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
1997
A syndrome of congenital hyperinsulinism and hyperammonemia
Weinzimer S, Stanley C, Berry G, Yudkoff M, Tuchman M, Thornton P. A syndrome of congenital hyperinsulinism and hyperammonemia. The Journal Of Pediatrics 1997, 130: 661-664. PMID: 9108870, DOI: 10.1016/s0022-3476(97)70256-7.Peer-Reviewed Original ResearchConceptsCongenital hyperinsulinismLarge glycemic responseAcid levelsFree fatty acid levelsUrea cycle enzyme defectsElevated insulin levelsDiagnosis of hyperinsulinismUrinary amino acidsOrotic acid levelsUrinary orotic acid levelsAdministration of glucagonFatty acid levelsAutosomal recessive variantInsulin levelsBenzoate therapyProtein restrictionInsulin secretionUnusual syndromeUrinary organic acidsHyperammonemic disordersGlycemic responseHyperinsulinismPatientsProtein feedingRecessive variantsThe 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