Literature DB >> 16027702

Defining the clinical spectrum of deletion 22q11.2.

Nathaniel H Robin1, Robert J Shprintzen.   

Abstract

Mesh：

Year:  2005        PMID： 16027702     DOI： 10.1016/j.jpeds.2005.03.007

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


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  70 in total

1.  Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Authors:  J Wincent; D L Bruno; B W M van Bon; A Bremer; H Stewart; E M H F Bongers; C W Ockeloen; M H Willemsen; D D A Keays; G Baird; D F Newbury; T Kleefstra; C Marcelis; U Kini; Z Stark; R Savarirayan; L J Sheffield; O Zuffardi; H R Slater; B B de Vries; S J L Knight; B-M Anderlid; J Schoumans
Journal:  Mol Syndromol       Date:  2011-05-18

Review 2.  The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders.

Authors:  Liam J Drew; Gregg W Crabtree; Sander Markx; Kimberly L Stark; Florence Chaverneff; Bin Xu; Jun Mukai; Karine Fenelon; Pei-Ken Hsu; Joseph A Gogos; Maria Karayiorgou
Journal:  Int J Dev Neurosci       Date:  2010-10-08       Impact factor: 2.457

3.  22q11.2 deletion syndrome: are motor deficits more than expected for IQ level?

Authors:  Nancy J Roizen; Anne M Higgins; Kevin M Antshel; Wanda Fremont; Robert Shprintzen; Wendy R Kates
Journal:  J Pediatr       Date:  2010-06-19       Impact factor: 4.406

Review 4.  A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.

Authors:  Opal Ousley; Kimberly Rockers; Mary Lynn Dell; Karlene Coleman; Joseph F Cubells
Journal:  Curr Psychiatry Rep       Date:  2007-04       Impact factor: 5.285

5.  Acceptance and commitment therapy in genetic counselling: a case study of recurrent worry.

Authors:  Stephanie Broley
Journal:  J Genet Couns       Date:  2012-12-14       Impact factor: 2.537

Review 6.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

7.  Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

Authors:  Michael J Zeitz; Paula P Lerner; Ferhat Ay; Eric Van Nostrand; Julia D Heidmann; William S Noble; Andrew R Hoffman
Journal:  Nucleus       Date:  2013-12-05       Impact factor: 4.197

8.  Bone density assessment in a cohort of pediatric patients affected by 22q11DS.

Authors:  A Ficcadenti; F Zallocco; R Neri; L Giovannini; G Tirabassi; G Balercia
Journal:  J Endocrinol Invest       Date:  2015-04-28       Impact factor: 4.256

9.  BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Authors:  Anna Brunet; Lluís Armengol; Damià Heine; Jordi Rosell; Manel García-Aragonés; Elisabeth Gabau; Xavier Estivill; Miriam Guitart
Journal:  BMC Med Genet       Date:  2009-12-23       Impact factor: 2.103

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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