✦ LIBER ✦

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

✍ Scribed by Rachel Wevrick; Uta Francke

Book ID: 118560156
Publisher: The Lancet
Year: 1996
Tongue: English
Weight: 222 KB
Volume: 348
Category: Article
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(96)04342-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Validation studies of SNRPN methylation

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

✍ Kubota, Takeo; Sutcliffe, James S.; Aradhya, Swaroop; Gillessen-Kaesbach, Gabrie 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 493 KB 👁 2 views

~~ ~~~~~~~~

Assessment of SNRPN expression as a mole

Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome

✍ CARREL, A; HUBER, S; ALLEN, D; VOELKERDING, K 📂 Article 📅 1999 🏛 Adis International Limited (now part of Wolters Kl 🌐 English ⚖ 978 KB

Small nuclear ribonucleoprotein polypept

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

✍ Özçelik, Tayfun; Leff, Stuart; Robinson, Wendy; Donlon, Tim; Lalande, Marc; Sanj 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 716 KB

Methylation-Sensitive High-Resolution Me

Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes

✍ White, H. E.; Hall, V. J.; Cross, N. C.P. 📂 Article 📅 2007 🏛 American Association for Clinical Chemistry 🌐 English ⚖ 348 KB

Evaluation of methylation analysis for d

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

✍ Tina Buchholz; Julianne Jackson; Lisa Robson; A. Smith 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 35 KB

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 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 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