✦ LIBER ✦

Linkage analysis of neurofibromatosis type 1

✍ Scribed by Maurizio Clementi; Alessandra Murgia; Franca Anglani; Romano Tenconi; Licia Turolla; Luigi Picci; Franco Zacchello

Publisher: Springer
Year: 1991
Tongue: English
Weight: 324 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf01213101

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of neurofibromatosis

Molecular analysis of neurofibromatosis type 1 mutations

✍ Xu Weiming; Qi Yu; Liu Lizhi; Margaret Ponder; Margaret Wallace; Xu Gangfeng; Br 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 377 KB

## Communicated by Robert Williamson We have examined a panel of 115 unrelated N F l individuals for mutation in the 3' region of the N F l gene, using Southern blotting and polymerase chain reaction amplification of exons followed by singlestrand conformation polymorphism (SSCP) analysis. We foun

Neurofibromatosis Type 1

✍ North, Kathryn 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 1 views

Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 4000. Cognitive deficits and academic learning difficulties are the most common neurological 'complication' of NF1 in childhood and can be responsible for significant lifetime morbidity

Epidemiology of neurofibromatosis type 1

✍ Friedman, J.M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

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 I (NFI) in Israel

Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool

✍ Elyakim, Segal ;Lerer, Israela ;Zlotogora, Joel ;Sagi, Michal ;Gelman-Kohan, Zul 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 746 KB

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 👁 1 views

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

Neurofibromatosis type 1 and pregnancy

✍ Dugoff, Lorraine; Sujansky, Eva 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 445 KB 👁 1 views

Neurofibromatosis '&pe 1 (NF-1) is an autosomal dominant condition which has markedly variable clinical expression, with manifestations ranging from mild cutaneous lesions to severe orthopedic complications and functional impairment. The current obstetrical literature indicates that women with NF-1