المؤلفون: Bettinaglio, Paola, Tritto, Viviana, Paterra, Rosina, Eoli, Marica, Riva, Paola

المساهمون: P. Bettinaglio, V. Tritto, R. Paterra, M. Eoli, P. Riva

مصطلحات موضوعية: NF1 allelic expression, NF1 double heterozygote, chip-based digital PCR, neurofibromatosis type 1, spinal neurofibromatosis, Settore BIO/13 - Biologia Applicata

Relation: info:eu-repo/semantics/altIdentifier/pmid/38018226; info:eu-repo/semantics/altIdentifier/wos/WOS:001110377000001; volume:88; issue:3; firstpage:183; lastpage:193; numberofpages:11; journal:ANNALS OF HUMAN GENETICS; https://hdl.handle.net/2434/1021334; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85178231332

الاتاحة: https://hdl.handle.net/2434/1021334
https://doi.org/10.1111/ahg.12540

المؤلفون: Bettinaglio, Paola, Mangano, Eleonora, Tritto, Viviana, Bordoni, Roberta, Paterra, Rosina, Borghi, Arianna, Volontè, Marinella, Battaglia, Cristina, Saletti, Veronica, Cesaretti, Claudia, Natacci, Federica, Melone, Mariarosa A B, Eoli, Marica, Riva, Paola

المساهمون: P. Bettinaglio, E. Mangano, V. Tritto, R. Bordoni, R. Paterra, A. Borghi, M. Volontè, C. Battaglia, V. Saletti, C. Cesaretti, F. Natacci, M.A.B. Melone, M. Eoli, P. Riva

مصطلحات موضوعية: Spinal Neurofibromatosis 1, NF1 gene 3' tertile, missense mutation, mutation analysi, Settore BIO/13 - Biologia Applicata

Relation: info:eu-repo/semantics/altIdentifier/pmid/37217626; info:eu-repo/semantics/altIdentifier/wos/WOS:000993660800003; firstpage:1; lastpage:8; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2434/971219; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160055489

الاتاحة: https://hdl.handle.net/2434/971219
https://doi.org/10.1038/s41431-023-01377-x

المؤلفون: Ali Baradaran Bagheri, Sepehr Aghajanian, Aliasghar Taghi Doulabi, Mehdi Chavoshi-Nejad, Somayeh Sorouredin Abadi

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: spinal neurofibromatosis, nerve sheath tumor, Von Recklinghausen's disease, spinal tumor, neurosurgical oncology, case report, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.976929/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e1dc7f63abe74d25a62dd46be83ef909

المؤلفون: Paterra, Rosina, Bettinaglio, Paola, Borghi, Arianna, Mangano, Eleonora, Tritto, Viviana, Cesaretti, Claudia, Schettino, Carla, Bordoni, Roberta, Santoro, Claudia, Avignone, Sabrina, Moscatelli, Marco, Melone, Mariarosa AB, Saletti, Veronica, Piluso, Giulio, Natacci, Federica, Riva, Paola, Eoli, Marica, Melone|0000-0002-7213-9277

المساهمون: Sbarro Health Research Organization (SHRO) (Temple University)

مصطلحات موضوعية: Neurofibromatosis type 1, Spinal neurofibromatosis, Neurofibroma, Spinal tumors, NF1 pathogenic variant

وصف الملف: 23 pages

Relation: MDPI; http://dx.doi.org/10.3390/cancers15010059; Cancers, Vol. 15, Iss. 1; Faculty/ Researcher Works; Paterra, R.; Bettinaglio, P.; Borghi, A.; Mangano, E.; Tritto, V.; Cesaretti, C.; Schettino, C.; Bordoni, R.; Santoro, C.; Avignone, S.; et al. A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort. Cancers 2023, 15, 59. https://doi.org/10.3390/cancers15010059; http://hdl.handle.net/20.500.12613/10113

الاتاحة: https://hdl.handle.net/20.500.12613/10113

المؤلفون: Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Claudia Cesaretti, Carla Schettino, Roberta Bordoni, Claudia Santoro, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone, Veronica Saletti, Giulio Piluso, Federica Natacci, Paola Riva, Marica Eoli

