𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mental retardation–epilepsy syndrome linked to Xp21.1–p11.4

✍ Scribed by Peter Hedera; David Alvarado; Ahmad Beydoun; John K. Fink


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
109 KB
Volume
51
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Increasing evidence for a new X-linked m
✍ Bruy�re, H.; Lewis, M.E.S.; Wood, S.; MacLeod, P.; Langlois, S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

We read with interest the article, published recently in this journal by Ronce et al. [1999] describing three generations of a French family segregating with a syndromal form of X-linked mental retardation (XLMR) characterized by hypotonia, intractable seizures, and severe mental deficiency. We wish

Regional localization of an X-linked men
✍ Schutz, Christopher K.; Ives, Elizabeth J.; Chalifoux, Maryse; MacLaren, Linda; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 694 KB

A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS1226 distally and DXS1238 proximally, defining an in

X-linked mental retardation with neonata
✍ Raynaud, Martine; Gendrot, Chantal; Dessay, Benoit; Moncla, Anne; Ayrault, Anne- 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 860 KB

Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores

X-linked mental retardation associated w
✍ Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at =0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval