An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Published in American journal of human genetics (01.01.2007)
Published in American journal of human genetics (01.01.2007)
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S273: EVIDENCE OF NONINFERIORITY OF MITAPIVAT VERSUS SPLENECTOMY IN MURINE HEREDITARY SPHEROCYTOSIS
Matte’, A., Recchiuti, A., Federti, E., Kosinski, P. A., Riccardi, V., Iatcenko, I., Dang, L., Iolascon, A., Russo, R., Brugnara, C., Janin, A., Leboeuf, C., Mohandas, N., De Franceschi, L.
Published in HemaSphere (01.06.2022)
Published in HemaSphere (01.06.2022)
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Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force
North, K N, Riccardi, V, Samango-Sprouse, C, Ferner, R, Moore, B, Legius, E, Ratner, N, Denckla, M B
Published in Neurology (01.04.1997)
Published in Neurology (01.04.1997)
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P1483: EPELEUTON, A NOVEL SYNTHETIC SECOND GENERATION W-3 FATTY ACID, PROTECTS HUMANIZED SICKLE CELL MICE AGAINST HYPOXIA/REOXYGENATION ORGAN DAMAGE
Federti, E., Matte’, A., Hamza, M., Lafferty, A., Coughlan, D., Weissbach, M., Bhatt, D. L., Riccardi, V., Perissinotto, R., Siciliano, A., Climax, J., Brugnara, C., De Franceschi, L.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A
Published in American journal of human genetics (01.08.1996)
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Published in American journal of human genetics (01.08.1996)
Journal Article
Associations of clinical features in neurofibromatosis 1 (NF1)
Szudek, J., Birch, P., Riccardi, V.M., Evans, D.G., Friedman, J.M.
Published in Genetic epidemiology (01.12.2000)
Published in Genetic epidemiology (01.12.2000)
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Ocular Abnormalities in Neurofibromatosis 2
RAGGE, NICOLA K., BASER, MICHAEL E., KLEIN, JANA, NECHIPORUK, ALEX, SAINZ, JESUS, PULST, STEFAN-M., RICCARDI, VINCENT M.
Published in American journal of ophthalmology (01.11.1995)
Published in American journal of ophthalmology (01.11.1995)
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Chromosome 17p Deletions and p53 Gene Mutations Associated with the Formation of Malignant Neurofibrosarcomas in von Recklinghausen Neurofibromatosis
Menon, A. G., Anderson, K. M., Riccardi, V. M., Chung, R. Y., Whaley, J. M., Yandell, D. W., Farmer, G. E., Freiman, R. N., Lee, J. K., Li, F. P., Barker, D. F., Ledbetter, D. H., Kleider, A., Martuza, R. L., Gusella, J. F., Seizinger, B. R.
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1990)
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1990)
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Independent NF1 mutations in two large families with spinal neurofibromatosis
Messiaen, L, Riccardi, V, Peltonen, J, Maertens, O, Callens, T, Karvonen, S L, Leisti, E-L, Koivunen, J, Vandenbroucke, I, Stephens, K, Pöyhönen, M
Published in Journal of medical genetics (01.02.2003)
Published in Journal of medical genetics (01.02.2003)
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Angiogenic and Invasive Properties of Neurofibroma Schwann Cells
Sheela, Sharma, Riccardi, Vincent M., Ratner, Nancy
Published in The Journal of cell biology (01.08.1990)
Published in The Journal of cell biology (01.08.1990)
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Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations
Baser, M E, Mautner, V F, Ragge, N K, Nechiporuk, A, Riccardi, V M, Klein, J, Sainz, J, Pulst, S M
Published in Neurology (01.11.1996)
Published in Neurology (01.11.1996)
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Paternal age and sporadic neurofibromatosis 1: A case-control study and consideration of the methodologic issues
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