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292. Alter V., Albisqueta J. A., Perez A., Martin M. A., Goday C., Del Mazo J. (1975). A case of trisomy 8 mossaicism 47, XY, + 8/46, XX, Clin. Genet., 7, 232-237.

293. Anderson S., Bankier А. Т., Barrel B. G., de Bruyn M. H. L, Coulson A. R., Dromin J., Eperon I. C., Nierlich D. P., Rue B. A., Sanger F., Schreier P. H., Smith A. J. H., Staden R., Young I. G. (1981). Science and organization of the human mitochondrial genome, Nature, 290, 457-465.

294. Angell R. R., Hitken R. J., van Look P. F. A., Lumsden M. A., Templeton A. A. (1983). Chromosome abnormalities in human embryos after in vitro fertilization, Nature, 303, 336-338.

295. Appelhans H., Vosberg H.-P. (1984). Characterization of a human genomic DNA fragment coding for a myosin heavy chain, Hum. Genet.

296. Arber W. (1979). Promotion and limitation of genetic exchange, Science, 205, 361-365.

297. Arnold J. (1879). Beobachtungen uber Kernteilungen in den Zellen der Geschwulste, Virchows Arch. [Pathol. Anat.], 78, 279.

297a. Balkan W., Martin R. H. (1983). Chromosome segreration into the spermatozoa of two men heterozygous for different regional translocations, Hum. Genet., 63, 345-348.

298. Barr M. L., Bertram L. F. (1949). A morphological distinction between neurones of the male and the female and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis, Nature, 163, 676-677.

299. Berg P. (1981). Dissections and reconstructions of genes and chromosomes, Science, 213, 296-303.

300. Berger R., Tonati G., Derre J., Ortiz M. A., Martinelli J. (1974). Cri du chat syndrome with maternal insertional translocation, Clin. Genet., 5, 428-432.

301. Bergsma D. (ed.) (1974). Urinary system and others, Birth Defects, 10, (4), Part XVI, Williams and Wilkins, Baltimore.

302. Beutler E. (1963). Autosomal inactivation, Lancet, I, 1242.

303. Beutler E. (1964). Gene inactivation: The distribution of gene products among popoulations of cells in heterozygous humans, Cold. Spring Harbor Symp. Quant. Biol, 29, 261.

304. Beutler F., Yeh M., Fairbanks V.F. (1962). The normal human female as a mosaic of X chromosome activity: Strudies using the gene for G-6-PD as a marker, Proc. Natl. Acad. Sci. USA 48 9.

305. Blanc H., Chen K.-H., D'Amore M. A., Wallace D. C. (1983). Amino acid caange associated with the major polymorphic Hinc II site of Oriental and Caucasian Mitochondrial DNAs, Americ. J. Hum. Genet, 35, 167-176.

306. Bochkov N. P., Kuleshov N. P., Cheboratev A. N., AlekhinV.L, MidianS.A. (1974). Population cytogenetic investigation of newborns in Moscow, Hum. Genet., 22, 139-152.

307. Bodmer W. F. (1981). The William Allan Memorial Award Adress: Gene clusters, genome organization and complex phenotypes. When the sequence is known, what will it mean? Amer. J. Hum. Genet., 33, 664-682.

308. Book J. A., Santesson B. (1960). Malformation syndrome in man associated with triploidy (69 chromosomes), Lanset, I, 858-859.

309. Born G., Grutzner P., Hemminger H. J. (1976). Evidenz fur eine Mosaikstruktur der Netzhaut bei Konduktorinnen fur Dichromasie, Hum. Genet., 32, 189-196.

310. Boue J., Barichard F., Deluchat C., Der Sarkissian H., Galano P., Boue A. (1981). Diagnostic prenatal des anomalies de la structure chromosomique. 226 observations, La Nouvelle Presse Medicale, 10, 3299-3301.

311. Bridges C. B. (1916). Nondisjunction as proof on the chromosome theory of heredity, Genetics, I, 1-52; 107-163.

312. Brisson N., Verma D. P. S. (1982). Soybean leghemoglobin gene family: Normal, pseudo, and truncated genes, Proc. Natl. Acad. Sci. USA, 79, 4055-4059.

313. Brown S. W. (1966). Heterochromatin, Science, 151, 417-435.

314. Brownlee G. G., Rizza A. (1984). Clotting factor VIII cloned, Nature, 312, 307.

315. Buhler E. M. (1980). A synapsis of the human Y chromosome, Hum. Genet, 55, 145-175.

315a. Burgoyne P. S. (1986). Mammalian X and Y crossover, Nature, 319, 258-259.

316. Cerr D. H. (1970c). Chromosome studies in selected spontaneous a abortions. I. Conception after oral contraceptives, Can. Med. Assoc. J., 103, 343-348.

317. Can D. H. (1971). Chromosomes and abortion, Adv. Hum. Genet, 2, 201-257.

318. Carr D. H. (1967). Chromosome anomalies as a cause of spontaneous abortion, Am. J. Obstet Gynecol, 97, 283.

319. Carter C. O., Hamerton J. L., PolaniP. E., Gunalp A., Weller S. D. V. (1960). Chromosome translocation as a cause familian mongolism, Lancet, II, 678-680.

320. Caspersson Т., de la Chapelle S., Foley G. E., Kudynowski J., Modest E. J., Simonsson E., Wagh V., Zecht L. (1968). Chemical differentiation along metaphase chromosomes, Exp. Cell. Res., 49, 219.

321. Cattanach B. M. (1975). Control of chromosome inactivation, Ann. Rev. Genet, 9, 1-18.

322. Chadefaux В., Allord D., Rethore M. O., Rami O., Poissonier M., Gilgenkrautz S., Cheruy C., Jerdme H. (1984). Assignment of Human phosphoribosylglycinamide synthetase locus to region 21q 22.1. Hum. Genet., 66, 190-192.

