Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Frans J. Los"'
Publikováno v:
Human Reproduction Update, 10(1), 79-94. Oxford University Press
Assisted reproduction and preimplantation genetic diagnosis (PGD) involve various complicated techniques, each of them with its own problems. However, the greatest problem with PGD for chromosome abnormalities is not of a technical nature but is a bi
Autor:
Martinus F. Niermeijer, N. S. Den Hollander, Marja W. Wessels, Frans J. Los, J. W. Wladimiroff
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 19:570-574
OBJECTIVES: To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies. DESIGN: A prospective study in a tertiary center of 101 consecutive fetuses at risk of congenital anomalies at 11-14 weeks of gesta
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 17:502-505
Objective To evaluate the association between chromosomal abnormalities and fetal cerebellar size. Design A retrospective cross-sectional study. Methods Ultrasound measurements of transcerebellar diameter, head and upper-abdominal circumference from
Publikováno v:
Prenatal Diagnosis, 21, 75-80. John Wiley & Sons Ltd.
Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6-year period (1993-1998) we used FISH for quick follow-up inves
Publikováno v:
Fetal Diagnosis & Therapy, 16, 129-132. Karger
Objective: Investigation of the normal frequency of tetraploid metaphases in semidirect (STC) and cultured (LTC) chorionic villi. Methods: Fifty metaphases in STC- and in LTC-villi slides of 100 women of advanced maternal age were screened for tetrap
Publikováno v:
Prenatal Diagnosis, 21(12), 1075-8. John Wiley and Sons Ltd
Prenatal Diagnosis, 21, 1075-1078. John Wiley & Sons Ltd.
van Haelst, M M, Van Opstal, D, Lindhout, D & Los, F J 2001, ' Management of prenatally detected trisomy 8 mosaicism ', Prenatal Diagnosis, vol. 21, no. 12, pp. 1075-8 . https://doi.org/10.1002/pd.215
Prenatal Diagnosis, 21, 1075-1078. John Wiley & Sons Ltd.
van Haelst, M M, Van Opstal, D, Lindhout, D & Los, F J 2001, ' Management of prenatally detected trisomy 8 mosaicism ', Prenatal Diagnosis, vol. 21, no. 12, pp. 1075-8 . https://doi.org/10.1002/pd.215
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1). Follow-up laboratory investigations showed confined placental
In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Autor:
Wim J. Kleijer, Martinus F. Niermeijer, Ernst M. Schoonderwaldt, J. W. Wladimiroff, Frans J. Los, N. S. Den Hollander
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 16:87-90
Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharid
Autor:
J. W. Wladimiroff, Martinus F. Niermeijer, N. T. C. Ursem, Frans J. Los, N. S. Den Hollander, Marja W. Wessels
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 15:282-287
Objective The aim of this study was to analyze fetuses with prenatally diagnosed microcephaly including the nature of associated anomalies and the genetic-diagnostic implications. Design Retrospective study design. Methods A total of 30 fetuses with
Autor:
Paul Mollevanger, Diane Van Opstal, Helen Brandenburg, Katinka Teunissen, J Lind, Margot M. Bartelings, Marjolein Baaij, Liesbeth van Ieperen, Frans J. Los, Geoffrey C. Beverstock
Publikováno v:
Cancer Genetics & Cytogenetics, 115, 11-18. Elsevier Inc.
The occurrence of nasopharyngeal teratomas (NPT) is an infrequent event and prenatal detection of such tumors is even rarer. We present a case report and review of the literature (N = 78 cases), in which we describe the cytogenetic, DNA, and patholog
Publikováno v:
American Journal of Medical Genetics, 86, 151-155. Wiley-Liss Inc.
We report on the prenatal detection and further genetic studies in a case of trisomy 18 caused by isochromosome 18p [i(18p)] and 18q [i(18q)] formation. The diagnosis was made by standard cytogenetic techniques in amniotic fluid cells and confirmed b