1994
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Friedman E, Bale A, Carson E, Boson W, Nordenskjöld M, Ritzén M, Ferreira P, Jammal A, De Marco L. Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proceedings Of The National Academy Of Sciences Of The United States Of America 1994, 91: 8457-8461. PMID: 8078903, PMCID: PMC44625, DOI: 10.1073/pnas.91.18.8457.Peer-Reviewed Original ResearchConceptsVasopressin type 2 receptor geneInheritance patternSixth transmembrane domainVasopressin type 2 receptorDisease-related genesNephrogenic diabetes insipidusGradient gel electrophoresisTransmembrane domainV2R genesType 2 receptor geneX chromosomeXq28 markersDominant inheritance patternGenesDNA sequencingDirect DNA sequencingReceptor geneGel electrophoresisMutationsUnrelated kindredsAdditional familiesRecessive mannerDisease pathogenesisLarge BrazilianAffected individualsClinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Goldstein A, Pastakia B, Digiovanna J, Poliak S, Santucci S, Kase R, Bale A, Bale S. Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC). American Journal Of Medical Genetics 1994, 50: 272-281. PMID: 8042672, DOI: 10.1002/ajmg.1320500311.Peer-Reviewed Original Research
1985
Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics
Bale A, Drum M, Parry D, Mulvihill J, Opitz J, Reynolds J. Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal Of Medical Genetics 1985, 20: 613-624. PMID: 2581446, DOI: 10.1002/ajmg.1320200407.Peer-Reviewed Original ResearchConceptsSotos syndromeAnterior cranial base angleRecessive inheritance patternDiagnostic criteriaPatient's motherCranial base angleFurther evaluationDevelopmental delayCephalometric radiographsCraniofacial characteristicsSyndromeTwo-generation familyInheritance patternMothersLower facePatientsMaxillary prominenceRadiographs