Early fetal anomaly scanning in a population at increased risk of abnormalities

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e65fe970d7054aad0773912f8a842080
https://doi.org/10.1046/j.1469-0705.2002.00649.x

Early prenatal sonographic diagnosis and follow-up of Jeune syndrome

Autor: J. W. Wladimiroff, N. S. Den Hollander, Simon G. F. Robben, A. J. M. Hoogeboom, Martinus F. Niermeijer

Publikováno v: Ultrasound in Obstetrics and Gynecology. 18:378-383

Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eece537fc40168dab17e48aefe5ffec9
https://doi.org/10.1046/j.0960-7692.2001.00530.x

Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8c53f3da30d164ae027a1f6da614c8fa
https://doi.org/10.1046/j.1469-0705.2000.00092.x

The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia

Autor: Maarten Witsenburg, John Hess, N. S. Den Hollander, J. W. Wladimiroff, Ingrid M.E. Frohn-Mulder, Patricia A. Stewart

Publikováno v: Prenatal Diagnosis. 15:1297-1302

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f89d253c894bf65fdc77f002db1c9791
https://doi.org/10.1002/pd.1970151309

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Autor: Stefan M. Willems, J.M. van de Kamp, Gert Matthijs, Ben J. H. M. Poorthuis, Dirk J. Lefeber, Ron A. Wevers, N S den Hollander, Sylke J. Steggerda, George J. G. Ruijter

Publikováno v: Journal of Medical Genetics, 44(4), 277-280. BMJ Publishing Group
Journal of Medical Genetics, 44, 4, pp. 277-80
Journal of medical genetics, 44(4), 277-280. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 44(4), 277-280. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 44, 277-80

Contains fulltext : 53596.pdf (Publisher’s version ) (Closed access) There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adcc804187c3f4f8192e0e872ed250d9
https://europepmc.org/articles/PMC2598051/