✦ LIBER ✦

Prenatal diagnosis of friedreich ataxia

✍ Scribed by Wallis, J. ;Shaw, J. ;Wilkes, D. ;Farrall, M. ;Williamson, R. ;Chamberlain, S. ;Skare, J. C. ;Milunsky, A.

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 289 KB
Volume: 34
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320340327

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of Friedreich ataxia

✍ Massimo Pandolfo; Laura Montermini 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB 👁 2 views

Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse ´e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese

Molecular prenatal diagnosis of ataxia t

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

✍ L. Chessa; M. Piane; S. Prudente; C. Carducci; M. C. Mazzilli; A. Pachtì; M. Neg 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 2 views

Ataxia telangiectasia (AT) is a severe autosomal recessive disease, rare but not infrequent in Italy. Owing to the seriousness of the disease, prenatal diagnosis has been attempted in the past by means of cytogenetic, biochemical, radio-biological and indirect molecular analyses. We performed the fi

Accuracy of clinical diagnostic criteria

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

✍ A. Filla; G. De Michele; G. Coppola; A. Federico; G. Vita; A. Toscano; A. Uncini 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Prenatal diagnosis of cyclopia

✍ Elejalde, B. Rafael ;de Elejalde, Maria Mercedes ;Hamilton, Phillip R. ;Christen 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB 👁 2 views

Identification of a missense mutation in

Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

✍ Bartolo, Claire; Mendell, Jerry R.; Prior, Thomas W. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA expansion on one allele and a point mutation on the o

Clinical and genetic study of Friedreich

Clinical and genetic study of Friedreich ataxia in an Australian population

✍ Delatycki, Martin B.; Paris, Damien B.B.P.; Gardner, R.J. McKinlay; Nicholson, G 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta