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 ResearchConceptsGrowth hormone deficiencyEndocrine disturbancesEndocrine disordersHormonal disordersAppropriate screeningHormone deficiencyEndocrine aspectsEndocrinological manifestationsPatientsDiGeorge syndromeDeletion syndromeSyndromeDisordersCurrent understandingHypoparathyroidismHyperthyroidismHypothyroidismDeletion
1998
Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype
Weinzimer S, McDonald-McGinn D, Driscoll D, Emanuel B, Zackai E, Moshang T. Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype. Pediatrics 1998, 101: 929-932. PMID: 9565428, DOI: 10.1542/peds.101.5.929.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyShort statureCardiac anomaliesHormone deficiencyVelocardiofacial syndromeLike growth factor I axisProvocative growth hormone testingT-cell abnormalitiesGrowth hormone therapyGrowth hormone testingFinal height predictionConotruncal cardiac anomaliesThird of childrenConotruncal anomaly face syndromeMild facial dysmorphiaHormone therapyPituitary anatomyHormone testingPituitary abnormalitiesI axisThymic aplasiaCell abnormalitiesGeneral populationPatientsDiGeorge sequence
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