Some comments on penetrance and related subjects
1981; Wiley; Volume: 8; Issue: 3 Linguagem: Inglês
10.1002/ajmg.1320080303
ISSN1096-8628
Autores Tópico(s)Ocular Disorders and Treatments
ResumoAmerican Journal of Medical GeneticsVolume 8, Issue 3 p. 265-274 Editorial Some comments on penetrance and related subjects John M. Opitz, Corresponding Author John M. Opitz Shodair Children's Hospital, Helena, MontanaShodair Children's Hospital, Box 5539, 840 Helena Avenue, Helena, MT 59604Search for more papers by this author John M. Opitz, Corresponding Author John M. Opitz Shodair Children's Hospital, Helena, MontanaShodair Children's Hospital, Box 5539, 840 Helena Avenue, Helena, MT 59604Search for more papers by this author First published: 1981 https://doi.org/10.1002/ajmg.1320080303Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Allen G (1952): The meaning of concordance and discordance in estimation of penetrance and gene frequency. Am J Hum Genet 4: 155–172. Auerbach C (1947): The induction by mustard gas of chromosomal instabilities in D. melanogaster. Proc Roy Soc Edinb 62B: 307–319. Auerbach C (1956): A possible case of delayed mutation in man. Ann Hum Genet 20: 266–269. Carlson EA, Desnick RJ (1979): Mutational mosaicism and genetic counseling in retinoblastoma. Am J Med Genet 4: 365–381. Dahlberg G (1943): Genotypic asymmetries. Proc Roy Soc Edinb 62B: 20–31. Danforth CH (1924): Heredity of unilateral variations. Genetics 9: 199–211. Haldane JBS (1949): A test for homogeneity of records of familial abnormalities. Ann Eugen (Lond) 14: 339–341. Herrmann J (1977): Clinical aspects of gene expression. BDOAS XII/3D: 25–45. Herrmann J, Opitz JM (1977): Delayed mutation as a cause of genetic disease in man: achondroplasia and the Wiedemann-Beckwith syndrome. In WW Nichols, DG Murphy (eds): “ Regulation of Cell Proliferation and Differentiation.” New York: Plenum Press, pp 65–79. Hummel KP, Chapman DB (1959): Visceral inversion and associated anomalies in the mouse. J Hered 50: 9–13. Kaelin A (1955): Statistische Prüf-und Schätzverfahren für die relative Häufigkeit von Merkmalsträgern in Geschwisterreihen bei einem der Auslese unterworfenen Material mit Anwendung auf das Retinoblastom. Arch Julius-Klaus Stift 30: 263–485. Knudson AG Jr, (1971): Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 68: 820–823. Lasker GW (with an editorial note by Winsor CP) (1947): Penetrance estimated by the frequency of unilateral occurrence and by discordance in monozygotic twins. Hum Biol 19: 217–230. Lenz W (1970): Medizinische Genetik. Ed 2. Stuttgart, Geo Thieme Verlag. Lim JK (1979): Site-specific instability in Drosophila melanogaster: The origin of the mutation and cytogenetic evidence for site specificity. Genetics 93: 681–701. Matsunaga E (1978): Hereditary retinoblastoma: Delayed mutation of host resistance?. Am J Hum Genet 30: 406–424. Matsunaga E (1980a): Letter to the Editor: On estimating penetrance of the retinoblastoma gene. Hum Genet 56: 127–128. Matsunaga E (1980b): Host resistance and 13q-chromosomal deletion. Hum Genet 56: 53–58. Matsunaga E (1981): Retinoblastoma: Mutational mosaicism or host resistance? Am J Med Genet (in press). Moreno A, Murphy EA (1981): Inheritance of Kartagener syndrome. Am J Med Genet (this issue). Murphy EA (1964): An exploration of some effects of incomplete penetrance on the ascertainment of recessive characteristics. Doctoral Thesis, Johns Hopkins University. Murphy EA (1981): Editorial: Exhaustive partition and incomplete penetrance: Two precarious tautologies. Am J Med Genet (this issue). Murphy EA, Chase GA (1975): “ Principles of Genetic Counseling.” Chicago: Year Book Medical Publ. Reiser CA (1980): Search for premutation in achondroplasia and hypochondroplasia. Master's Thesis, University of Wisconsin-Madison. Schinz HR (1945): Konkordanz, Diskordanz und Penetranz bei eineiigen Zwillingen (Versuch einer elementaren Darstellung). Arch Julius-Klaus Stift 20: 2–25. Vogt O (1926): Psychiatrisch wichitige Tatsachen der zoologisch-botanischen Systematik. Z ges Neurol Psychiat 101: 805–832. Citing Literature Volume8, Issue31981Pages 265-274 ReferencesRelatedInformation
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