المصدر: Cancers; Volume 15; Issue 1; Pages: 59

مصطلحات موضوعية: neurofibromatosis type 1, spinal neurofibromatosis, neurofibroma, spinal tumors, NF1 pathogenic variant

وصف الملف: application/pdf

Relation: Cancer Causes, Screening and Diagnosis; https://dx.doi.org/10.3390/cancers15010059

الاتاحة: https://doi.org/10.3390/cancers15010059

المؤلفون: Zeqian Ning, Zhiqian Yang, Gaofei Chen, Wenjiao Wu, Longshuang He, Yesheng Sun, Dongpeng Cai, Wei Zhang

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: classic neurofibromatosis type 1, NF1 gene mutation, spinal neurofibromatosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/668bbc28af794270ba8cb88789ca48fa

المؤلفون: Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Claudia Cesaretti, Carla Schettino, Roberta Bordoni, Claudia Santoro, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone, Veronica Saletti, Giulio Piluso, Federica Natacci, Paola Riva, Marica Eoli

المساهمون: Paterra, Rosina, Bettinaglio, Paola, Borghi, Arianna, Mangano, Eleonora, Tritto, Viviana, Cesaretti, Claudia, Schettino, Carla, Bordoni, Roberta, Santoro, Claudia, Avignone, Sabrina, Moscatelli, Marco, Melone, Mariarosa Anna Beatrice, Saletti, Veronica, Piluso, Giulio, Natacci, Federica, Riva, Paola, Eoli, Marica

المصدر: Cancers; Volume 15; Issue 1; Pages: 59

مصطلحات موضوعية: Cancer Research, Oncology, Settore BIO/13 - Biologia Applicata, neurofibromatosis type 1, spinal neurofibromatosis, neurofibroma, spinal tumors, NF1 pathogenic variant, spinal tumor, spinal neurofibromatosi

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c44b02efaf947284d97573ff55a8cdf
https://hdl.handle.net/11591/486120

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata JM, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004

مصطلحات موضوعية: Medicine and Health Sciences, genotype-phenotype correlation, NF1, p.Arg1276, p.Lys1423, p.Met1149, OPTIC PATHWAY TUMORS, SOUTH EAST WALES, AU-LAIT SPOTS, NOONAN-SYNDROME, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, SPINAL NEUROFIBROMATOSIS, PULMONARY STENOSIS, NATURAL-HISTORY, INDEPENDENT NF1, MUTATIONS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8632274; http://hdl.handle.net/1854/LU-8632274; http://dx.doi.org/10.1002/humu.23929; https://biblio.ugent.be/publication/8632274/file/8639135

الاتاحة: https://biblio.ugent.be/publication/8632274
http://hdl.handle.net/1854/LU-8632274
https://doi.org/10.1002/humu.23929
https://biblio.ugent.be/publication/8632274/file/8639135

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المساهمون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Ojeda, Mayra Martinez, Mcdougall, Carey, Mcgregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المصدر: Human Mutation
Human mutation
HUMAN MUTATION

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, INDEPENDENT NF1, Neurofibromatosis 1, NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149, NOONAN-SYNDROME, Mutation, Missense, PULMONARY STENOSIS, AU-LAIT SPOTS, Medicine and Health Sciences, Humans, Genetic Predisposition to Disease, Met1149, Alleles, Genetic Association Studies, Research Articles, Arg1276, Genetics & Heredity, SPINAL NEUROFIBROMATOSIS, Science & Technology, Neurofibromin 1, MUTATIONS, OPTIC PATHWAY TUMORS, NATURAL-HISTORY, genotype–phenotype correlation, SOUTH EAST WALES, nervous system diseases, Lys1423, Cross-Sectional Studies, Phenotype, Amino Acid Substitution, Human medicine, Life Sciences & Biomedicine, Research Article

وصف الملف: Print-Electronic; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8e6812a2caa160ce6729e5fdb8b7d05e
https://pubmed.ncbi.nlm.nih.gov/31595648

المؤلفون: Waqar, Mueez, Huson, Susan, Evans, D Gareth, Ealing, John, Karabatsou, Konstantina, Joshi George, K., Soh, Calvin

