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NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas

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NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. / Kluwe, Lan; Friedrich, Reinhard E; Korf, Bruce; Fahsold, Raimund; Mautner, Victor-F.

in: HUM MUTAT, Jahrgang 19, Nr. 3, 01.03.2002, S. 309.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kluwe, L, Friedrich, RE, Korf, B, Fahsold, R & Mautner, V-F 2002, 'NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas', HUM MUTAT, Jg. 19, Nr. 3, S. 309. https://doi.org/10.1002/humu.9018

APA

Kluwe, L., Friedrich, R. E., Korf, B., Fahsold, R., & Mautner, V-F. (2002). NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. HUM MUTAT, 19(3), 309. https://doi.org/10.1002/humu.9018

Vancouver

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner V-F. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. HUM MUTAT. 2002 Mär 1;19(3):309. https://doi.org/10.1002/humu.9018

Bibtex

@article{bfdae323ff72420f9bddb773621b8c21,
title = "NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas",
abstract = "Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. In 33 out of the 41 (80%) unrelated patients NF1 mutations were found, 24 are novel while the other 9 have been described in previous studies. The 33 mutations included 23 nonsense and frameshift, six splice and four missense mutations. The tumors in these patients had various sizes and features/growth characteristics. No correlation was found between the type or location of the NF1 mutations and size, location or feature of the PNFs, suggesting that many types of NF1 mutations can lead to development of PNFs.",
keywords = "Adolescent, Adult, Child, Child, Preschool, Facial Neoplasms, Female, Genes, Neurofibromatosis 1, Head and Neck Neoplasms, Humans, Male, Middle Aged, Neurofibroma, Plexiform, Neurofibromatosis 1, Spinal Neoplasms",
author = "Lan Kluwe and Friedrich, {Reinhard E} and Bruce Korf and Raimund Fahsold and Victor-F Mautner",
note = "Copyright 2002 Wiley-Liss, Inc.",
year = "2002",
month = mar,
day = "1",
doi = "10.1002/humu.9018",
language = "English",
volume = "19",
pages = "309",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "3",

}

RIS

TY - JOUR

T1 - NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas

AU - Kluwe, Lan

AU - Friedrich, Reinhard E

AU - Korf, Bruce

AU - Fahsold, Raimund

AU - Mautner, Victor-F

N1 - Copyright 2002 Wiley-Liss, Inc.

PY - 2002/3/1

Y1 - 2002/3/1

N2 - Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. In 33 out of the 41 (80%) unrelated patients NF1 mutations were found, 24 are novel while the other 9 have been described in previous studies. The 33 mutations included 23 nonsense and frameshift, six splice and four missense mutations. The tumors in these patients had various sizes and features/growth characteristics. No correlation was found between the type or location of the NF1 mutations and size, location or feature of the PNFs, suggesting that many types of NF1 mutations can lead to development of PNFs.

AB - Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. In 33 out of the 41 (80%) unrelated patients NF1 mutations were found, 24 are novel while the other 9 have been described in previous studies. The 33 mutations included 23 nonsense and frameshift, six splice and four missense mutations. The tumors in these patients had various sizes and features/growth characteristics. No correlation was found between the type or location of the NF1 mutations and size, location or feature of the PNFs, suggesting that many types of NF1 mutations can lead to development of PNFs.

KW - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Facial Neoplasms

KW - Female

KW - Genes, Neurofibromatosis 1

KW - Head and Neck Neoplasms

KW - Humans

KW - Male

KW - Middle Aged

KW - Neurofibroma, Plexiform

KW - Neurofibromatosis 1

KW - Spinal Neoplasms

U2 - 10.1002/humu.9018

DO - 10.1002/humu.9018

M3 - SCORING: Journal article

C2 - 11857752

VL - 19

SP - 309

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 3

ER -