✦ LIBER ✦

Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1

✍ Scribed by Ko, Jung Min; Sohn, Young Bae; Jeong, Seon Yong; Kim, Hyon-Ju; Messiaen, Ludwine M.

Book ID: 123272644
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 183 KB
Volume: 48
Category: Article
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2013.02.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of the NF1 gene mutation

Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1

✍ Yong Hwa Jo, Hye Ok Kim, Hae-Ryong Song, Kyung-Sik Yoon 📂 Article 📅 2013 🏛 The Genetics Society of Korea 🌐 English ⚖ 276 KB

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

RecurrentNF1 gene mutation in a patient

RecurrentNF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)

✍ Buske, Annegret; Gewies, Andreas; Lehmann, R�diger; R�ther, Klaus; Algermissen, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 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

Analysis of NF1 Gene Mutations in Neurof

Analysis of NF1 Gene Mutations in Neurofibromatosis Type 1 Patients in Japan

✍ N. Hatta; T. Horiuchi; S. Fujita 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 391 KB

A Clinical Variant of Neurofibromatosis

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

✍ Elisabet Ars; Helena Kruyer; Antonia Gaona; Pilar Casquero; Jordi Rosell; Víctor 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 310 KB

Neurofibromatosis eurofibromatosis type

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

✍ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 1 views

In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,