𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences

✍ Scribed by Mitchell, John; Schinzel, Albert; Langlois, Sylvie; Gillessen-Kaesbach, Gabriele; Schuffenhauer, Simone; Michaelis, Ron; Abeliovich, Dvorah; Lerer, Isabel; Christian, Susan; Guitart, Miriam; McFadden, Deborah E.; Robinson, Wendy P.

Book ID
102645748
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
509 KB
Volume
65
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Comparison of phenotype between patients
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
✍ Cassidy, S. B.; Forsythe, M.; Heeger, S.; Nicholls, R. D.; Schork, N.; Benn, P.; πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 241 KB πŸ‘ 2 views

Prader-Willi syndrome (PWS) is a complex multiple anomaly syndrome that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it is caused either by deletion of this region in the paternally inherited chromosome 15 or by maternal uniparental disomy (UP

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