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 individuals
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