Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

(2023) Sólveig Óskarsdóttir et al.   GENETICS IN MEDICINE

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

(2023) Natalie Blagowidow et al.   Genes

Hypertriglyceridemia in young adults with a 22q11.2 microdeletion

(2022) Christina Blagojevic et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome

(2022) Lisa D. Palmer et al.   Genes

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model

(2021) Ania M. Fiksinski et al.   PSYCHOLOGICAL MEDICINE

Prevention of Viridans Group Streptococcal Infective Endocarditis: A Scientific Statement From the American Heart Association

(2021) Walter R. Wilson et al.   CIRCULATION

Stimulant treatment effectiveness, safety and risk for psychosis in individuals with 22q11.2 deletion syndrome

(2021) Dana Basel et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

(2021) Matthew J Page et al.   BMJ-British Medical Journal

Canadian Cardiovascular Society: Clinical Practice Update on Cardiovascular Management of the Pregnant Patient

(2021) Jasmine Grewal et al.   CANADIAN JOURNAL OF CARDIOLOGY

Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient’s perspective

(2021) Kris Van de Woestyne et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Selective effects of methylphenidate on attention and inhibition in 22q11.2 deletion syndrome: results from a clinical trial

(2021) Johanna Maeder et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21

(2021) Timothy E. Nissen et al.   PEDIATRIC CARDIOLOGY

Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies

(2021) Chiara Pandolfi de Rinaldis et al.   PEDIATRIC CARDIOLOGY

Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition

(2021) Lisa D. Palmer et al.   JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES

Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

(2021) Emma N. M. M. Scheibler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study

(2021) Jorge Mauro et al.   SLEEP

22q11.2 deletion syndrome is associated with increased mortality in adults with tetralogy of Fallot and pulmonary atresia with ventricular septal defect

(2020) Dirkjan Kauw et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Impact of a 22q11.2 microdeletion on adult all-cause mortality in tetralogy of Fallot

(2020) Spencer van Mil et al.   CANADIAN JOURNAL OF CARDIOLOGY

Age‐Related Parkinsonian Signs in Microdeletion 22q11.2

(2020) Erik Boot et al.   MOVEMENT DISORDERS

Constipation screening in people taking clozapine: A diagnostic accuracy study

(2020) Susanna Every-Palmer et al.   SCHIZOPHRENIA RESEARCH

2020 ESC Guidelines for the management of adult congenital heart disease

(2020) Helmut Baumgartner et al.   EUROPEAN HEART JOURNAL

Medical and dental characteristics of children with chromosome 22q11.2 deletion syndrome at the Royal Children’s Hospital, Melbourne

(2020) Deborah H. Wong et al.   International Journal of Paediatric Dentistry

Low prevalence of substance use in people with 22q11.2 deletion syndrome

(2019) Claudia Vingerhoets et al.   BRITISH JOURNAL OF PSYCHIATRY

Lower cortisol levels and attenuated cortisol reactivity to daily-life stressors in adults with 22q11.2 deletion syndrome

(2019) Esther D.A. van Duin et al.   PSYCHONEUROENDOCRINOLOGY

Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review

(2019) Mariela Mosheva et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

(2019) Lily Van et al.   GENETICS IN MEDICINE

A genetic model for multimorbidity in young adults

(2019) Sarah L. Malecki et al.   GENETICS IN MEDICINE

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

(2019) Weicheng Chen et al.   Molecular Genetics & Genomic Medicine

Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review

(2019) Janna Boer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

(2019) Marta Unolt et al.   GENETICS IN MEDICINE

Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome

(2019) Erez T. Yirmiya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bernard–Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome

(2019) João Tadeu Damian Souto Filho et al.   BLOOD COAGULATION & FIBRINOLYSIS

Participatory development of a patient–clinician communication tool to enhance healthcare transitions for young people with 22q11.2

(2019) Lorna Kerin et al.   IRISH JOURNAL OF MEDICAL SCIENCE

Transition to Adult Care

(2019) John Berens et al.   Physical Medicine and Rehabilitation Clinics of North America

