article Open AccessTop 1% cited
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
The Journal of Pediatrics · 2011 · Vol. 159(2) · pp. 332–339.e1
Anne S. Bassett✉(Centre for Addiction and Mental Health)Donna M. McDonald‐McGinnKoenraad Devriendt(KU Leuven)Maria Cristina Digilio(Bambino Gesù Children's Hospital)Paula Goldenberg(Cincinnati Children's Hospital Medical Center)Alex Habel(SickKids Foundation)Bruno Marino(Sapienza University of Rome)Sólveig Óskarsdóttir(Drottning Silvias barn- och ungdomssjukhus)Nicole Philip(Hôpital de la Timone)Kathleen E. SullivanAnn Swillen(KU Leuven)Jacob Vorstman(Utrecht University)
Congenital heart defects researchCongenital Heart Disease StudiesTracheal and airway disordersMedicineDeletion syndromeMEDLINEIntensive care medicineGeneticsPhenotypeGene
MeSH terms
ChildChromosome DeletionChromosomes, Human, Pair 22DiGeorge SyndromeGenetic CounselingGenetic TechniquesHumansMalePractice Guidelines as Topic
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References
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Journal of Medical Genetics · 1993 · 488 citations
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
Archives of Disease in Childhood · 2004 · 402 citations
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
The American Journal of Human Genetics · 2010 · 2,855 citations
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