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Literature DB >> 18268261

Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.

Ronak K Kapadia¹, Anne S Bassett.

Abstract

Entities: Disease

Mesh：

Year: 2008 PMID： 18268261 PMCID： PMC2228345 DOI： 10.1503/cmaj.071300

Source DB: PubMed Journal: CMAJ ISSN： 0820-3946 Impact factor: 8.262

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4 in total

1. Clinical features of 78 adults with 22q11 Deletion Syndrome.

Authors: Anne S Bassett; Eva W C Chow; Janice Husted; Rosanna Weksberg; Oana Caluseriu; Gary D Webb; Michael A Gatzoulis
Journal: Am J Med Genet A Date: 2005-11-01 Impact factor: 2.802

Review 2. 22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors: A S Bassett; E W Chow
Journal: Biol Psychiatry Date: 1999-10-01 Impact factor: 13.382

3. Presenting phenotype in 100 children with the 22q11 deletion syndrome.

Authors: Sólveig Oskarsdóttir; Christina Persson; Bengt O Eriksson; Anders Fasth
Journal: Eur J Pediatr Date: 2004-11-23 Impact factor: 3.183

Review 4. Deletion 22q11: spectrum of associated disorders.

Authors: Beverly N Hay
Journal: Semin Pediatr Neurol Date: 2007-09 Impact factor: 1.636

4 in total

12 in total

1. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors: G Costain; E W C Chow; P N Ray; A S Bassett
Journal: J Intellect Disabil Res Date: 2011-12-06

Review 2. Schizopsychotic symptom-profiles and biomarkers: beacons in diagnostic labyrinths.

Authors: Tomas Palomo; Richard M Kostrzewa; Richard J Beninger; Trevor Archer
Journal: Neurotox Res Date: 2008-10 Impact factor: 3.911

3. Premature death in adults with 22q11.2 deletion syndrome.

Authors: A S Bassett; E W C Chow; J Husted; K A Hodgkinson; E Oechslin; L Harris; C Silversides
Journal: J Med Genet Date: 2009-02-25 Impact factor: 6.318

4. The curious case of a violently ill woman.

Authors: John H Enterman; Dyllis van Dijk
Journal: Schizophr Bull Date: 2011-09-12 Impact factor: 9.306

5. Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Authors: Anne S Bassett; Donna M McDonald-McGinn; Koen Devriendt; Maria Cristina Digilio; Paula Goldenberg; Alex Habel; Bruno Marino; Solveig Oskarsdottir; Nicole Philip; Kathleen Sullivan; Ann Swillen; Jacob Vorstman
Journal: J Pediatr Date: 2011-05-12 Impact factor: 4.406

Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.

1. Clinical features of 78 adults with 22q11 Deletion Syndrome.

Review 2. 22q11 deletion syndrome: a genetic subtype of schizophrenia.

3. Presenting phenotype in 100 children with the 22q11 deletion syndrome.

Review 4. Deletion 22q11: spectrum of associated disorders.

1. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Review 2. Schizopsychotic symptom-profiles and biomarkers: beacons in diagnostic labyrinths.

3. Premature death in adults with 22q11.2 deletion syndrome.

4. The curious case of a violently ill woman.

5. Practical guidelines for managing patients with 22q11.2 deletion syndrome.

6. Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.

7. Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.

8. Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.

9. Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.

10. Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.