Results 201 to 210 of about 30,899,280 (234)
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The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17
Human Genetics, 1990We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH.
S M, Pulst +5 more
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Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma
Cancer Genetics and Cytogenetics, 1997The neurofibromatosis type 1 (von Recklinghausen, NF1) gene has been proposed as a suppressor gene in tumors associated with neurofibromatosis. Recent publications have indicated that the NF1 gene can be rearranged in neuroblastoma cell lines. We analyzed DNA from a neuroblastoma patient with NF1 inherited as a familial trait on the paternal side ...
T, Martinsson +3 more
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Regulation of Ras-GAP and the Neurofibromatosis-1 Gene Product by Eicosanoids
Science, 1991Ras-GAP (GTPase activating protein) is a regulatory protein that stimulates the intrinsic guanosine triphosphatase (GTPase) activity of the proto-oncogene product p21 ras . A domain of the neurofibromatosis gene product (NF1) that has sequence similarity to the catalytic domain of Ras-GAP
J W, Han, F, McCormick, I G, Macara
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Genetics of neurofibromatosis 1 and the NF1 gene.
Journal of child neurology, 2003Neurofibromatosis 1 serves as a paradigm for understanding the principles of human genetics. The concepts of gene mutation, penetrance of the condition, variable clinical expressivity, mosaicism, age-dependent expression of clinical manifestations, and pleiotropy are evident in this autosomal dominant condition.
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[From gene to disease; neurofibromatosis type 1].
Nederlands tijdschrift voor geneeskunde, 2001Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families.
A, de Goede-Bolder +4 more
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Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis
International Journal of Molecular Sciences, 2021Ryota Tamura
exaly
Management of neurofibromatosis type 1-associated plexiform neurofibromas
Neuro-Oncology, 2022Kaleb Yohay +2 more
exaly
Histogenesis control genes and neurofibromatosis 1
European Journal of Pediatrics, 2000openaire +1 more source
Author's Reply: Wilms' Tumor and Neurofibromatosis
Ca-A Cancer Journal for Clinicians, 1982G J D'Angio
exaly