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Arthritis and Rheumatism|March 1, 1997
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)K E Sullivan, D M McDonald-McGinn, D A Driscoll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 3, 2001
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysisK W Gripp, V Kasparcova, D M McDonald-McGinn, et al.
Human Molecular Genetics|December 1, 1994
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneityN H Robin, G J Feldman, H F Mitchell, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
European Journal of Medical Genetics|February 16, 2018
Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndromeMarta Unolt, Jessica Barry, Maria Cristina Digilio, et al.
JAMA Psychiatry|May 19, 2021
Association of Mitochondrial Biogenesis With Variable Penetrance of SchizophreniaJianping Li, Oanh T Tran, T Blaine Crowley, et al.
American Journal of Medical Genetics. Part A|April 3, 2026
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the LiteratureAlex F Nisbet, Sylvie A Adams, Zoe S Katz, et al.
Psychiatry Research|December 28, 2024
Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndromeMargaret C Souders, Donna M McDonald-McGinn, Kosha Ruparel, et al.
American Journal of Medical Genetics. Part A|January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel featuresTugce B Balci, Alana Strong, Jennifer M Kalish, et al.
American Journal of Medical Genetics. Part A|May 7, 2011
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCREmily Spencer, Julia Davis, Fady Mikhail, et al.
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