| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyay. Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review. BMC medical genomics. vol 17. issue 1. 2024-03-06. PMID:38448973. |
this "type-1" deletion is associated with a severe clinical phenotype in nf1 patients, with several phenotypic manifestations including learning disability, a much earlier development of cutaneous neurofibromas, an increased tumour risk, and cardiovascular malformations. |
2024-03-06 |
2024-03-09 |
Not clear |
| Sunetra Mondal, Neha Agrawal, Subhankar Chowdhur. Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications. Journal of the ASEAN Federation of Endocrine Societies. vol 38. issue 1. 2023-05-30. PMID:37252421. |
co-occurrence of nf1 and ts is extremely rare, ts and nf1 can both affect growth and puberty, cause different cutaneous and skeletal deformities, hypertension, vasculopathy and learning disabilities. |
2023-05-30 |
2023-08-14 |
Not clear |
| Alessandra Santos, Mauro Geller, Spyros Mezitis, Allan E Rubenstein, Lisa Oliveira, Daniel Jm Medeiros Lima, Mendel Suchmacher Neto, Rafael Nigri, Karin Gonçalves Soares Cunha, Sanyu Takirambudde, Marcia Gonçalves Ribeir. Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group. Clinical pathology (Thousand Oaks, Ventura County, Calif.). vol 13. 2022-02-14. PMID:35156025. |
the most prevalent features of nf1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. |
2022-02-14 |
2023-08-13 |
Not clear |
| Ugo Sorrentino, Silvia Bellonzi, Chiara Mozzato, Valeria Brasson, Irene Toldo, Raffaele Parrozzani, Maurizio Clementi, Matteo Cassina, Eva Trevisso. Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients. Cancers. vol 13. issue 24. 2021-12-24. PMID:34944956. |
nf1 patients with seizures exhibit a higher incidence of intellectual disability and/or developmental delay, as well as of isolated learning disabilities. |
2021-12-24 |
2023-08-13 |
Not clear |
| Yuying Wang, Joel M Brittain, Sarah M Wilson, Cynthia M Hingtgen, Rajesh Khann. ALTERED CALCIUM CURRENTS AND AXONAL GROWTH IN Nf1 HAPLOINSUFFICIENT MICE. Translational neuroscience. vol 1. issue 2. 2021-10-20. PMID:21949590. |
mutations of the neurofibromin gene (nf1) cause neurofibromatosis type 1 (nf1), a disease in which learning disabilities are common. |
2021-10-20 |
2023-08-12 |
mouse |
| Marie-Laure Beaussart, Sébastien Barbarot, Claire Mauger, Arnaud Ro. Systematic Review and Meta-analysis of Executive Functions in Preschool and School-Age Children With Neurofibromatosis Type 1. Journal of the International Neuropsychological Society : JINS. vol 24. issue 9. 2020-03-30. PMID:30375317. |
neurofibromatosis type 1 (nf1) is a genetic disorder in which the most frequent complication in children is learning disabilities. |
2020-03-30 |
2023-08-13 |
human |
| Eva Mennigen, Peter Schuette, Ariana Vajdi, Laura Pacheco, Tena Rosser, Carrie E Bearde. Reduced higher dimensional temporal dynamism in neurofibromatosis type 1. NeuroImage. Clinical. vol 22. 2020-01-15. PMID:30710873. |
in addition to physical manifestations such as characteristic pigmentary changes, nerve sheath tumors, and skeletal abnormalities, nf1 is also associated with increased rates of learning disabilities, attention deficit hyperactivity disorder, and autism spectrum disorder. |
2020-01-15 |
2023-08-13 |
human |
| Robert J Allaway, Sara J C Gosline, Salvatore La Rosa, Pamela Knight, Annette Bakker, Justin Guinney, Lu Q L. Cutaneous neurofibromas in the genomics era: current understanding and open questions. British journal of cancer. vol 118. issue 12. 2019-07-16. PMID:29695767. |
symptoms of nf1 can include learning disabilities, bone abnormalities and predisposition to tumours such as cnfs, plexiform neurofibromas, malignant peripheral nerve sheath tumours and optic nerve tumours. |
2019-07-16 |
2023-08-13 |
Not clear |
| Yves Chaix, Valérie Lauwers-Cancès, Nathalie Faure-Marie, Catherine Gentil, Sandrine Lelong, Elisabeth Schweitzer, Diana Rodriguez, Stéphanie Iannuzzi, Isabelle Kemlin, Nathalie Dorison, François Rivier, Maryline Carniero, Elodie Preclaire, Sébastien Barbarot, Laurence Lion-François, Pierre Castelna. Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. vol 24. issue 4. 2019-04-17. PMID:28393676. |
learning disabilities are one of the most frequent complications of neurofibromatosis type 1 (nf1) in children. |
2019-04-17 |
2023-08-13 |
human |
| Vanessa L Merker, Sarah McDannold, Eric Riklin, Mojtaba Talaei-Khoei, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vrancean. Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT. Journal of neuro-oncology. vol 136. issue 2. 2019-02-06. PMID:29119424. |
patients with nf1, those with lower education and those with learning disabilities had lower scores on health litt; in multivariate analysis, learning disability and education remained significant predictors of healthlitt scores. |
2019-02-06 |
2023-08-13 |
Not clear |
