𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

✍ Scribed by Descheemaeker, M.J. ;Roelandts, K. ;De Raedt, T. ;Brems, H. ;Fryns, J.P. ;Legius, E.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
44 KB
Volume
131A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


NF1 microdeletions in neurofibromatosis
✍ Eric Pasmant; Audrey Sabbagh; Gill Spurlock; Ingrid Laurendeau; Elisa Grillo; Ma πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 197 KB

In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal

Mosaic type-1 NF1 microdeletions as a ca
✍ Ludwine Messiaen; Julia Vogt; Kathrin Bengesser; Chuanhua Fu; Fady Mikhail; Edua πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 203 KB

Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosa

Two independent mutations in a family wi
✍ Klose, Anja; Peters, Hartmut; Hoffmeyer, Sven; Buske, Annegret; LοΏ½der, Andrea; H πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 2 views

We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T

RecurrentNF1 gene mutation in a patient
✍ Buske, Annegret; Gewies, Andreas; Lehmann, RοΏ½diger; RοΏ½ther, Klaus; Algermissen, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin