Results 141 to 150 of about 12,566 (189)

Neurofibromatosis type 1 (NF1) and Associated Tumors

Klinische Pädiatrie, 2014
Neurofibromatosis type 1 (NF1) is a frequent neurocutaneous syndrome that predisposes for various benign and malignant tumors. Most characteristic are neurofibromas which occur in almost all NF1 patients at some point in lifetime. Although neurofibromas are benign tumors they can be disfiguring and plexiform neurofibromas may progress to malignant ...
T, Rosenbaum, K, Wimmer
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Congenital Bone Malformations in Patients with Neurofibromatosis Type 1 (Nf1)

Journal of Pediatric Orthopaedics, 1999
To address the prevalence of congenital bone malformations in neurofibromatosis type 1 (Nf1; compared with Nf1 bone anomalies and tumors), we studied the Nf1 population of 135 children (70 boys, 65 girls) seen at the neurofibromatosis clinic, University of Catania, Italy, in the period 1990 through 1996. Twelve (8.8%) of the 135 children had congenital
RUGGIERI, MARTINO, PAVONE, VITO, De Luca D, Franzo A, Tine A, Pavone L.   +5 more
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[NF1 (neurofibromatosis type 1)].

Gan to kagaku ryoho. Cancer & chemotherapy, 1997
Several distinct Ras GTPase activating proteins (GAPs) from mammals, including Ras GAP of 120 kDa (GAP1) and NF1, stimulate the intrinsic GTPase activity of normal Ras, but not oncogenic Ras mutants (Trahey and McCormick, 1987). That is the reason why normal Ras remains predominantly in the inactive GDP-bound form (D-Ras), whereas oncogenic Ras remains
H, Maruta, , Nur-e-Kamal
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RecurrentNF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)

American Journal of Medical Genetics, 1999
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 during the splicing process and is predicted to result in a
A, Buske, A, Gewies, R, Lehmann, K, Rüther, B, Algermissen, P, Nürnberg, S, Tinschert   +6 more
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The management of neurofibromatosis type 1 (NF1) in children and adolescents

Expert Review of Neurotherapeutics
Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance ...
Nino Kerashvili, David H. Gutmann
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The value of screening tests in children with neurofibromatosis type 1 (NF1)

Child's Nervous System, 2020
Neurofibromatosis type 1 (NF1) is one of the most prevalent rare diseases. Whilst penetrance is complete by adulthood, its expressivity is extremely variable with potential multi-systemic complications. Although NF1 is diagnosed clinically, molecular analysis has a part to play in the screening of atypical forms and in genetic counselling.
Baudou, Eloïse, Chaix, Yves
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A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

Human Genetics, 1994
A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA.
S, Hoffmeyer, G, Assum, D, Kaufmann, K, Schwenk, W, Krone   +4 more
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Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene

Human Genetics, 1996
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is located on chromosome 17q. The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP).
M, Upadhyaya, M J, Osborn, J, Maynard, M R, Kim, F, Tamanoi, D N, Cooper   +5 more
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Knowledge and Self‐Esteem of Individuals with Neurofibromatosis Type 1 (NF1)

Journal of Genetic Counseling, 2016
AbstractNeurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café‐au‐lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1.
Kayla, Rosnau, S Shahrukh, Hashmi, Hope, Northrup, John, Slopis, Sarah, Noblin, Myla, Ashfaq   +5 more
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Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci

Cytogenetics and Cell Genetics, 2008
During the establishment of a YAC contig for the type 1 neurofibromatosis (NF1) region on human chromosome 17q11.2, several YAC clones were isolated which originated from a different chromosome but which retained strong homology to NFl coding regions (Marchuk et al., 1992). Fluorescence in situ hybridization (FISH) using these clones has identified NFl-
L M, Cummings, J M, Trent, D A, Marchuk
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