Works matching DE "GENETICS of neurofibromatosis"
Results: 46
A neurofibromatosis-1-regulated pathway is required for learning in Drosophila.
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- Nature, 2000, v. 403, n. 6772, p. 895, doi. 10.1038/35002593
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- Article
DNA diagnosis of neurofibromatosis 2.
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- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 19, p. 2316, doi. 10.1001/jama.1993.03510190072029
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- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Article
NEUROFIBROMATOSIS TYPE I - CLINICAL EVOLUTION AND PSYCHOSOCIAL IMPLICATIONS.
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- Analele Universitatii din Oradea, Fascicula Ecotoxicologie, Zootehnie si Tehnologii în Industria Alimentara, 2018, v. 17, n. Part B, p. 347
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- Article
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
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- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1519
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- Article
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.
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- Human Molecular Genetics, 2001, v. 10, n. 3, p. 271, doi. 10.1093/hmg/10.3.271
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- Article
Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.
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- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1059, doi. 10.1093/hmg/9.7.1059
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- Article
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
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- Human Molecular Genetics, 2000, v. 9, n. 2, p. 237, doi. 10.1093/hmg/9.2.237
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- Article
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
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- Human Molecular Genetics, 2000, v. 9, n. 1, p. 35, doi. 10.1093/hmg/9.1.35
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- Article
Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules.
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- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1561, doi. 10.1093/hmg/8.8.1561
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- Article
Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 267, doi. 10.1093/hmg/8.2.267
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- Article
Mosaicism in sporadic neurofibromatosis 2 patients.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2051
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- Article
NF2 gene in neurofibromatosis type 2 patients.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).
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- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1261, doi. 10.1093/hmg/7.8.1261
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- Article
Sporamin suppresses growth of human esophageal squamous cell carcinoma cells by inhibition of NF-κB via an AKT-independent pathway.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9620, doi. 10.3892/mmr.2017.7772
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- Article
Distinct Functional Domains of Neurofibromatosis Type 1 Regulate Immediate versus Long-Term Memory Formation.
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- Journal of Neuroscience, 2007, v. 27, n. 25, p. 6852, doi. 10.1523/JNEUROSCI.0933-07.2007
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- Article
SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia.
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- British Journal of Haematology, 2014, v. 164, n. 1, p. 156, doi. 10.1111/bjh.12595
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- Article
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.
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- Clinical Genetics, 2015, v. 87, n. 5, p. 401, doi. 10.1111/cge.12498
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- Article
Nörofibromatozis: 11 Olgunun Klinik Özelliklerinin İncelenmesi.
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- Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2013, v. 7, n. 4, p. 196, doi. 10.4274/tdd.1653
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- Article
Uncertainty Management and Communication Preferences Related to Genetic Relativism Among Families Affected by Down Syndrome, Marfan Syndrome, and Neurofibromatosis.
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- Health Communication, 2012, v. 27, n. 7, p. 663, doi. 10.1080/10410236.2011.629408
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- Article
Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice.
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- Behavior Genetics, 2013, v. 43, n. 1, p. 51, doi. 10.1007/s10519-012-9571-9
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- Article
Epidemiology and etiology of meningioma.
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- Journal of Neuro-Oncology, 2010, v. 99, n. 3, p. 307, doi. 10.1007/s11060-010-0386-3
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- Article
Calpain-dependent proteolysis of NF2 protein: Involvement in schwannomas and meningiomas.
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- Neuropathology, 2000, v. 20, n. 3, p. 153, doi. 10.1046/j.1440-1789.2000.00326.x
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- Article
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.
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- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1443, doi. 10.1007/s11011-018-0251-1
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- Article
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
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- Human Genetics, 2003, v. 112, n. 1, p. 12, doi. 10.1007/s00439-002-0840-1
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- Article
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
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- Human Genetics, 2001, v. 109, n. 5, p. 487, doi. 10.1007/s004390100594
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- Article
Imprints of "Scanxiety".
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- AMA Journal of Ethics, 2022, v. 24, n. 7, p. 685, doi. 10.1001/amajethics.2022.685
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- Article
Neurofibroma of the Recurrent Laryngeal Nerve in a Patient with Known Neurofibromatosis Type 1.
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- 2009
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- Case Study
Induction of Melanogenic Abnormalities in NF1 + /– Mutant Mice by DMBA.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 1133, doi. 10.1046/j.1523-1747.1999.00813.x
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- Article
Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice.
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- Cell & Tissue Research, 2000, v. 302, n. 3, p. 309, doi. 10.1007/s004410000290
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- Article
The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient.
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- 2023
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- Case Study
Intriguing bumps over palms and soles.
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- Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 245, doi. 10.4103/ijd.IJD_605_17
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- Article
Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I.
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- Journal of Pediatric Neurosciences, 2011, v. 6, n. 1, p. 65, doi. 10.4103/1817-1745.84413
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- Article
A particular GAP in mind.
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- Nature Genetics, 2001, v. 27, n. 4, p. 354, doi. 10.1038/86835
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Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.
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- Nature Genetics, 2001, v. 27, n. 4, p. 399, doi. 10.1038/86898
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- Article
Case of the Month.
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- JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 3, p. 76, doi. 10.1097/01720610-201003000-00016
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- Article
Effective neurofibromatosis therapeutics blocking the oncogenic kinase PAK1.
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- Drug Discoveries & Therapeutics, 2011, v. 5, n. 6, p. 266, doi. 10.5582/ddt.2011.v5.6.266
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Inherited disorders.
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- Practitioner, 2016, v. 260, n. 1790, p. 28
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- Article
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
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- Human Genetics, 2003, v. 113, n. 6, p. 551, doi. 10.1007/s00439-003-1009-2
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- Article
Neurofibromatosis Type I as a Model of Autosomal Dominant Inheritance.
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- Pediatric Dermatology, 2001, v. 18, n. 5, p. 445, doi. 10.1046/j.1525-1470.2001.01976.x
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- Article
Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma.
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- Genes to Cells, 2001, v. 6, n. 5, p. 441, doi. 10.1046/j.1365-2443.2001.00432.x
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- Article
Hyperactive interneurons impair learning in a neurofibromatosis model.
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- Nature Neuroscience, 2009, v. 12, n. 1, p. 8, doi. 10.1038/nn0109-8
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- Article
Steatocystoma multiplex — an uncommon lesion with special emphasis on cytological features and cyto-histological correlation.
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- 2012
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- Case Study
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.
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- 2023
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- Letter to the Editor
HRAS and the Costello syndrome.
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- Clinical Genetics, 2007, v. 71, n. 2, p. 101, doi. 10.1111/j.1399-0004.2007.00743.x
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- Article