323. Chapelle A. de la, Schroder J., Stensand K., Fel-Iman J., Herva R., Saarni M., Auttonainen L, Tallila L., Tervilae L., Husa L., Tallquist G., Robson E. B., Cook P. J. L., Sanger R. (1974). Pericentric inversion of human chromosomes 9 and 10, Am. J. Hum. Genet., 26, 746-765.

324. Clendenin T. M., Benirschke K. (1963). Chromosome studies on spontaneous abortions, Lab. Invest., 12, 1281-1292.

325. Cohen M. M., Shaw M. W. (1964). Effects of mitomycin С on human chromosomes, J. Cell. Biol, 23, 386-395.

326. Cohen M. M. (1971). The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography, Am. Genet. (Paris), 14, 87-96.

327. Collman R. D., Stoller A. (1963). A life table for mongols in Victoria, J. Ment. Defic. Res., 7, 53.

328. Cooper D. N., Scgmidtke J. (1984). DNA restriction fragment length polymorphism and heterozygosity in the human genome. Hum. Genet, 66, 1-16.

328a. Cooper D. N., Schmidtke J. (1986). Diagnosis of genetic disease using recombinant DNA, Hum. Genet, 73, 1-11.

329. Creasy M. R., Crolla J. A., Alberman E. D. (1976). A cytogenetic study of human spontaneous abortions using banding techniques, Hum. Genet, 31, 177-196.

330. Cremer C., Cray J. W., Ropers H.-H. (1982). Flow cytometric charactirization of a Chinese hamster x man hybrid cell line retaining the human Y chromosome, Hum. Genet, 60, 262-266.

331. Davidson W. M., Smith D. R. (1954). The nuclear sex of leucocytes. In: Overzier (ed.), Intersexuality, pp. 72-85, Academic Press, New York.

332. Davies K. E. (1981). The applications of DNA recombinant technology to the analysis of the human genome and genetic disease, Hum. Genet, 58, 351-357.

333. Davies K. E., Young B. D., Elles R. G., Hill M. E., Williamson R. (1981). Cloning of a representative genomic library of the human X chromosome after sorting by flow cutometry, Nature, 293, 374-375.

334. Davis J. R., Rogers В. В., Hageman R. M., Thies C. A., Veomett I. C. (1985). Balanced reciprocal translocations: risk factors for aneuploid segregant viability, Clin., Genet, 27, 1-19.

335. Delhanty J. A., Ellis J. R., Rowley P. T. (1961). Triploid cells in a human embryo, Lancet I, 1286.

336. Denaro M., Blanc H., Johnson M. J., Chen K. H., Wilmsen E., Cavalli-Sforza L. L., Wallace D. С (1981). Ethnic variation in Hp I endonuclease cleavage patterns of human mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 78, 5768-5772.

337. Drets M. E., Shaw M. W. (1971). Specific banding patterns of human chromosomes, Proc. Natl. Acad. Sci. USA, 68, 2073.

338. Ducos J., Marty Y., Sanger R., Rece R. R. (1971). Xg and X chromosome inactivation, Lancet, П, 219-220.

339. Dutrillaux B. (1973). Nouveau systeme de marquage chromosomique: Les bandes T. Chromosoma, 41, 395.

340. Dutrillaux В., Laurent C., Robert J. M., Lejeune J. (1973). Inversion pericentrique, inv (10), chez la mere et aneusomie de recombinaison, inv (10), rec (10), chez son ills, Cytogenet. Cell Genet, 12, 245-253.

341. Dutrillaux В., Lejeune J. (1975). New techniques in the study of human chromosomes: Methods and applocations, Adv. Hum. Genet., 5, 119 156.

342. Dutrillaux В., Viegas-Peguignot E., Aurias A., Mouthuy M., Prieur M. (1981). Non random position of metaphasic chromosomes: A study of radiation induced and constitutional chromosome rearrangements, Hum. Genet., 59, 208-210.

343. Edwards J. H., Harnden J. C., Cameron A. H., Crosse V. M., Wolff O. H. (1960). A new trisomic syndrome, Lancet, I, 787.

344. Engel J., Gunning P., Kedes L. (1982). Human actin proteins as encoded by a multigene family. In: Pearson M. L., Epstein H. F. (eds), Muscle development, molecular ans cellular control, pp. 107-117, Cold Spring Harbor Lab. Cold Sprind Harbor, New York.

345. Epstein C. J. (1969). Mammalian oocytes: X chromosome activity, Science, 163, 1078.

346. Evans H. J. (1977). Chromosome anomalies among livebirth, J. Med. Genet, 14, 309-314.

347. Fincham J. R. S., Sastry G. R. K. (1974). Controlling elements in maize, Ann. Rev. Genet, 8, 15-50.

348. Flemming W. (1882). Beitrage zur Kenntnis der Zelle und ihrer Lebensscheinungen. III. Arch. Mikr. Anat, 20, 1.

349. Flemming W. (1897). Uber die Chromosomenzahl beim Menschen, Anat. Anz., 14, 171.

350. Ford C. E. (1969). Mosaics and chimaeras, Br. Med. Bull, 25, 104-109.

351. Ford С. E., Hamerton J. L. (1956). The chromosomes of man, Nature, 178, 1020-1023.

352. Ford C. E., Miller O. J., Polani P. E., Almeida J. C. de, Briggs J. H. (1959). A sexchromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome), Lancet, I, 711-713.

353. Fraccaro M., Kaijser K., Lindsten J. (1959). Chromosome complement in gonadal dysgenesis (Turner's syndrome), Lancet, I, 886.

354. Fraccaro M., Kaijser K., Lindsten J. (1960). Chromosomal abnormalities in father and mongoloid child, Lancet, I, 724-727.

355. Fraccaro M., Lindsten J., Ford С. Е., Iselius L. (in cooperation with many other scientists) (1980). The llq; 22q translocation: A European collaborative analysis of 43 classes, Hum. Genet., 56, 21-51.

