نتائج البحث - "Stefania Lo Cicero"

المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184

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6

Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells

المؤلفون: Valentina Salvati, Sabina Maria Bruno, Ruggero De Maria, Silvia Pierandrei, Germana Castelli, Marco Lucarelli, Stefania Lo Cicero, Benedetta Fabrizzi, Mario Falchi, Adriana Eramo, Giovanna Blaconà, Mauro Biffoni, Giuseppe Cimino, Giovanni Sette

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9424fdc51bec3b8282ad8e9894b347
http://hdl.handle.net/10807/206067

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7

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

المساهمون: Cordeddu, V., Macke, E. L., Radio, F. C., Lo Cicero, S., Pantaleoni, F., Tatti, M., Bellacchio, E., Ciolfi, A., Agolini, E., Bruselles, A., Brunetti-Pierri, Nicola, Suri, M., Josephs, K. S., Mcentagart, M., Lanpher, B., Nickels, K. C., Haworth, A., Reed, L., Cappuccio, G., Mammi, I., Tarnowski, J. M., Novelli, A., Melis, D., Callewaert, B., Dallapiccola, B., Klee, E., Tartaglia, M.

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Deficiency syndrome, genotype-phenotype correlations, UBE2A, clinical variation, intellectual disability Nascimento type, mutation spectrum, 030105 genetics & heredity, Protein degradation, genotype-phenotype correlation, Hypogammaglobulinemia, 03 medical and health sciences, Pineal gland, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genitourinary system, business.industry, Infant, Genetic Diseases, X-Linked, medicine.disease, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Urogenital Abnormalities, Ubiquitin-Conjugating Enzymes, Skin Abnormalities, Female, business, Binding domain