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

(2018) Marta Unolt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

(2018) Nancy J. Butcher et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Scoliosis in association with the 22q11.2 deletion syndrome: an observational study

(2018) Jelle F Homans et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome

(2018) Mariela Mosheva et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

(2018) Marta Unolt et al.   European Journal of Medical Genetics

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

(2018) Erik Boot et al.   NEUROLOGY

Coping Strategies Mediate the Effect of Stressful Life Events on Schizotypal Traits and Psychotic Symptoms in 22q11.2 Deletion Syndrome

(2018) Marco Armando et al.   SCHIZOPHRENIA BULLETIN

22q and two: 22q11.2 deletion syndrome and coexisting conditions

(2018) Jennifer L. Cohen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy

(2018) Vera Regitz-Zagrosek et al.   EUROPEAN HEART JOURNAL

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

(2018) Jennifer N. Dines et al.   GENETICS IN MEDICINE

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia

(2018) A. M. Fiksinski et al.   PSYCHOLOGICAL MEDICINE

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

(2018) Maria Niarchou et al.   SCHIZOPHRENIA RESEARCH

Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration

(2018) Arezoo Rezazadeh et al.   Annals of Clinical and Translational Neurology

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

(2018) Ian M. Campbell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular genetics of 22q11.2 deletion syndrome

(2018) Bernice E. Morrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

(2018) Yingjie Zhao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome

(2018) Jason P. Van Batavia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy

(2017) Robert G. Wither et al.   EPILEPSIA

The Effectiveness and Safety of Antipsychotic and Antidepressant Medications in Individuals with 22q11.2 Deletion Syndrome

(2017) Netta Dori et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

Hyposmia, symptoms of rapid eye movement sleep behavior disorder, and parkinsonian motor signs suggest prodromal neurodegeneration in 22q11 deletion syndrome

(2017) Ellen Buckley et al.   NEUROREPORT

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

(2017) Esther Lopez-Rivera et al.   NEW ENGLAND JOURNAL OF MEDICINE

Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment

(2017) B. Dufournet et al.   REVUE NEUROLOGIQUE

Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study

(2017) A.M. Fiksinski et al.   SCHIZOPHRENIA RESEARCH

Obesity in adults with 22q11.2 deletion syndrome

(2016) Sarah L. Voll et al.   GENETICS IN MEDICINE

Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

(2016) Eun-Hee Kim et al.   Journal of Clinical Neurology

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

(2016) Kin Y Mok et al.   LANCET NEUROLOGY

Efficacité et bonne tolérance du rituximab sur un purpura thrombopénique immunologique chronique révélant un syndrome de délétion 22q11

(2016) M. Vautier et al.   REVUE DE MEDECINE INTERNE

Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population—A Nationwide Register Study

(2016) Anders Vangkilde et al.   SCHIZOPHRENIA BULLETIN

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

(2015) Erik Boot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Response to clozapine in a clinically identifiable subtype of schizophrenia

(2015) Nancy J. Butcher et al.   BRITISH JOURNAL OF PSYCHIATRY

Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction

(2015) Carrie Stransky et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

(2015) Rachel D. Burnside   CYTOGENETIC AND GENOME RESEARCH

2015 ESC Guidelines for the management of infective endocarditis

(2015) Gilbert Habib et al.   EUROPEAN HEART JOURNAL

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

(2015) Céline Poirsier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome

(2015) Lily Van et al.   GENETICS IN MEDICINE

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

(2015) Wai Lun Alan Fung et al.   GENETICS IN MEDICINE

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

(2015) Eleonora Napoli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impact of Psychiatric Comorbidity and Cognitive Deficit on Function in 22q11.2 Deletion Syndrome

(2015) James J. Yi et al.   JOURNAL OF CLINICAL PSYCHIATRY

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project

(2015) Sarah J. Hart et al.   Journal of Genetic Counseling

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

(2015) Chrystal Chan et al.   Journal of Genetic Counseling

Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction

(2015) Carrie Stransky et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Interventions to improve the appropriate use of polypharmacy in older people: a Cochrane systematic review