356. Gartler S. M., Chen S.-H. Fialkow P. J., Giblett E.R. Singh S. (1972). X-chromosome inactivation in cells from an individual heterozygous for two X-linked genes, Nature, 236, 149.

357. Gartler S. M., Riggs A. D. (1983). Mammallian X-chromosome inactivation, Ann. Rev. Genet., 17, 155-190.

358. Gartler S. M., Sparkes R. S. (1963). The Lyon-Beutler hyrothesis and isochromosome X patients with the Turner Syndrome, Lancet, II, 411.

358A. Geissler E. (1984). Movable DNA elements and evolution. In: Geissler E., Scheler W. (eds.), Darwin today. VIII. Kuhlungsborner Kolloquium, Akademie-Verlag, Berlin.

359. German J., Archibald R., Bloom D. (1965). Chromosomal breakage in a rare and probably genetically determined syndrome of man, Science, 148, 506.

360. Giles R. E., Blanc H., Cann H. M., Wallace D. L. (1980). Maternal inheritance of human mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 77, 6715-6719.

361. Gitschier J., Wood W. I., GoralkaT.M., Wion K. L., Chen E. Y, Eaton D. H., Vehar G. A., Capon D. J., Lawn R. M. (1984). Characterization of the human factor VIII gene, Nature, 312, 326-330.

362. Gitschier J., Wood W. I., Tuddenham E. G. D., Shuman M. A., Goralka T. M., Chen E. Y., Lawn R. M. (1985). Detection and sequence of mutations in the factor VIII gene of haemophiliacs, Nature, 315, 427-430.

363. Goodpasture C., Bloom S. E. (1975). Visualization of nuclear organizer regions in mammalian chromosomes using silver staining, Chromosoma, 53, 37-50.

364. Gray J. W., Langlois R. G., Carrano A. V., Burkhart-Schulte K., Van Dilla M. A. (1979). High resolution chromosome analysis: One and two parameter flow cytometry, Chromosoma, 73, 9-27.

365. Green M. M. (1980). Transposable elements in Drosophila and other diptera, Ann. Rev. Genet., 14, 109-120.

366. Grossman L., Moldave K. (1980). Methods in Enzymology, Vol. 65, Part I, Nucleic Acids, Academic Press, New York.

367. Grouchy J. de, Lamy M., Thieffry S., Arthuis M., Salmon C. (1963). Dysmorphic complexe avec oligophrenic Deletion des bras courts d'un chromosome 17-18, CR Acd. Sci. (Paris), 256, 1028-1029.

368. Gruneberg H. (1966). The case for somatic crossing over in the mouse, Genet. Res., 7, 58-75.

369. Gusella J. F., Wexler N. S., Coneally P. M., Nyler S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y, Young А. В., Shoulson I., Bonilla E., Martin J.B. (1983). A polymorphic DNA marker genetically linked to Huntington's disease, Nature, 306, 234-238.

370. Habedank M., Rodewald A. (1982). Moderate Down's syndrome in three siblings having partial Trisomy 21q22.2 and therefore no SOD-I excess. Hum. Genet., 60, 74-77.

371. Hagemeijer A., Smith E. M. E. (1977). Partial trisomy 21. Further evidence taat trisomy of band 21q22 is essential for Down's phenotype, Hum. Genet., 38, 15-23.

372. Haldane J. B. S. (1936). A search for incomplete sex linkage in man, Ann. Eugen, 7, 28-57.

373. Hamerton J. L. (1968). Robertsonian translocation in man, Evidence for prezygotic selection, Cytogenetics, 7, 260-276.

374. Hamerton J. L., Ray M., Abbot J., Williamson C., Durcasse G. C. (1972). Chromosome studies in a neonatal population, Can. Med. Assoc. J., 106, 776-779.

375. Hanauer A., Levin M., Heilig R., Daegelen D., Kahn A., Mandel J.L. (1983). Isolation and characterization of DNA clones for human skeletal muscle alphaactin, Nucleic Acid Res., 11, 3503-3516.

376. Harnden D. G., Lindsten J. E., Buckton K., Klinger H. P. (1981). An international system for human cytogenetic nomenclature. High resolution Banding, Birth Defects: Original Article Series, Vol. XVII, No. 5.

377. Harper M. E. Ullrich A., Saunders G. F. (1981). Localization of the human insulin gene to the distal end of the short arm of chromosome 11, Proc. Natl. Acad. Sci. USA, 78, 4458-4460.

378. Hecht F., Jacky P. B., Sutherland G. R. (1982). The fragile X chromosome, Amer J. Hum. Genet, 11, 489-495.

379. Heberer G. (1940). Die Chromosomenverhaltnisse des Menschen. In: Just G (ed.), Handbuch der Erbbiologie des Menschen, Vol. I, pp. 2-30, Springer, Berlin.

380. Heitz E. (1928). Das Heterochromatin der Mouse. I. Pringsheims Jb wiss Botanik, 69, 762-818.

381. Hindley J. (1983). DNA sequencinG. In: Work T. S., Burden R. H. (eds.), Laboratory techniques in biochemistry and molecular biology, Elsevier, Amsterdam, New York, Oxford.

382. Hoo J. J., Forster C., Kindermann L., Zabel В., Hansen S. (1974). Supernumerary small ring chromosome, Human Genet, 25, 17-28.

383. Hooft C., Coetsier H., Oyre E. (1968). Syndrome de Turner et inversion pericentrique probable du chromosome 2, 45, X, 2. (p+, qt), Ann. Genet. 11, 181 183.

384. Hsu T. C. (1952). Mammalian chromosomes in vitro. I. The karyotype of man, J. Hered., 43, 167.

385. Hsu T. S. (1975). A possible function of constitutive heterochromatin: The bodyguard hypothesis, Genetics (Suppl.), 79, 137-150.

