| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rui M Costa, Alcino J Silv. Mouse models of neurofibromatosis type I: bridging the GAP. Trends in molecular medicine. vol 9. issue 1. 2003-07-11. PMID:12524206. |
neurofibromatosis type i (nf1) is an autosomal dominant disorder caused by mutations in the nf1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities. |
2003-07-11 |
2023-08-12 |
mouse |
| Tena L Rosser, Roger J Packe. Neurocognitive dysfunction in children with neurofibromatosis type 1. Current neurology and neuroscience reports. vol 3. issue 2. 2003-04-28. PMID:12583841. |
a broad range of both nonverbal and verbal learning disabilities are evident in approximately 30% to 65% of children with nf1. |
2003-04-28 |
2023-08-12 |
Not clear |
| Raymond S Kand. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurologic clinics. vol 20. issue 4. 2003-04-03. PMID:12616676. |
in children, brain symptoms cause most of the morbidity in tsc, and nerve sheath and nervous system tumors as well as learning disabilities cause major morbidity in nf1. |
2003-04-03 |
2023-08-12 |
Not clear |
| Rui M Costa, Alcino J Silv. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. Journal of child neurology. vol 17. issue 8. 2003-03-19. PMID:12403561. |
mutations in the nf1 gene cause abnormalities in cell growth and differentiation and lead to a variety of learning disabilities. |
2003-03-19 |
2023-08-12 |
mouse |
| Timothy M Lynch, David H Gutman. Neurofibromatosis 1. Neurologic clinics. vol 20. issue 3. 2003-01-07. PMID:12432832. |
individuals with nf1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and mpnsts), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. |
2003-01-07 |
2023-08-12 |
Not clear |
| Y Zhu, M I Romero, P Ghosh, Z Ye, P Charnay, E J Rushing, J D Marth, L F Parad. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes & development. vol 15. issue 7. 2001-05-17. PMID:11297510. |
in addition, approximately one-half of nf1 patients exhibit learning disabilities. |
2001-05-17 |
2023-08-12 |
mouse |
| R M Costa, T Yang, D P Huynh, S M Pulst, D H Viskochil, A J Silva, C I Branna. Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nature genetics. vol 27. issue 4. 2001-04-26. PMID:11279521. |
our findings have implications for the development of a treatment for the learning disabilities associated with nf1 and indicate that the gap domain of nf1 modulates learning and memory. |
2001-04-26 |
2023-08-12 |
mouse |
| J Szudek, P Birch, V M Riccardi, D G Evans, J M Friedma. Associations of clinical features in neurofibromatosis 1 (NF1). Genetic epidemiology. vol 19. issue 4. 2001-02-01. PMID:11108651. |
we also found associations between the occurrence of lisch nodules, macrocephaly, short stature, and learning disability or mental retardation as individual features in parents and children with nf1. |
2001-02-01 |
2023-08-12 |
Not clear |
| D H Gutmann, Y Zhang, A Hirb. Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Annals of neurology. vol 46. issue 5. 1999-11-24. PMID:10553997. |
the identification of this novel protein isoform with restricted neuronal expression suggests novel functions for neurofibromin in the postmitotic brain that are perhaps relevant to the learning disabilities observed in children with nf1. |
1999-11-24 |
2023-08-12 |
Not clear |
| S Ozonof. Cognitive impairment in neurofibromatosis type 1. American journal of medical genetics. vol 89. issue 1. 1999-10-18. PMID:10469436. |
neurofibromatosis type 1 (nf1) is associated with a broad range of relatively nonspecific cognitive impairments, including low iq, learning disabilities, and behavioral difficulties. |
1999-10-18 |
2023-08-12 |
Not clear |
| S Ozonof. Cognitive impairment in neurofibromatosis type 1. American journal of medical genetics. vol 89. issue 1. 1999-10-18. PMID:10469436. |
