260 Литература

461. Nowakowski H., Lenz W., Parada J. (1958). Diskrepanz zwischen Chromatinbefund und chromosomalem Genschlecht beim KlinefelterSyndrom. 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. OhnoS., 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. 0ster 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. Fachmann U., Rigler R. (1972). Quantum yield of acridities 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 ß-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 U.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. Е., Clarke С. М., BergJ.M. (1960). A mongol child with 46 chromosomes, Lancet, I, 721-724.

480. Ouie P.O., 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. RaoP.N., Johnson R. T., Sperling К. (1982). Premature chromosome condensation, Application in basic, clinical and mutation research, Academic Press, New York etc.

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

483. Richards B. W. (1969). Mosaic mongolism, J. Ment. Défie. 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, Röhme 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 B., Zimmer J., Muller С. R. (l 981 a). Steroid sulfatase activity in cultured fibroblasts of XX males, Cytogenet. Cell Genet, 30, 168-173.

487. Ropers H. H., Migl B., 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 T., Schroetter K., Bender K. (1977). Evidence for preferential X-chromosome inactivation in a family with Fabry disease, Am. J. Hum. Gen., 29, 361-370.

488a.Äo«yer F., Simmler M. С., Johnsson С., VergnatidG., 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. RudokE., Jacobs P.A., Yanaginachi R. (1978). Direct analysis of the chromosome constitution of human spermatozoa, Nature, 274, 911-913.

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

491. Sachs L. (1953/54). Sex-linkage 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 C.K., McGill J. R., Riabowol К. Т., Goldstein S. (1983). Extrachro-

Литература 261

mosomal 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., tnhorn 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., Wuroy R.S. (1973). X-autosome translocation in normal mother and effectively 21-monosomic daughter, J. Pediatr., 84, 539-546.

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

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

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

504. Schleiermacher E., Schliebitz U., Steffens C. (1974). Brother and sister with trisomy Юр: 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., Anschütz F., Knopp A. (1964). Spontane Chromosomenaberrationen bie familiärer 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., Wachtier 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. Starlinger P. (1980). IS elements and transposons, Plasmid, 3, 241-259.

521. Stern C. (1936). Somatic crossing-over 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. Sei. USA, 80, 4770-4774.

524. Taylor A. L. (1963). Bacteriophage-induced mutation in Eschericha coli, Proc. Natl. Acad. Sei. 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 £., Meyer-Kuhn E. (1981). Mitotic crossing-over 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., Dennis ton C. (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., Sutz-