386. Hsu T. C., Pomerat C. M. (1953). Mammalian chromosomes in vitro. II. A method for spreading the chromosomes of cells in tissue culture, J. Hered., 44, 23-29.

387. Hulten M., Lindsten J. (1973). Cytogenetic aspects of human male meiosis, Adv. Hum. Genet, 4, 327-387.

388. Humphries S. E., Whittall R., Minty A., Buckingham M., Williamson R. (1981). There are approximately 20 actin genes in the human genome, Nucleic Acid Res., 9, 4895-4908.

389. Iselius L., Lindsten J., Aurias A., Fraccaro M., and many other authors (1983). The llq; 22q translocation: A collaborative study of 20 new cases and analysis of 110 families, Hum. Genet., 64, 343-355.

390. Itakura K. (1985). Antisense RNA sequences, First Intern. Symp. on the Role of Recombinant DNA in Genetics (R. L. Teplitz et al, eds.), Crete (In the Press, 1986).

390a. Jacobs P. A. (1977). Human chromosome heteromorphism (variants), Progress in Med. Genet. .NS, Vol. II, 251-274.

391. Jacob F., Brenner A., Cuzin F. (1963). On the regulation of DNA replication, Cold Spring Harbor Symp. Quant. Biol., 28, 329-348.

392. Jacobs P. A. (1977). Human chromosome heteromorphism (variants), Progr. in Med. Genet (New series), 2, 251-274.

393. Jacobs P. A., Baikie A. G., MacGregor T. N., Harnden D. G. (1959). Evidence for the existence of the human "superfemale", Lancet, II, 423-425.

394. Jacobs P. A., Brunton M., Melville M. M., Brittain R. P., McClermont W. F. (1965). Aggressive behavior, mental subnormality and the XYY male, Nature, 208, 1351-1352.

395. Jacobs P. A., Strong J. A. (1959). A case of human intersexuality having a possible XXY sexdetermining mechanism, Nature, 182, 302-303.

396. Jacobsen P., Mikkelsen M., RosleffF. (1974). The trisomy 8 syndrome: Report of two further casses, Ann. Genet (Paris), 17, 87-94.

397. Jalbert P., Sele B. (1979). Factors predisposing to adjacent-2 and 3: I disjunctions: Study of 161 human reciprocal translocations, J. Med., Genet, 16, 467-478.

398. Jeffreys A. J., Wilson V., Thein S. L. (1985). Hypervariable "minisatellite" regions in human DNA, Nature, 314, 67-73.

399. Johannisson R., Gropp A., Winking H., Coerdt W., Rehder H., Schwinger E. (1983). Down's syndrome in the male. Reproductive pathology and meiotic studies, Hum. Genet, 63, 132-138.

400. Jones R. C., Potter S. S. (1985). LI sequences in HeLa extrachromosomal circular DNA: Evidence for circularization bu homologous recombination, Proc. Nat. Acad. Sci. USA, 82, 1989-1993.

401. Joseph J. L., Brasch J. M., Smyth D. R. (1982). Pattern of exchange induced by mitomycin С in C-bands of human chromosomes. II. High frequency of Y-Y exchange in XYY cells, Hum. Genet, 62, 246-348.

401a. Kaiser P. (1984). Pericentric inversions. Problems and significance for clinical genetics, Hum. Genet, 68, 1-47.

402. Kakati S., Nihill M., Sinah A. (1973). An attempt to establish trisomy 8 syndrome, Hum. Genet, 19, 293-300.

403. Khalili K., Solas C., Weinemann P. (1983). Isolation and characterization of human actin genes in phage Lambda vectors, Gene, 21, 9-17.

404. Kirsch-Volders M., Hens L., Susanne С. (1980). Telomere and centremere association tendencies in the human male metaphase complement, Hum. Genet., 54, 69-74.

405. Kjessler B. (1966). Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility cliniC., Monogr. Hum. Genet. 2 Karger, Basel.

406. Koske-Westphal Th., Passarge E. (1974). Die Chromosomen des Menschen und ihre Untersuchung in somatischen Zellen. In: Vogel. F. (ed.), Handbuch der allgemeinen Pathologie, Vol. IX, Erbgefuge, pp. 261-323, Springer, Berlin, Heidelberg, New York.

407. Koskull H., von, Aula P. (1974). Inherited (13, 14) translocation and reproduction, Hum. Genet, 24, 85-91.

408. Kunze J., Tolksdorf M., Wiedemann H.-R. (1975). Cat eye syndrome, Hum. Genet., 26, 271-289.

409. Kurilo L. F. (1981). Oogenesis in antenatal development in man, Hum. Genet, 57, 86-92.

410. Kurnit D. M. (1979). Satellite DNA and heterochromatin variants: The case for unequal mitotic crossing over, Hum. Genet., 47, 169-186.

411. Latt S. A. (1973). Microfluorometric detection of deoxyribonucleic acid replication in human metaphase chromosomes, Proc. Natl. Acad. Sci. USA, 70, 3395-3399.

412. Latt S. A., Schreck R. R., Laveday K. S., Dougherty С. Р., Schuller C. C. F. (1980). Sister chromatid exchanges, Adv. in Hum. Genet, 10, 267-331.

413. Lauritsen J. G. (1977). Genetic aspects of spontaneous abortion, University of Aarhus, Laegeforeninges.

414. Lauritsen J. G., Bolund L., Friedrich U., Therkelsen A.L. (1979). Origin of triploidy in spontaneous abortuses, Ann. Hum. Genet., 43, 1-6.

415. Lejeune J. (1968). De la duplication de structures circulaires, Ann. Genet. (Paris), 11, 71-77.

416. Lejeune J., Berger R. (1965). Sur deux observations familiales de translocations complexex, Ann. Genet (Paris), 8, 21-30.

417. Lejeune J., Gautier M., Turpin M. R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens, CR Acad. Sci. (Paris), 248, 1721-1722.