المصدر: Waqar , M , Huson , S , Evans , D G , Ealing , J , Karabatsou , K , Joshi George , K & Soh , C 2019 , ' C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics ' , Journal of neurosurgery. Spine , vol. 30 . https://doi.org/10.3171/2018.7.spine171340

مصطلحات موضوعية: Neurofibromatosis, neurofibromatosis type 1, Von Recklinghausen’s disease, spinal neurofibromas, spinal neurofibromatosis

الاتاحة: https://research.manchester.ac.uk/en/publications/4c3f25ab-f04c-44cb-b2b7-73bc73b08910
https://doi.org/10.3171/2018.7.spine171340

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 6, No 01 | Jan 1992; 5-6 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-6-1

مصطلحات موضوعية: Familial Spinal Neurofibromatosis, Cutaneous Tumors, Autosomal Dominant

وصف الملف: application/xml; application/pdf

Relation: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-6-1-8/6218; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-6-1-8/6221; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-6-1-8

الاتاحة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-6-1-8
https://doi.org/10.15844/pedneurbriefs-6-1-8

المؤلفون: Elizabeth Siqveland, Concepción Hernández-Chico, Jonathan Zonana, Melissa Crenshaw, Maurice J. Mahoney, Eric Legius, Helene Verhelst, Débora Romeo Bertola, Karen W. Gripp, Tom Callens, Jaishri O. Blakeley, Nicole J. Ullrich, Arelis Martir-Negron, Karol Rubin, Marica Eoli, Margaret R. Wallace, Jose Guevara-Campos, Karin Dahan, Zhenbin Chen, Patricia Galvin-Parton, Elaine H. Zackai, Isabelle Maystadt, Radhika Dhamija, Lane S. Rutledge, Meriel McEntagart, Rick van Minkelen, Geert Mortier, Meena Balasubramanian, La Donna Immken, Maria Daniela D'Agostino, Anne Destree, Alicia Gomes, Kenneth N. Rosenbaum, Rhonda L. Schonberg, Emma Burkitt-Wright, Meng-Chang Hsiao, Meena Upadhyaya, Sherrell Johnson, Meredith Seidel, Alessandro De Luca, Troy A. Becker, David T. Miller, Veronica Saletti, Bruce R. Korf, Shay Ben-Shachar, Carey McDougall, David W. Stockton, Magdalena Koczkowska, Kathleen Claes, Laura Russell, Ludwine Messiaen, D. Gareth Evans, Mitch Cunningham, Allison Schreiber, Scott R. Plotkin, Dinel A. Pond, Kristi J. Jones, Vickie Zurcher, Jaya K. George-Abraham, Alison Callaway, Beth Keena, Yunjia Chen, Neil A. Hanchard, Angela Sharp, Yoon Sim Yap, Karin Soares Gonçalves Cunha, Nancy J. Mendelsohn, Jenny Morton, Christopher P. Barnett, Yolanda Martin, Aaina Kochhar, Eva Trevisson, Jan Liebelt, John Pappas, Sandra Janssens

المساهمون: Clinical Genetics

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Cohort Studies, codons 844–848, Medicine and Health Sciences, Missense mutation, CSRD, Child, Genetics (clinical), Neurofibromatosis type I, Genetics, education.field_of_study, NEUROFIBROMATOSIS TYPE-I, Neurofibromin 1, Genetic disorder, Phenotype, NERVE SHEATH TUMORS, Female, codons 844-848, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, spinal NF, Neurofibromatosis 1, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Adolescent, Genetic counseling, Population, Mutation, Missense, NOONAN-SYNDROME, Spinal neurofibromas, genotype-phenotype correlation, neurofibromatosis type 1, Article, 03 medical and health sciences, Young Adult, MPNST, missense mutation, NF1, plexiform neurofibroma, medicine, Humans, Computer Simulation, Amino Acid Sequence, OPTIC PATHWAY GLIOMAS, Neurofibromatosis, education, Codon, Genetic Association Studies, Demography, SPINAL NEUROFIBROMATOSIS, business.industry, Biology and Life Sciences, NATURAL-HISTORY, SOUTH EAST WALES, medicine.disease, 030104 developmental biology, TYPE-1 NEUROFIBROMATOSIS, Human medicine, business, PLEXIFORM NEUROFIBROMAS

وصف الملف: application/pdf; Print-Electronic; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fb40e7374e1b5e11ec8bd5755064
https://hdl.handle.net/1854/LU-8546030

المؤلفون: Ruggieri M., Polizzi A., Spalice A., Salpietro V., Caltabiano R., D'Orazi V., Pavone P., Pirrone C., Magro G., Platania N., Cavallaro S., Muglia M., Nicita F.

