✦ LIBER ✦

Neurofibromatosis 1

✍ Scribed by Viskochil, Dave

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 25 KB
Volume: 89
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990326)89:1<v::aid-ajmg2>3.0.co;2-i

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Epidemiology of neurofibromatosis type 1

✍ Friedman, J.M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB

The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some

Neurofibromatosis type 1 growth charts

✍ Clementi, M.; Milani, S.; Mammi, I.; Boni, S.; Monciotti, C.; Tenconi, R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients co

Intracranial gliomas in neurofibromatosi

Intracranial gliomas in neurofibromatosis type 1

✍ Listernick, Robert; Charrow, Joel; Gutmann, David H. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB

Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1). Before the past 15 years, studies of optic pathway gliomas in NF1 were hampered by the inaccurate diagnosis of NF1, the unavailability of noninvasive neuroimaging te

Neurofibromatosis-Noonan syndrome

✍ Carey, John C. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 4 KB 👁 1 views

Thoracic tumors in children with neurofi

Thoracic tumors in children with neurofibromatosis-1

✍ Schorry, E.K.; Crawford, A.H.; Egelhoff, J.C.; Lovell, A.M.; Saal, H.M. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 1 views

Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical records and imaging studies for a group of 260 pediatric patients with NF1 followed in a

Two independent mutations in a family wi

Two independent mutations in a family with neurofibromatosis type 1 (NF1)

✍ Klose, Anja; Peters, Hartmut; Hoffmeyer, Sven; Buske, Annegret; L�der, Andrea; H 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB

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