418. Lejeune J., Lafourcade J., Berger R., Vialatte J., Roeswillwald M., Seringe P., Turpin R. (1963). Trois cas de deletion partielle du bras court d'un chromosome 5, CR Acad. Sci. (Paris), 257, 3098-3102.

419. Leonard C., Hazael-Massieux P., Bocquet L., Larget-Piet L., Boue J. (1975). Inversion pericentrique inv. (2) (pllql3) dans les familes non apparenlees, Hum. Genet., 28, 121-128.

420. Lifschitz E., Lindsley D. L. (1972). The role of X-chromosome inactivation during spermatogenesis, Proc. Natl. Acal. Sci. USA, 69, 182-186.

421. Lilley D. M. J., Pardon J. F. (1979). Structure and function of chromatin, Ann. Rev. Genet., 13, 197-233.

422. Lubs H. A., Ruddle F. H. (1970). Applications of quantitative karyotypy to chromosome variantion in 4400 consecutive newborns. In: Jacobs P. A., Price W. H., L aw P. (eds.), Human population cytogenetics, pp. 120-142, Pfizer Medical Monographs 5, University of Edinburgh Press, Edinburgh.

423. Lyon M. F. (1971). Possible mechanisms of Y chromosome inactivation, Nature, New Biol., 232, 229.

424. Lyon M. H. (1968). Chromosomal and subchromosomal inactivation, Ann. Rev. Genet., 2, 31-52.

425. Lyon M. F. (1961). Gene action in the X-chromosome of the mouse, Nature, 190, 372-373.

426. Lyon M. F. (1961). Gene action in the X-chromosome of mammals including man, Proceedings 2nd International Conference of Human Genetics, Rome, August 1961, pp. 1228-1229.

427. Madan K. (1983). Balanced structural changes involving the human X: Effect on sexual phenotype, Hum. Genet., 63, 216-221.

428. Maddox J. (1984). Who will clone a chromosome? Nature, 312, 306.

429. Mager D. L., Henthorn P. S. (1984). Identification of a retroviruslike repetitive element in human DNA, Proc. Natl. Acad. Sci. UCA, 81, 7510-7514.

430. Martin G. M. (1978). The pathobiology of aging, University of Washington Medicine, 5, 3-10.

431. Martin R. H., Balkan W., Burns K., Lin С. С (1982). Direct chromosomal analysis of human spermatozoa, Amer. J. Hum. Genet, 34,459-468.

432. Martin R. H, Balkan W., Burns K., Rademaker A.W., LinC.C., RuddN.L. (1983). The chromosome constitution of 1000 human spermatozoa, Hum. Genet, 63, 305-309.

433. McClintock B. (1956). Controlling elements and the gene, Cold Spring Harbor Symp. Quant. Biol, 21, 197-144.

434. Merril С. R., Harrington M.G. (1985). The search for mitochondrial inheritance of human diseases, TIG, 1, 140-144.

435. Metz C. W. (1916). Chromosome studies on the diptera. II. The paired association of the chromosomes in the diptera and its significance, J. Exp. Zool, 21, 213.

436. Mikelsaar A.-V., Schmid M., Krone W., Schwarzacher H. G., Schnedl W. (1977). Frequency of Agstained nucleolus organizer regions in the acrocentric chromosomes of man, Hum. Genet, 31, 13-17.

437. Miklos G. L. G., John B. (1979). Heterochromatin and satellite DNA in man: properties and prospects, Amer. J. Hum. Genet, 31, 264-280.

439. Miller O. J. (1985). Dosage compensation in mammals: Why does a gene on the inactive X uield less product than one on the active X? Hum. Genet, 69, 97-101.

440. Miller O. L., Beatty B. R. (1969). Visualization of molecular genes, Science, 164, 955-957.

441. Miller O. L., Miller D. A., Warburton D. (1973). Application of the new staining techniques to the study of human chromosomes, ProG. Med. Genet, 9, 1-48.

442. Miller O. L., Schreck R. R., Beiser S. M., Erlanger B.F. (1973). Immunofluorescent studies of chromosome banding with antinucleotide antibodies. In: Nobel Symposium 23: Chromosome identification, pp. 43-48, Academic Press, New York, London.

443. Mikkelsen M. (1971). Down's syndrome. Current stage of cytogenetic research, Hum. Genet, 12, 1-28.

444. Mikkelsen M., Hansson A., Jacobsen P., Hobolth N. (1975). Tranclocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis, Hum. Genet, 27, 303-307.

445. Mikkelsen M., Stene J. (1970). Genetic counseling in Down's syndrome, Hum. Hered., 20, 457-464.

446. Milunsky A. (1973). The prenatal diagnosis of hereditary disorders, Thomas, Springfield.

447. Moorhead P. S., Nowell P. C., Mellman W. J., Battips D. M., HungerfordD.A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood, Exp. Cell Res., 20, 613-616.

448. Morgan Т. Н. (1910). Sexlimited inheritance in drosophila, Science, 32, 120-122.

449. Morton N. E., Jacobs P. A., Frackiewicz A. (1975). The effect of structural aberrations of the chromosomes on reproductive fitness in man. I. Metoodology, Clin. Genet, 8, 159-168.

450. Morton N. E., Lindsten J., Iselius L., Yee S. (1982). Data and theory for a revised chiasma map of man, Hum. Genet, 62, 266-270.

451. Moser H., Emery A. E. H. (1974). The manifesting carrier in Duchenne muscular dystrophy, Clin. Genet, 5, 271-284.

453. Muller H. J. (1941). Induced mutations in drosophila. In: Genes and chromosomes, structure and organization, Cold. SprinG. Harbor Symp. on Quant Biol, Vol. K, 151-167.