(2015) Janine A Cooper et al.   BMJ Open

Evolution of Genetic Techniques: Past, Present, and Beyond

(2015) Asude Alpman Durmaz et al.   Biomed Research International

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

(2015) Jacob A. S. Vorstman et al.   JAMA Psychiatry

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

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

(2014) Maude Schneider et al.   AMERICAN JOURNAL OF PSYCHIATRY

Hippocampal Malrotation is Associated with Chromosome 22q11.2 Microdeletion

(2014) Danielle M. Andrade et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

(2014) Evelyn Ning Man Cheung et al.   CLINICAL ENDOCRINOLOGY

Surgical Considerations in 22Q11.2 Deletion Syndrome

(2014) Richard E. Kirschner et al.   CLINICS IN PLASTIC SURGERY

Presenting symptoms in adults with the 22q11 deletion syndrome

(2014) Annick Vogels et al.   European Journal of Medical Genetics

Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature

(2014) Moussab Damlaj et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

(2014) Gabriela M Repetto et al.   BMJ Open

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

(2013) Maria Delio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Insomnia

(2013) Daniel J. Buysse   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

(2013) Shinji Kunishima et al.   PEDIATRICS INTERNATIONAL

Emotional Development in Adults with Autism and Intellectual Disabilities: A Retrospective, Clinical Analysis

(2013) Tanja Sappok et al.   PLoS One

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

(2013) Nancy J. Butcher et al.   JAMA Neurology

Antibody deficiency in adults with 22q11.2 deletion syndrome

(2012) Aron H. Björk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Speech and hearing in adults with 22q11.2 deletion syndrome

(2012) Christina Persson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional outcomes of adults with 22q11.2 deletion syndrome

(2012) Nancy J. Butcher et al.   GENETICS IN MEDICINE

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

(2012) Nicole Martin et al.   Journal of Genetic Counseling

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Epidemiology of multimorbidity and implications for health care, research, and medical education: a cross-sectional study

(2012) Karen Barnett et al.   LANCET

Dental developmental disturbances in 50 individuals with the 22q11.2 deletion syndrome; relation to medical conditions?

(2011) Hilde Nordgarden et al.   ACTA ODONTOLOGICA SCANDINAVICA

Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome

(2011) Kari Lima et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Epstein-Barr virus–positive T-cell lymphoma cells having chromosome 22q11.2 deletion: an autopsy report of DiGeorge syndrome

(2011) Shigemi Itoh et al.   HUMAN PATHOLOGY

A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Abbas F. Jawad et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

(2011) G. Costain et al.   JOURNAL OF MEDICAL GENETICS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

(2010) Natascia Anastasio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Elevated Prevalence of Generalized Anxiety Disorder in Adults With 22q11.2 Deletion Syndrome

(2010) Wai Lun Alan Fung et al.   AMERICAN JOURNAL OF PSYCHIATRY

Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11)

(2010) Stefano Stagi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

(2010) Florence Bretelle et al.   European Journal of Medical Genetics

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation

(2010) Aravindhan Veerapandiyan et al.   European Journal of Medical Genetics

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

(2010) Tracy Busse et al.   HUMAN MUTATION

Aortic root dilation in patients with 22q11.2 deletion syndrome

(2009) Anitha S. John et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Premature death in adults with 22q11.2 deletion syndrome

(2009) A S Bassett et al.   JOURNAL OF MEDICAL GENETICS

Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study

(2008) Laura Hercher et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic counseling for the 22q11.2 deletion

(2008) Donna M. McDonald-McGinn et al.   Developmental Disabilities Research Reviews

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome

(2008) Gisele da Silva Dalben et al.   ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS

GRADE: an emerging consensus on rating quality of evidence and strength of recommendations

(2008) Gordon H Guyatt et al.   BMJ-British Medical Journal