while early studies indicated that the cognitive phenotype of nf1 resembles that of nonverbal learning disabilities (nld), later research has found that the impairments are broader and do not fit the nld profile well. |
1999-10-18 |
2023-08-12 |
Not clear |
| M Upadhyaya, M Ruggieri, J Maynard, M Osborn, C Hartog, S Mudd, M Penttinen, I Cordeiro, M Ponder, B A Ponder, M Krawczak, D N Coope. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human genetics. vol 102. issue 5. 1998-07-16. PMID:9654211. |
gross deletions of the neurofibromatosis type 1 (nf1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. |
1998-07-16 |
2023-08-12 |
human |
| J H Tonsgard, K K Yelavarthi, S Cushner, M P Short, V Lindgre. Do NF1 gene deletions result in a characteristic phenotype? American journal of medical genetics. vol 73. issue 1. 1998-01-23. PMID:9375928. |
however, deletions which remove all of nf1 have been reported in a small number of patients who have minor facial abnormalities, mental retardation, learning disabilities, and early or excessive burden of cutaneous or plexiform neurofibromas. |
1998-01-23 |
2023-08-12 |
Not clear |
| A J Silva, P W Frankland, Z Marowitz, E Friedman, G S Laszlo, D Cioffi, T Jacks, R Bourtchuladze, G Lazl. A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nature genetics. vol 15. issue 3. 1997-04-04. PMID:9054942. |
importantly, learning disabilities occur in 30% to 45% of patients with nf1, even in the absence of any apparent neural pathology. |
1997-04-04 |
2023-08-12 |
mouse |
| S M Said, T L Yeh, R S Greenwood, J K Whitt, L A Tupler, K R Krishna. MRI morphometric analysis and neuropsychological function in patients with neurofibromatosis. Neuroreport. vol 7. issue 12. 1997-02-28. PMID:8905698. |
our findings also suggest a basis for refined understanding of learning disabilities, which are a prominent feature of nf1. |
1997-02-28 |
2023-08-12 |
Not clear |
| R T Geist, D H Gutman. Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene. Neuroscience letters. vol 211. issue 2. 1997-01-23. PMID:8830850. |
neurofibromatosis 1 (nf1) is a common autosomal dominant disorder in which affected individuals develop benign and malignant tumors as well as non-tumor-related abnormalities, such as seizures and learning disabilities. |
1997-01-23 |
2023-08-12 |
Not clear |
| C V Dilts, J C Carey, J C Kircher, R O Hoffman, D Creel, K Ward, E Clark, C O Leonar. Children and adolescents with neurofibromatosis 1: a behavioral phenotype. Journal of developmental and behavioral pediatrics : JDBP. vol 17. issue 4. 1997-01-17. PMID:8856518. |
learning disabilities were common in children with nf1. |
1997-01-17 |
2023-08-12 |
human |
| K North, P Joy, D Yuille, N Cocks, P Hutchin. Cognitive function and academic performance in children with neurofibromatosis type 1. Developmental medicine and child neurology. vol 37. issue 5. 1995-07-06. PMID:7768342. |
the authors evaluated 51 consecutive children with nf1 (aged eight to 16 years) to determine the frequency of intelectual impairment and learning disability due to nf1 alone, the profile of learning disabilities and the effect of clinical variables. |
1995-07-06 |
2023-08-12 |
Not clear |
| E Legius, M J Descheemaeker, J P Fryns, H Van den Bergh. Neurofibromatosis type 1. Genetic counseling (Geneva, Switzerland). vol 5. issue 3. 1995-02-09. PMID:7811422. |
in the clinical part attention is given to the frequent observation of learning disabilities in nf1 children. |
1995-02-09 |
2023-08-12 |
Not clear |
| L M Kayes, W Burke, V M Riccardi, R Bennett, P Ehrlich, A Rubenstein, K Stephen. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. American journal of human genetics. vol 54. issue 3. 1994-03-25. PMID:8116612. |
to investigate the contribution to variability by genes either contiguous to or contained within the nf1 gene, we screened six nf1 patients with mild facial dysmorphology, mental retardation, and/or learning disabilities, for dna rearrangement of the nf1 region. |
1994-03-25 |
2023-08-12 |
Not clear |