Results 191 to 200 of about 34,178 (233)

The handwriting performance of children with NF1

Research in Developmental Disabilities, 2010
The objective of this study was to analyze the process and product of handwriting among children with Neurofibromatosis Type 1 (NF1) in comparison to those of Typically Developing (TD) children. Children with NF1 are at risk for some cognitive deficits, a wide range of deficits in perceptual skills and, motor and visual-motor integration skills which ...
Yafit, Gilboa, Naomi, Josman, Aviva, Fattal-Valevski, Hagit, Toledano-Alhadef, Sara, Rosenblum   +4 more
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Electrophysiological Changes in NF1

2000
Abstract : An important component of Schwann cell (SC) physiology, which has remained relatively unknown in NF1, is the electrophysiology of affected cells and the relationship of ion currents to development and maintenance of the NF1 SC phenotype. We are studying the relationship between a K channel current, functionally expressed in NF1 SC (Fieber ...
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Pheochromocytoma and NF1

2012
Pheochromocytoma and neurofibromatosis type 1 (NF1) are rarely observed in the same patient. However, pheochromocytoma represents a substantial manifestation of NF1 and occurs in about 3 % of affected individuals. In general, pheochromocytomas occur sporadically although they are a classic feature of numerous familial cancer syndromes ...
Birke Bausch, Hartmut P. H. Neumann
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The NF1 Translocation Breakpoint Region

Annals of the New York Academy of Sciences, 1991
The genetic locus that harbors mutation(s) responsible for neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2. We have mapped the human homologue of a murine gene (Evi-2) that is implicated in myeloid tumors, to a location between two NF1 translocation breakpoints on chromosome 17.
P, O'Connell, R M, Cawthon, D, Viskochil, R, White, J C, Carey, A M, Buchberg   +5 more
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NF1 Gene Structure and NF1 Genotype/Phenotype Correlations

2008
Neurofibromatosis type 1 (NF1, MIM 162200) is a complex disorder that affects many cell types and involves multiple body systems.
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Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells

PROTEOMICS, 2019
AbstractLoss of NF1 is an oncogenic driver. In efforts to define pathways responsible for the development of neurofibromas and other cancers, transcriptomic and proteomic changes are evaluated in a non‐malignant NF1 null cell line. NF1 null HEK293 cells were created using CRISPR/Cas9 technology and they are compared to parental cells that express ...
Rachel M, Carnes, James A, Mobley, David K, Crossman, Hui, Liu, Bruce R, Korf, Robert A, Kesterson, Deeann, Wallis   +6 more
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Immunohistochemical NF1 Analysis Does not Predict NF1 Gene Mutation Status in Pheochromocytoma

Endocrine Pathology, 2014
Pheochromocytomas (PCCs) are tumors originating from the adrenal medulla displaying a diverse genetic background. While most PCCs are sporadic, about 40 % of the tumors have been associated with constitutional mutations in one of at least 14 known susceptibility genes.
Adam, Stenman, Fredrika, Svahn, Jenny, Welander, Boel, Gustavson, Peter, Söderkvist, Oliver, Gimm, C Christofer, Juhlin   +6 more
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A History of von Recklinghausen's NF1

Journal of the History of the Neurosciences, 2010
While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact ...
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Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells

Biochemical and Biophysical Research Communications, 2006
Schwann cells derived from peripheral nerve sheath tumors from individuals with Neurofibromatosis Type 1 (NF1) are deficient for the protein neurofibromin, which contains a GAP-related domain (NF1-GRD). Neurofibromin-deficient Schwann cells have increased Ras activation, increased proliferation in response to certain growth stimuli, increased ...
Stacey L, Thomas, Gail D, Deadwyler, Jun, Tang, Evan B, Stubbs, David, Muir, Kelly K, Hiatt, D Wade, Clapp, George H, De Vries   +7 more
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Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma

American Journal of Medical Genetics Part A, 2002
AbstractNeurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. The mother had café‐au‐lait spots suggesting a familial NF1.
Paola, Origone, Raffaella, Defferrari, Katia, Mazzocco, Crocifissa, Lo Cunsolo, Bruno, De Bernardi, Gian Paolo, Tonini   +5 more
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