𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Neurofibromatosis Type 1 || The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations

✍ Scribed by Upadhyaya, Meena; Cooper, David N.

Book ID
120359340
Publisher
Springer Berlin Heidelberg
Year
2012
Weight
173 KB
Category
Article
ISBN
3642328644

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletions spanning the neurofibromatosis
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
✍ Marjon H. Cnossen; Mieke N. van der Est; Martijn H. Breuning; Christi J. van Asp 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB 👁 1 views

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical

NF1 microdeletions in neurofibromatosis
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
✍ Eric Pasmant; Audrey Sabbagh; Gill Spurlock; Ingrid Laurendeau; Elisa Grillo; Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 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

Characterization of the somatic mutation
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
✍ Meena Upadhyaya; Song Han; Claudia Consoli; Elisa Majounie; Martin Horan; Nick S 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

## Communicated by Haig H. Kazazian One of the main features of neurofibromatosis type 1 (NF1) is benign neurofibromas, 10-20% of which become transformed into malignant peripheral nerve sheath tumors (MPNSTs). The molecular basis of NF1 tumorigenesis is, however, still unclear. Ninety-one tumors