| J J Garcia-Pena. [Learning disorders in neurofibromatosis type 1]. Revista de neurologia. vol 64. issue s01. 2018-03-26. PMID:28256688. |
studies in animal models suggest that the learning disabilities associated with nf1 are caused by excessive ras activity that leads to increased gamma-aminobutyric acid (gaba) inhibition and to decreased long-term potentiation. |
2018-03-26 |
2023-08-13 |
Not clear |
| Mojtaba Talaei-Khoei, Eric Riklin, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vrancean. First use of patient reported outcomes measurement information system (PROMIS) measures in adults with neurofibromatosis. Journal of neuro-oncology. vol 131. issue 2. 2017-12-13. PMID:27900643. |
there were no differences in promis scores by disease type (nf1, nf2 and schwannomatosis), or self reported learning disabilities, or compared with the us population. |
2017-12-13 |
2023-08-13 |
cat |
| Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkov. The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation. General physiology and biophysics. vol 36. issue 2. 2017-06-19. PMID:28150585. |
autosomal dominant disorder legius syndrome (nf1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (nf1), such as calms, freckling, macrocephaly and learning disability. |
2017-06-19 |
2023-08-13 |
Not clear |
| Steffie N Tomson, Matthew J Schreiner, Manjari Narayan, Tena Rosser, Nicole Enrique, Alcino J Silva, Genevera I Allen, Susan Y Bookheimer, Carrie E Bearde. Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1. Human brain mapping. vol 36. issue 11. 2016-08-09. PMID:26304096. |
individuals with nf1 have an increased incidence of learning disabilities, attention deficits, and autism spectrum disorders. |
2016-08-09 |
2023-08-13 |
mouse |
| Gilberto Silva, Maria J Ribeiro, Gabriel N Costa, Inês Violante, Fabiana Ramos, Jorge Saraiva, Miguel Castelo-Branc. Peripheral Attentional Targets under Covert Attention Lead to Paradoxically Enhanced Alpha Desynchronization in Neurofibromatosis Type 1. PloS one. vol 11. issue 2. 2016-08-01. PMID:26881921. |
neurofibromatosis type-1 (nf1) is a neurodevelopmental disease often exhibiting attentional deficits and learning disabilities, and is considered to model similar impairments common in other neurodevelopmental disorders such as autism. |
2016-08-01 |
2023-08-13 |
human |
| Carrie E Bearden, Gerhard S Hellemann, Tena Rosser, Caroline Montojo, Rachel Jonas, Nicole Enrique, Laura Pacheco, Shaun A Hussain, Joyce Y Wu, Jennifer S Ho, James J McGough, Catherine A Sugar, Alcino J Silv. A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I. Annals of clinical and translational neurology. vol 3. issue 4. 2016-04-15. PMID:27081657. |
lovastatin has been shown to reverse learning deficits in a mouse model of neurofibromatosis type 1 (nf1), a common monogenic disorder caused by a mutation in the ras-mapk pathway and associated with learning disabilities. |
2016-04-15 |
2023-08-13 |
mouse |
| b' Laurence Lion-Fran\\xc3\\xa7ois, Fran\\xc3\\xa7ois Gueyffier, Catherine Mercier, Daniel G\\xc3\\xa9rard, Vania Herbillon, Isabelle Kemlin, Diana Rodriguez, Tiphanie Ginhoux, Emeline Peyric, Virginie Coutinho, Valentine Br\\xc3\\xa9ant, Vincent des Portes, St\\xc3\\xa9phane Pinson, Patrick Combemale, Behrouz Kassa\\xc3\\xa. The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial. Orphanet journal of rare diseases. vol 9. 2015-07-20. PMID:25205361.' |
we hypothesised that learning disabilities in nf1 children were related to adhd symptoms. |
2015-07-20 |
2023-08-13 |
Not clear |
| Hildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, Fady Mikhail, Chuanhua Fu, Morten Hillmer, Martha E Walker, Howard M Saal, Yves Lacassie, David N Cooper, Ludwine Messiae. Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. Human mutation. vol 35. issue 12. 2015-07-08. PMID:25205021. |
both index patients with nf1 duplications exhibited learning disabilities and atypical cals. |
2015-07-08 |
2023-08-13 |
Not clear |
| Marc A Wolman, Eric D de Groh, Sean M McBride, Thomas A Jongens, Michael Granato, Jonathan A Epstei. Modulation of cAMP and ras signaling pathways improves distinct behavioral deficits in a zebrafish model of neurofibromatosis type 1. Cell reports. vol 8. issue 5. 2015-05-28. PMID:25176649. |
neurofibromatosis type 1 (nf1) is a common autosomal-dominant disorder associated with attention deficits and learning disabilities. |
2015-05-28 |
2023-08-13 |
zebrafish |
| E Pasmant, B Gilbert-Dussardier, A Petit, B de Laval, A Luscan, A Gruber, H Lapillonne, C Deswarte, P Goussard, I Laurendeau, B Uzan, F Pflumio, F Brizard, P Vabres, I Naguibvena, S Fasola, F Millot, F Porteu, D Vidaud, J Landman-Parker, P Ballerin. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. Oncogene. vol 34. issue 5. 2015-04-10. PMID:24469042. |
constitutional dominant loss-of-function mutations in the spred1 gene cause a rare phenotype referred as neurofibromatosis type 1 (nf1)-like syndrome or legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. |
2015-04-10 |
2023-08-12 |
Not clear |