𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Comparison of different techniques for detecting 17p12 duplication in CMT1A

✍ Scribed by Alessandra Patitucci; Maria Muglia; Angela Magariello; Anna Lia Gabriele; Giuseppina Peluso; Teresa Sprovieri; Francesca Luisa Conforti; Rosalucia Mazzei; Carmine Ungaro; Francesca Condino; Paola Valentino; Franco Bono; Carmelo Rodolico; Anna Mazzeo; Antonio Toscano; Giuseppe Vita; Aldo Quattrone

Book ID
116792327
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
95 KB
Volume
15
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Facilitated diagnosis of CMT1A duplicati
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging
✍ Tohru Ikegami; Hiroyuki Ikeda; Phillip F. Chance; Hidenori Kiyosawa; Masahiko Ya πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 125 KB πŸ‘ 2 views

Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover mediated by the CMT1A-REP repeat is a proposed me

Charcot-Marie-Tooth disease 1A (CMT1A) a
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2β†’12
✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 340 KB

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond