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Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.
Opitz JM. Opitz JM. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):387-96. doi: 10.1002/ajmg.c.31420. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424868 Review.
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics. The Perrault syndrome evaluated in two families in Montana and one in Sicily for familial d …
The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transfo …
The Perrault syndrome: clinical report and review.
Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. Nishi Y, et al. Am J Med Genet. 1988 Nov;31(3):623-9. doi: 10.1002/ajmg.1320310317. Am J Med Genet. 1988. PMID: 3067578 Review.
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. ...Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysg …
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with …
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defect …
Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defe …