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

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

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Autism spectrum disorder in adults: diagnosis, management, and health services development Genetic Syndromes associated with Congenital Heart Disease 5p deletions: Current knowledge and future directions.Practical guidelines for managing adults with 22q11.2 deletion syndrome 22q11 deletion syndrome: current perspective.What Is New in Genetics of Congenital Heart Defects?Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.Schizophrenia-Related Microdeletion Impairs Emotional Memory through MicroRNA-Dependent Disruption of Thalamic Inputs to the Amygdala.The importance of copy number variation in congenital heart disease The genetics of Autism Spectrum Disorders--a guide for clinicians.Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome 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.A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.Keratoconus in an adult with 22q11.2 deletion syndrome Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.Copy number variants, aneuploidies, and human disease Response to clozapine in a clinically identifiable subtype of schizophrenia.Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

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

http://www.wikidata.org/entity/Q28237543

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2011 nî lūn-bûn

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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2011 թվականի օգոստոսին հրատարակված գիտական հոդված

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2011年の論文

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2011年论文

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

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

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

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

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

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The Journal of Pediatrics

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

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Paula Goldenberg

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Solveig Oskarsdottir

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Schizophrenia and 22q11.2 deletion syndrome.

Clinical guidelines: developing guidelines.

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

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