𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and cytogenetic studies of the Prader-Willi syndrome: Evidence of phenotype-karyotype correlation

✍ Scribed by N. Niikawa; S. Ishikiriyama

Publisher
Springer
Year
1985
Tongue
English
Weight
507 KB
Volume
69
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

The neonatal phenotype of Prader–Willi s
The neonatal phenotype of Prader–Willi syndrome
✍ Eve Γ•iglane-Shlik; Riina Ε½ordania; Heili Varendi; Anne Antson; Marja-Liis MΓ€gi; πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 137 KB πŸ‘ 3 views
Genotype-phenotype correlation in a seri
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
✍ Gabriele Gillessen-Kaesbach; Wendy Robinson; Dietmar Lohmann; Sabine Kaya-Wester πŸ“‚ Article πŸ“… 1995 πŸ› Springer 🌐 English βš– 571 KB

A total of 167 patients with Prader-Willi syndrome (PWS) was studied at the clinical and molecular level. Diagnosis was confirmed by the PW71 methylation test. Quantitative Southern blot hybridizations with a probe for the small nuclear ribonucleoprotein N were performed to distinguish between patie

Deletion of small nuclear ribonucleoprot
Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: Two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q
✍ Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 7 KB πŸ‘ 2 views

The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de