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22q11 Deletion Syndrome

Known as: Syndromes, 22q11 Deletion, 22q11 Deletion Syndrome [Disease/Finding], Deletion Syndrome, 22q11 
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes… Expand
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Objective: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health… Expand
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Highly Cited
2009
Highly Cited
2009
This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion… Expand
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Highly Cited
2006
Highly Cited
2006
About 35% of patients with 22q11 deletion syndrome (22q11DS), which includes DiGeorge and velocardiofacial syndromes, develops… Expand
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Highly Cited
2004
Highly Cited
2004
Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a… Expand
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Highly Cited
2004
Highly Cited
2004
The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and… Expand
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Highly Cited
2003
Highly Cited
2003
OBJECTIVE This study investigated the schizophrenia phenotype in 24 subjects with 22q11 deletion syndrome (22qDS) and… Expand
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Highly Cited
2002
Highly Cited
2002
Deletion of chromosome 22q11, the most common microdeletion detected in humans, is associated with a life-threatening array of… Expand
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Review
2000
Review
2000
  • P. Scambler
  • Human molecular genetics
  • 2000
  • Corpus ID: 29693822
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions… Expand
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Review
1999
Review
1999
Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with… Expand
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Highly Cited
1998
Highly Cited
1998
Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a… Expand
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