454. Mullinger A. M., Johnson R. T. (1980). Packing DNA into chromosomes, J. Cell Sci., 46, 61-86.

455. Nagakome Y., Iimura K., Tangiuchi K. (1973). Points of exchange in a human no. 5 ring chromosome, Cytogenet Cell Genet, 12, 35-39.

456. Natarajan А. Т., Zwanenburg T. S. B. (1982). Mechanismsfor chromosomal aberrations in mammalian cells, Mulation Research, 95, 1-6.

457. Nathans D. (1980). Restriction endonucleases, Simian Virus 40, and the new genetics, Science, 206, 903-909.

458. Niebuhr E. (1974). Triploidy in man, Hum. Genet, 21, 103-125.

459. Niebuhr E. (1972). Locatization of the deleted segment in the cri-du-caat syndrome, Hum. Genet, 16, 357-358.

460. Noel В., Quack В., Rethore M. O. (1976). Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations, Clin. Genet., 9, 593-602.

461. Nowakowski H., Lenz W., Parada J. (1958). Diskrepanz zwischen Chromatinbefund und chromosomalem Genschlecht beim Klinefelter-Syndrom. Klin. Wochenschr., 36, 683-684.

462. Nowakowski H., Lenz W, Parada J. (1959). Diskrepanz zwischen Chromatinbefund und genetischem Geschlecht beim Klinefelter-Syndrom, Acta Endocrinol., 30, 296-320.

463. Ohno S., Kaplan W. D., Kinosita R. (1959). Formation of the sex chromatin by a single X chromosome in liver cells of Rattus norvegicus, Exp. Cell Res, 18, 415-418.

464. Ohno S., Makino S. (1961). The single-X nature sex chromatin in man, Lancet, I, 78-79.

465. Oster J., Mikkelsen M., Nielsen A. (1964). The mortality and causes of death in patients with Down's syndrome (mongolism), International Copenhagen Congress of Scientific Study of Mental Retardation, 1, 231.

466. Pachmann U., Rigler R. (1972). Quantum yield of acridines interacting with DNA of defined basesequence, Exp. Cell Res, 72, 602.

467. Painter T. S. (1923). Studies in mammalian spermatogenesis. II. The spermatogenesis of man, J. Exp. Zool, 37, 291-321.

468. Paris Conference 1971: Standartization in human cytogenetics, Cytogenetics, 11, 313-362 (1972).

469. Passarge E. (1979). Emil Heitz and the concept of heterochromatin: Longitudinal chromosome differentiation was recognized fifty years ago, Am. J. Hum. Genet, 31, 106-115.

470. Passarge E., Fries E. (1973). X-chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia, Nature New Biology, 245, 58-59.

471. Patau K. (1960). The identification of individual chromosomes, especially in man, Am. J. Hum. Genet, 12, 250-276.

472. Patau K., Smith D. W., Therman E., Inhorn S. L., Wagner H. P. (1960). Multiple congenital anomaly caused by an extra chromosome, Lancet, I, 790-793.

473. Pawlowitzki I. H. (1972). Frequency of chromosome abnormalities in abortions, Hum. Genet. 16, 131-136.

474. Pearson P. L., Bobrow M., (1970). Fluorescent staining of the Y chromosome in meiotic stages of the human male, J. Reprod. Fertil, 22, 177-179.

475. Penrose L. S., Delhanty J.D.A. (1961). Triploid cell cultures from a macerated foetus, Lancet, I, 1261.

476. Pirastu M. (1985). The oligonucleotide technique for antenatal diagnosis of P-Thalassemia in Italy. In: Teplitz R. L. et al. (eds.) First Intern. Symp. on the Role of Recombinant DNA in Genetics Crete (In the press 1986).

477. Polani P. E. (1962). Sex chromosome abnormalies in man. In: Hamerton J. L. (ed.), Chromosomes in medicine, pp. 73-139, Heinemann, London.

478. Polani P. E., Bishop P. M. F., lennox В., Ferguson-Smith M. A., Stewart J. S. S., Plader A. (1958). Color vision studies in the X-chromosome constitution of patients with Klinefelter's syndrome, Nature, 182, 1092-1093.

479. Polani B. E., Briggs J. H., Ford С E., Clarke С. М., Berg J. M. (1960). A mongol child with 46 chromosomes, Lancet, I, 721-724.

480. Ouie P. G., White J. G., Holmes В., Good R. A. (1967). In vivo bactericidal capacity of human polymorphonuclear leucocytes: Diminished activity in chronic granulomatous disease of childhood, J. Clin. Invest, 46, 668-679.

481. Rao P. N., Johnson R. Т., Sperling К. (1982). Premature chromosome condensation, Application in basiC., clinical and mutation research, Academic Press, New York etc.

482. Rappold G. A., Vosberg H.-P. (1984). Chromosomal localization of a human myosin heavychain gene by in situ hybridization, Hum. Genet, 65, 195-197.

483. Richards B. W. (1969). Mosaic mongolism, J. Ment. Defic. Res, 13, 66-83.

484. Rigler R. (1966). Microfluoreometric characterization of intracellular nucleic acids and nucleoproteins by acridine orange, Acta Physiol. Scand, 67, [Suppl. 267], 1, 485, Rohme D, Heneen W. K. (1982). Banding patterns in prematurely condensed chromosomes and the underlying structure of the chromosomes, pp. 131-157, In: Rao P. N., Johnson R. T., Sperling K., (eds.), Premature chromosome condensation, Academic Press, New York etc.

486. Ropers H. H., Migl В., Zimmer J., Muller C. R. (1981a). Steroid sulfatase activity in cultured fibroblasts of XX males, Cytogenet. Cell Genet, 30, 168-173.

487. Ropers H. H., Migl В., Zimmer J., Fraccaro M., Maraschio P.P., Westerfeld A. (1981b). Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations, Hum. Genet, 57, 345-356.

488. Ropers H. H., Wienker T. F., Grimm Т., Schroetter K., Bender K. (1977). Evidence for preferential X-chromosome inactivation in a family with Fabry disease, Am. J. Hum. Gen, 29, 361-370.

