieran C Murphy; Maria Niarchou; Wendy R Kates; Kevin M Antshel; Wanda Fremont; Donna M McDonald-McGinn; Raquel E Gur; Elaine H Zackai; Jacob Vorstman; Sasja N Duijff; Petra W J Klaassen; Ann Swillen; Doron Gothelf; Tamar Green; Abraham Weizman; Therese Van Amelsvoort; Laurens Evers; Erik Boot; Vandana Shashi; Stephen R Hooper; Carrie E Bearden; Maria Jalbrzikowski; Marco Armando; Stefano Vicari; Declan G Murphy; Opal Ousley; Linda E Campbell; Tony J Simon; Stephan Eliez
Journal:  Am J Psychiatry       Date:  2014-06       Impact factor: 18.112

7.  Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome.

Authors:  A Starnawska; C S Hansen; T Sparsø; W Mazin; L Olsen; M Bertalan; A Buil; J Bybjerg-Grauholm; M Bækvad-Hansen; D M Hougaard; P B Mortensen; C B Pedersen; M Nyegaard; T Werge; S Weinsheimer
Journal:  Transl Psychiatry       Date:  2017-08-29       Impact factor: 6.222

Review 8.  Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.

Authors:  Ania M Fiksinski; Maude Schneider; Janneke Zinkstok; Danielle Baribeau; Samuel J R A Chawner; Jacob A S Vorstman
Journal:  Curr Psychiatry Rep       Date:  2021-02-24       Impact factor: 5.285

  8 in total

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