Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

scientific article published on 3 February 2010

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1034454916
P356DOI10.1038/EJHG.2010.5
P932PMC publication ID2987430
P698PubMed publication ID20125192
P5875ResearchGate publication ID41400198

P50authorAnita RauchQ21253643
P2093author name stringKoen Devriendt
Eberhard Schwinger
Nicole Philip
P2860cites workRole of TBX1 in human del22q11.2 syndromeQ24298685
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenQ24675242
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsQ33608641
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22qQ33622853
Prevalence of 22q11 microdeletionQ33677732
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patientsQ35249478
A population study of chromosome 22q11 deletions in infancyQ35261188
The annual incidence of DiGeorge/velocardiofacial syndromeQ41871255
22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainmentQ44517952
P433issue9
P921main subjectDiGeorge syndromeQ525642
P304page(s)1039-1043
P577publication date2010-02-03
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleClinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).
P478volume18

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cites work (P2860)
Q3698823122q11.2 deletion syndrome
Q37592803Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
Q37013092More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
Q38872392The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome

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