4$Sa.Rouyer F., Simmler M. C., Johnsson C., Vergnaud G., Cooke H.J., Weissenbach J. (1986). A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes, Nature, 319, 291-295.

489. Rudok E., Jacobs P. A., Yanaginachi R. (1978). Direct analysis of the chromosome constitution of human spermatozoa, Nature, 274, 911-913.

490. Ruzicka F. (1973). Uber die Ultrastruktur menschlicher Metaphase-Chromosomen, Hum. Genet, 17, 137-144.

491. Sachs L. (1953/54). Sexlinkage and the sex chromosome in man, Ann. Hum. Genet, 18, 255-261.

492. Southern E. M. (1975). Detection of specific sequences among DNA fragments separated by gel electrophoresis, J. Mol. Biol, 98, 503-517.

493. Setlow J. K., Hollaender A. (1979). Genetic engineering: Principles and methods, Vol. 1, Plenum Press, New York.

494. Shmookler Reis R. J., Lumpkin С. К., McGill J. R, Riabowol К. Т., Goldstein S. (1983). Extrachromosomal circular copies of an "inter-Alu" unstable sequence in human DNA are amplified during in vitro and in vivo ageing, Nature, 301, 394-398.

495. Smith D. W., Patau K., Therman E., lnhorn S. L. (1960). A new autosomal trisomy syndrome: Multiple congenital anomalies caused by an extra chromosome, J. Pediatr., 57, 338-345.

496. Smith H. O. (1979). Nucleotide sequence specificity of restriction endonucleases, Science, 205, 455-462.

497. Solari A. J. (1980). Synaptonemal complexes and associated structures in microspread spermatocytes, Chromosome, 81, 315-337.

498. Sperling K. (1984). Frequency and origin of chromosome abnormalities in man. In: Obe B. (ed.), Mutation in man, pp. 128-146, Spinger, Berlin, Heidelberg, New York.

449. Sperling K. (1984). Genetische Sektion-Anatomie der menschlichen Gene. In: (Passarge E., ed.), pp. 73-100, Verlag Chemie, Darmstadt.

500. Sperling K., Rao P. N. (1974). The phenomenon of premature chromosome condensation: Its relevance to basic and applied research, Humangenetik, 23, 235-258.

501. Summitt R. L., Martens P. R., Wilroy R. S. (1973). X-autosome translocation in normal mother and effectively 21-monosomic daughter, J. Pediatr., 84, 539-546.

501a. Schaefer M. S. D. (1983). Segregation and Pathologie autosomaler familiarer Translokationen bein Menschen, Diss. Univ. Kaiserslautern.

502. Schemp W., Meer B. (1983). Cytologic evidence for three human X-chromosomal segments escaping inactivation, Hum. Genet., 63, 171-174.

503. Schinzel A. (1979). Autosomale Chromosomenaberrationen, Archiv. fur Genetik, 52, 1-204.

504. Schleiermacher E., Schliebitz U., Steffens C. (1974). Brother and sister with trisomy 10р: А new syndrome, Hum. Genet., 23, 163-172.

505. Schmid С. W., Jelinek W. R. (1982). The Alu family of dispersed repititive sequences, Science, 216, 1065-1070.

506. Schmidt E. R. (1985). Sequenzen von DNA. In: Blin N, Trendelenburg M. F., Schmidt E. R. (eds.), Molekular- und Zellbiologie, pp. 35 51, Springer Verlag, Berlin, Heidelberg, New York.

507. Schmidtke J., Cooper D. N. (1983). A list of cloned DNA sequences, Hum. Genet., 65, 19-26.

508. Schmidtke J., Cooper D. N. (1984). A list of cloned human DNA sequences - Supplement, Hum. Genet, 67, 111-114.

509. Schmidtke J., Epplen J. T. (1980). Sequence organization of animal nuclear DNA, Hum. Genet., 55, 1-18.

510. Schnedl W. (1971). Banding pattern of human chromosomes, Nature, 233, 93.

511. Schnedl W. (1978). Structure and variability of human chromosomes analysed by recent techniques, Hum. Genet., 41, 1-10.

512. Schnedl W. (1974). Banding patterns in human chromosomes visualized by Giemsa staining after various pretreatments. In: Schwarzacher H. G, Wolf U. (eds.), Methods in human cytogenetics, pp. 95-116, Springer, New York, Heidelberg, Berlin.

513. Schneider E. L., Epstein C. J. (1972). Replication rate and life span of cultured fibroblasts in Down's syndrome, Proc. Soc. Exp. Biol. Med., 141, 1092-1094.

514. Schneiderman L. J., Smith C. A. B. (1962). Nonrandom distribution of certain homologous pairs of normal human chromosomes in metaphase, Nature, 195, 1229-1230.

515. Schroeder T. M., Anschutz F., Knopp A. (1964). Spontane Chromosomenaberrationen bie familiarer Panmyelopathie, Hum. Genet., 1, 194-196.

516. Schwarzacher H. G. (1974). Fluorescence microscopy of chromosomes and interphase nuclei. In: Schwarzacher H. G., Wolf U. (eds.), Methods in human cytogenetics, pp. 83-93, Springer, New York, Heidelberg, Berlin.

517. Schwarzacher H. G. (1970). Die Ergebnisse elektronenmikroskopischer Untersuchungen an somatischen Chromosomen des Menschen, Hum. Genet., 10, 195-208.

518. Schwarzacher H. G., Wachtler F. (1983). Nucleolus organizer regions and nucleoli, Hum. Genet., 63, 89-99.

519. Simpson J. L., (1976). Disorders of sexual differentiation, Etioloqy and clinical delineation, Academic Press, New York.

