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New Strategy for Prenatal Diagnosis of X-Linked Disorders

✍ Scribed by Costa, Jean-Marc; Benachi, Alexandra; Gautier, Evelyne


Book ID
124165473
Publisher
Massachusetts Medical Society
Year
2002
Tongue
English
Weight
225 KB
Volume
346
Category
Article
ISSN
0096-6762

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πŸ“œ SIMILAR VOLUMES


PRENATAL DIAGNOSIS OF X-LINKED MYOTUBULA
✍ LING-JIA HU; JOCELYN LAPORTE; WOLFRAM KRESS; NIKLAS DAHL πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 834 KB

X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to

Prenatal diagnosis in 3,000 women for ch
✍ Daniel, Art ;Stewart, Lesley ;Saville, Toni ;Brookwell, Ross ;Paull, Helen ;Purv πŸ“‚ Article πŸ“… 1982 πŸ› John Wiley and Sons 🌐 English βš– 863 KB

## Abstract In 3,000 women referred for prenatal diagnosis, 110 (3.7%) abnormal fetuses were detected and 85 therapeutic terminations were performed. There were five main reasons for referral. Among the 2,227 women referred because of maternal age 35 years and older, there were 51 (2.3%) who had an

Prenatal diagnosis of x-linked hydroceph
✍ Olivier Brocard; Christiane Ragage; Mireille Vibert; Thierry Cassier; StΓ©phane K πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 384 KB

Since the description of X-linked hydrocephalus by Bickers and Adams in 1949,' genetic counseling concerning this disease has benefited from the addition of prenatal ultrasound examinations, and more recently from the progress made in genetic engineering.2 We are reporting on a case in which sonogra

Prenatal diagnosis of X-linked ichthyosi
✍ R. HΓ€hnel; E. HΓ€hnel; S.J. Wysocki; S.P. Wilkinson; A. Hockey πŸ“‚ Article πŸ“… 1982 πŸ› Elsevier Science 🌐 English βš– 624 KB