𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PW71 methylation test for Prader-Willi and angelman syndromes

✍ Scribed by Dittrich, Bärbel ;Buiting, Karin ;Horsthemke, Bernhard


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
138 KB
Volume
61
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Methylation PCR analysis of Prader-Willi
✍ Muralidhar, Bethi; Butler, Merlin G. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

We report on a relatively large survey of Prader-Willi syndrome, Angelman syndrome, and control subjects with the newly described methylation polymerase chain reaction (PCR) method to determine its usefulness for molecular diagnosis. Sixty-one Prader-Willi syndrome (PWS) individuals (26 men and 35 w

Prader-Willi and Angelman syndromes: Sis
✍ Cassidy, Suzanne B. ;Dykens, Elisabeth ;Williams, Charles A. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB 👁 2 views

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologi

Prader-Willi and Angelman syndromes: Dia
✍ Kosaki, Kenjiro; McGinniss, Matthew J.; Veraksa, Alexey N.; McGinnis, William J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

The putative promoter region of the SNRPN gene contains a CpG island which is heavily methylated in the maternally derived allele and unmethylated in the paternally derived allele. In patients with Prader-Willi syndrome (PWS) only the methylated allele is present, while in those with Angelman syndro

DNA methylation analysis with respect to
✍ Christopher C. Glenn; Glenn Deng; Ron C. Michaelis; Jack Tarleton; Mary C. Phela 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views

The Angelman (AS) and Prader±Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagnosis of both syndromes can be made by a variety of

PRENATAL DIAGNOSIS OF PRADER–WILLI SYNDR
✍ HOWARD R. SLATER; CATHRYN VAUX; MARK PERTILE; TRENT BURGESS; VIDA PETROVIC 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 346 KB 👁 2 views

Chorionic villus sampling (CVS) was performed on a 38-year-old woman at 10 weeks' gestation for advanced maternal age. Two long-term cultures showed true mosaicism of cells with a normal karyotype and cells with trisomy 15. Follow-up amniocentesis showed only cells with a normal karyotype. Methylati