2001
Endocrine aspects of the 22q11.2 deletion syndrome
Weinzimer S. Endocrine aspects of the 22q11.2 deletion syndrome. Genetics In Medicine 2001, 3: 19-22. PMID: 11339371, DOI: 10.1097/00125817-200101000-00005.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleChromosome DeletionChromosomes, Human, Pair 22HumansHyperthyroidismHypocalcemiaHypothyroidismPhenotypeSyndromeTime FactorsConceptsGrowth hormone deficiencyEndocrine disturbancesEndocrine disordersHormonal disordersAppropriate screeningHormone deficiencyEndocrine aspectsEndocrinological manifestationsPatientsDiGeorge syndromeDeletion syndromeSyndromeDisordersCurrent understandingHypoparathyroidismHyperthyroidismHypothyroidismDeletion
1997
The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients. Genetic Testing And Molecular Biomarkers 1997, 1: 99-108. PMID: 10464633, DOI: 10.1089/gte.1997.1.99.Peer-Reviewed Original ResearchConceptsCayler cardiofacial syndromeCohort of patientsMajority of patientsConotruncal cardiac anomaliesConotruncal anomaly face syndromeSubmicroscopic deletionCardiac anomaliesDiagnostic workupCardiofacial syndromeOpitz G/BBB syndromePatientsSyndromeDiGeorge syndromeFace syndromeVelocardiofacial syndromeVariable phenotypeBBB syndromeChromosome 22q11.2Outcome of resultsDeletionCohortSubspecialistsWorkupClinicians