𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

✍ Scribed by Anderlid, Britt-Marie ;Schoumans, Jacqueline ;Annerén, Göran ;Sahlén, Sigrid ;Kyllerman, Mårten ;Vujic, Mihailo ;Hagberg, Bengt ;Blennow, Elisabeth ;Nordenskjöld, Magnus


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
562 KB
Volume
107
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Subtelomeric deletions detected in patie
✍ Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; Ber 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB

## Communicated by Ulf Landegren Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopa

Subtelomeric rearrangements in the menta
✍ Liesbeth Rooms; Edwin Reyniers; R. Frank Kooy 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB

In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients ne

Array-based MLPA to detect recurrent cop
✍ Liesbeth Rooms; Geert Vandeweyer; Edwin Reyniers; Kurt van Mol; Ilse de Canck; N 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 1 views

## Abstract Microdeletions, either subtelomeric or interstitial, are responsible for the mental handicap in approximately 10–20% of all patients. Currently, Multiplex Ligation‐dependent Probe Amplification (MLPA) is widely used to detect these small aberrations in a routine fashion. Although cost‐e