𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation

✍ Scribed by von Koskull, Harriet ;Gahmberg, Nina ;Salonen, Riitta ;Salo, Armi ;Peippo, Maarit


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
423 KB
Volume
51
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of fragile X syndrome
✍ Murphy, Patricia D. ;Wilmot, Patrick L. ;Shapiro, Lawrence R. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 366 KB πŸ‘ 2 views

## Abstract Since 1985, we have provided coordinated DNA‐based and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at h

PRENATAL DIAGNOSIS OF X-LINKED SPINAL AN
✍ CHRISTOS YAPIJAKIS; ELISABETH KAPAKI; MARINA BOUSSIOU; DIMITRIS VASSILOPOULOS; C πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 495 KB πŸ‘ 1 views

X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male