ZIB

Hits per page

hits 1 - 2 | 2 hits

Sorting

Electronic Resource

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies (1988)

Romeo, G. ; Devoto, M. ; Archidiacono, N. ; [et al.]

Springer

European journal of pediatrics 147 (1988), S. 412-415

add to mindlist on the mindlist

Details

ISSN: 1432-1076

Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy ; Carrier diagnosis ; Prenatal diagnosis ; X-linked muscular dystrophies

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00496422

Permalink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

Electronic Resource

13C NMR study of tetrahydrothiazolo-[3,2-d][1,4]benzodiazepin-3[2H]-ones (1989)

Zappalá, M. ; Romeo, G. ; Grasso, S. ; [et al.]

Chichester : Wiley-Blackwell

Organic Magnetic Resonance 27 (1989), S. 702-705

add to mindlist on the mindlist

Details

ISSN: 0749-1581

Keywords: 13C NMR ; Tetra-hydrothiazolo [3,2-d] [1,4] benzodiazepin -3(2H)-ones ; Chemistry ; Analytical Chemistry and Spectroscopy

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Chemistry and Pharmacology

Notes: The complete assignments of the 13C NMR resonances for eight tetra-hydrothiazolo [3,2-d] [1,4] benzodiazepin -3(2H)-ones are reported. The data obtained account for a conformational rigidity of the heptatomic ring as a consequence of the annelation of the thiazolidinone nucleus.

Additional Material: 1 Ill.