Группа авторов

Genetic Disorders and the Fetus


Скачать книгу

K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992; 51:55.

      530 530. Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Am J Hum Genet 1993; 52:854.

      531 531. Divane A, Carter NP, Spathas DH, et al. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five‐colour fluorescence in situ hybridization. Prenat Diagn 1994; 14:1061.

      532 532. Gersen SL, Carelli MP, Klinger KW, et al. Rapid prenatal diagnosis of 14 cases of triploidy using fish with multiple probes. Prenat Diagn 1995; 15:1.

      533 533. Evans MI, Henry GP, Miller WA, et al. International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome specific probes and fluorescent in‐situ hybridization are used. Hum Reprod 1999; 14:1213.

      534 534. Feldman B, Ebrahim SA, Hazan SL, et al. Routine prenatal diagnosis of aneuploidy by FISH studies in high‐risk pregnancies. Am J Med Genet 2000; 90:233.

      535 535. Oneda B, Baldinger R, Reissmann R, et al. High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenat Diagn 2014; 34:525.

      536 536. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013; 122:1374.

      537 537. Brady PD, Delle Chiaie B, Christenhusz G, et al. A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet Med 2014; 16:469.

      538 538. Donnenfeld AE, Lockwood D, Custer T, et al. Prenatal diagnosis from fetal urine in bladder outlet obstruction: success rates for traditional cytogenetic evaluation and interphase fluorescence in situ hybridization. Genet Med 2002; 4:444.

      539 539. Ville YG, Nicolaides KH, Campbell S. Prenatal diagnosis of fetal malformations by ultrasound. In: Milunsky A, ed. Genetic disorders and the fetus: diagnosis, prevention, and treatment. Baltimore, MD: The Johns Hopkins University Press, 2004: 836.

      540 540. Golden WL, Schneider BF, Gustashaw KM, et al. Prenatal diagnosis of Turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha‐fetoprotein. Prenat Diagn 1989; 9:683.

      541 541. Wax JR, Blakemore KJ, Soloski MJ, et al. Fetal ascitic fluid: a new source of lymphocytes for rapid chromosomal analysis. Obstet Gynecol 1992; 80:533.

      542 542. Costa D, Borrell A, Margarit E, et al. Rapid fetal karyotype from cystic hygroma and pleural effusions. Prenat Diagn 1995; 15:141.

      543 543. Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 2003; 7:1.

      544 544. van Dyke DL, Ebrahim SA, Al Saadi AA, et al. The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988–2003. Prenat Diagn 2007; 27:583.

      545 545. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 370:799.

      546 546. Grati FR, Malvestiti F, Ferreira JC, et al. Fetoplacental mosaicism: potential implications for false‐positive and false‐negative noninvasive prenatal screening results. Genet Med 2014; 16:620.

      547 547. Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2014.

      548 548. Holbrook KA, Odland GF. The fine structure of developing human epidermis: light, scanning, and transmission electron microscopy of the periderm. J Invest Dermatol 1975; 65:16.

      549 549. Holbrook KA, Odland GF. Regional development of the human epidermis in the first trimester embryo and the second trimester fetus (ages related to the timing of amniocentesis and fetal biopsy). J Invest Dermatol 1980; 74:161.

      550 550. Tyden O, Bergstrom S, Nilsson BA. Origin of amniotic fluid cells in mid‐trimester pregnancies. Br J Obstet Gynaecol 1981; 88:278.

      551 551. Gosden CM, Brock DJ. Morphology of rapidly adhering amniotic‐fluid cells as an aid to the diagnosis of neural tube defects. Lancet 1977; i:919.

      552 552. Huisjes HJ. Cytology of the amniotic fluid and its clinical applications. In: Fairweather DVI, Eskes TKAB, eds. Amniotic fluid research and clinical applications, 2nd edn. Amsterdam: Elsevier/North Holland, 1978:93.

      553 553. Bergström S. Ultrastructure of cell detachment from the human fetus in early pregnancy. Acta Obstet Gynecol Scand 1979; 58:353.

      554 554. Schrage R, Bogelspacher HR, Wurster KG. Amniotic fluid cells in the second trimester of pregnancy. Acta Cytol 1982; 26:407.

      555 555. Agorastos T, Bar T, Grussendorf EI, et al. Ultrastructural aspects of amniotic‐fluid cells: B. Vital cells. Z Geburtshilfe Perinatol 1982; 186:41.

      556 556. Hoehn H, Bryant EM, Karp LE, et al. Cultivated cells from diagnostic amniocentesis in second trimester pregnancies. I. Clonal morphology and growth potential. Pediatr Res 1974; 8:746.

      557 557. Felix JS, Doherty RA, Davis HT, et al. Amniotic fluid cell culture. I. Experimental design for evaluating cell culture variables: determination of optimal fetal calf serum concentration. Pediatr Res 1974; 8:870.

      558 558. Polgar K, Adany R, Abel G, et al. Characterization of rapidly adhering amniotic fluid cells by combined immunofluorescence and phagocytosis assays. Am J Hum Genet 1989; 45:786.

      559 559. Greenebaum E, Mansukhani MM, Heller DS, et al. Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid. Diagn Cytopathol 1997; 16:143.

      560 560. Medina‐Gomez P, McBride WH. Amniotic fluid macrophages fromnormal and malformed fetuses. Prenat Diagn 1986; 6:195.

      561 561. Roberts SH, Little E, Vaughan M, et al. Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid. Prenat Diagn 1993; 13:971.

      562 562. Gosden C, Brock DJ. Amniotic fluid cell morphology in early antenatal prediction of abortion and low birth weight. Br Med J 1978; 2:1186.

      563 563. Gosden CM. Amniotic fluid cell types and culture. Br Med Bull 1983; 39:348.

      564 564. Osborn M, Weber K. Tumor diagnosis by intermediate filament typing: a novel tool for surgical pathology. Lab Invest 1983; 48:372.

      565 565. Franke WW, Appelhans B, Schmid E, et al. Identification and characterization of epithelial cells in mammalian tissues by immunofluorescence microscopy using antibodies to prekeratin. Differentiation 1979; 15:7.

      566 566. Priest RE, Priest JH, Laundon CH, et al. Multinucleate cells incultures of human amniotic fluid form by fusion. Lab Invest 1980; 43:140.

      567 567. Medina‐Gomez P, Johnston TH. Cell morphology in long‐term cultures of normal and abnormal amniotic fluids. Hum Genet 1982; 60:310.

      568 568. Megaw JM, Priest JH, Priest RE, et al. Differentiation in human amniotic fluid cell cultures: II: Secretion of an epithelial basement membrane glycoprotein. J Med Genet 1977; 14:163.

      569 569. Priest RE, Priest JH, Moinuddin JF, et al. Differentiation in human amniotic fluid cell cultures: I: Collagen production. J Med Genet 1977; 14:157.

      570 570. Priest RE, Marimuthu KM, Priest JH. Origin of cells in human amniotic fluid cultures: ultrastructural features. Lab Invest 1978; 39:106.

      571 571. Priest RE, Priest JH, Moinuddin JF, et al. Differentiation in human amniotic fluid cell cultures: chorionic gonadotropin production. In Vitro 1979; 15:142.

      572 572. Thakar N, Priest RE, Priest JH. Estrogen production by cultured amniotic fluid cells. Clin Res 1982; 30:888A.

      573 573. O'Shannessy DJ, Priest RE, Priest JH. Metabolism of [4‐14C]androstenedione by cells cultured from human amniotic fluid. J Steroid