520. Star linger P. (1980). IS elements and transposons, Plasmid, 3, 241-259.

521. Stern C. (1936). Somatic crossingover and segregation in Drosophila melanogaster, Genetics, 21, 625-730.

522. Stern C. (1959). The chromosomes of man, J. Med. EduC., 34, 301-314.

523. Strayer D., Heintz N., Roeder R., Gillespie D. (1983). Three organisations of human DNA, Proc. Nat. Acad. Sci. USA, 80, 4770-4774.

524. Taylor A. L. (1963). Bacteriophageinduced mutation in Escherichia coli, Proc. Natl. Acad. Sci. USA, 50, 1043-1051.

525. Taylor J. H. (I960). Asynchronous duplication of chromosomes in cultured cells of Chinese hamster, J. Biophys. Biochem. CytoloG., 7, 455-464.

526. Taylor K. M., Wolfinger H. L., Brown M. G., Chadwick D. L. (1975). Origin of a small metacentric chromosome. Familial and cytogenetic evidence, Clin. Genet., 8, 364-369.

527. Teplitz R. L. (1985). The use of synthetic oligonucleotides in and prenatal diagnosis of genetic disease. In; Teplitz R. L. et al. (eds.), First Intern. Symp. on the Role of Recombinant DNA in Genetics, Crete (In the press, 1986).

528. Therman E., Meyer-Kuhn E. (1981). Mitotic crossingover and segregation in man, Hum. Genet., 59, 93-100.

529. Therman E., Patau K. (1974). Abnormal X chromosomes in man. Origin behavior and effects, Hum. Genet., 25, 1-16.

530. Therman E., Sarto G. E., Palmer C. G., Kallio H., Denniston С (1979). Position of the human X inactivation center on Xp., Hum. Genet., 50, 59-64.

531. Tode J. J., Knopf J. L., Wozney J.M., Sutzman L. A., Bueker J. L., Pittman D. D., Kaufman R. J., Brown E., Shoemaker Ch., Orr E. C., Amphlett G. W., Foster W. B., Сое M. L., Knutson G. J., Fass D. N. Hewick R. M. (1984). Molecular cloning of a cDNA encoding human antihaemophilic factor, Nature, 312, 342-347.

532. Tjio H. J., Levan A. (1956). The chromosome numbers of man, Hereditas, 42, 1-6.

533. Tjio H. J., Puck Т. Т. (1958). The somatic chromosomes of man, Proc. Natl. Acad. Sci. USA, 44, 1229-1237.

535. Trendelenburg M. F. (1983). Progress in visualization of eukaryotic gene transcription, Hum. Genet., 63, 197-215.

536. Vehar G. A., Keyt В., Eaton D., Rodriguez H, O'Brian D. P., Rotblat F., Oppermann H., Keck R., Wood W. I., Harkins R.N., Tuddenham E. G. D., Lawn R. M., Capon D.J. (1984). Structure of human factor VIII, Nature, 312, 337-342.

537. Waardenburg P. J. (1932). Das menschliche Auge und seine Erbanlagen, Bibliogr. Genet., 7.

538. Wachtel S. (ed.), Errors of sex determination (Proc. of the Kroc. Foundation Conf.), Hum. Genet., 58, 1-127.

539. Wallace R. B. (1985). The use of synthetic DNA hybridization probes as tools for genetic analysis. In: Teplitz R. L. et al. (eds.), First Intern. Symp. on the Role of Recombinant DNA in Genetics, Crete (In the press, 1986).

540. Weisblum В., de Haseth P. L. (1972). Quinacrine, a chromosome stain specific for deoxyadenilate-de-oxy-thymidinate-rich regions of DNA, Proc. Natl. Acad. Sci. USA, 69, 629.

541. Wilson G. N. Lynne Szura L., Rushford C., Jackson D., Erickson J. (1982). Structure and variation of human ribosomal DNA: The external transcribed spacer and adjacent regions, Am. J. Hum. Genet, 34, 32-49.

542. Windhorst D. В., Holmes В., Good R. A. (1967). A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females, Lancet, I, 737-739.

543. Winiwarter H. von (1912). Etudes sur la sper-matogenese humaine. I. Cellule de Sertoli. II. Heterochromosome et mitoses de L'epitheli-um seminal, Arch. Biol. (Liege), 27, 91-189.

544. Wolf U., Reinwein H., Porsch R., Schroter R., Baitsch H. (1965). Defizienz an den kurzen Armen eines Chromosoms Nr. 4, Hum. Genet., 1, 397-413.

545. Wolff E. de, Scharer K., Lejeune J. (1962). Contribution a l'etude des jumeaux mongoliens. Un cas monozygotisme heterocaryote, Nelv. Paediatr. Acta, 17, 301-328.

546. Wood W. I., Capon D. J., Simonsen C. C., Eaton D. L., Gitschier J., Keyt В., Seeburg P. H., Smith D. H., Hollingshead P., Wion K. L., Delwart E., Tuddenham E. G. D., Vehar G. A., Lawn R.M. (1984). Expression of active human factor VIII from recombinant DNA clones, Nature, 312, 330-337.

547. Wollenberg C., Kiefaber M. P., Zang K. D. (1982). Quantitative studies on the arrangement of human metaphase chromosomes VIII. Localization of homologous chromosomes, Hum. Genet, 60, 239-248.

548. Wyman A. R., White R. (1980). A highly polymorphic locus in human DNA, Proc. Natl. Acad. Sci. USA, 77, 6754-6758.

549. Yuncken C. (1968). Meiosis in the human female, Cytogenetics, 7, 234-238.

550. Yunis J. J. (1981). Midprophase human chromosomes. The attainment of 2000 bands, Hum. Genet, 56, 293-298.

551. Zankl H., Zang K. D. (1979). Quantitative studies on the arrange ment of human metaphase chromosomes. VII. The association pattern of acrocentric chromosomes in carriers of Robertsonian translocations and in their relatives with normal karyotypes, Hum. Genet, 52, 119-125.

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