Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference48 articles.
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3. Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1;Bischoff;EMBO J,1995
4. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene;Budarf;Nat Genet,1995
5. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel;Budarf;Genomics,1996
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3. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), −22 [10];American Journal of Medical Genetics Part A;2014-04-15
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