المصدر: Clinical genetics 87 (2015): 401–410. doi:10.1111/cge.12498
info:cnr-pdr/source/autori:Ruggieri M.; Polizzi A.; Spalice A.; Salpietro V.; Caltabiano R.; D'Orazi V.; Pavone P.; Pirrone C.; Magro G.; Platania N.; Cavallaro S.; Muglia M.; Nicita F./titolo:The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features/doi:10.1111%2Fcge.12498/rivista:Clinical genetics/anno:2015/pagina_da:401/pagina_a:410/intervallo_pagine:401–410/volume:87

مصطلحات موضوعية: Neurofibromatoses, genetic processes, fungi, Multiple neurofibromas, Disease Management, macromolecular substances, Paraspinal neurofibromatosis, Diagnosis, Differential, Familial spinal neurofibromatosis, enzymes and coenzymes (carbohydrates), Spinal neurofibromatosis, Phenotype, NF1, Genes, Neurofibromatosis 1, Mutation, familial spinal neurofibromatosis, multiple neurofibromas, paraspinal neurofibromatosis, spinal neurofibromatosis, Disease Progression, familial spinal neurofibromatosis. paraspinal neurofibromatosis. multiple neurofibromas, Humans, Family, Genetic Testing, human activities, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6e6ad587323eecfda2288f67510ea514
http://hdl.handle.net/11573/598385

المؤلفون: Ruggieri, Martino, Polizzi, A, Nicita, F, Spalice, A, Salpietro, V, Caltabiano, Rosario, D’Orazi, V, Pirrone, Concetta, Pavone, P, Cavallaro, S, Muglia, M.

مصطلحات موضوعية: NF1, familial spinal neurofibromatosis, multiple neurofibromas, paraspinal neurofibromatosis, spinal neurofibromatosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4731::a8a3b6ea09e2658777ef63538187a05a
http://hdl.handle.net/20.500.11769/16940

المؤلفون: Angela Distefano, Caterina Nucifora, Luca Padua, Rosario Caltabiano, Francesco Nicita, Francesca Granata, A. L. Gabriele, Vito Pavone, Kshitij Mankad, A. Panunzi, Piero Pavone, Raffaele Falsaperla, Gemma Incorpora, Pietro Milone, N. Platania, Salvatore Lanzafame, Andrea Ortensi, Martino Ruggieri, Vincenzo Albanese, Agata Polizzi, Vincenzo Salpietro, Valerio D'Orazi

المصدر: Neuropediatrics 44 (2013): 239–244. doi:10.1055/s-0033-1343350
info:cnr-pdr/source/autori:Ruggieri M.; Polizzi A.; Salpietro V.; Incorpora G.; Nicita F.; Pavone P.; Falsaperla R.; Nucifora C.; Granata F.; Distefano A.; Padua L.; Caltabiano R.; Lanzafame S.; Gabriele A.; Ortensi A.; D'Orazi V.; Panunzi A.; Milone P.; Mankad K.; Platania N.; Albanese V.; Pavone V./titolo:Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: Further expansion of the phenotype/doi:10.1055%2Fs-0033-1343350/rivista:Neuropediatrics/anno:2013/pagina_da:239/pagina_a:244/intervallo_pagine:239–244/volume:44

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Neurofibromatoses, literature review, Central nervous system, Monozygotic twin, Disease, Gene mutation, familial spinal neurofibromatosis, Monozygotic, brain abnormalities, Basal ganglia, Diseases in Twins, Humans, Medicine, Missense mutation, Genetic Testing, Neurofibromatosis, Genetic testing, Familial spinal neurofibromatosis, twins, medicine.diagnostic_test, business.industry, Cafe-au-Lait Spots, Brain, Twins, Monozygotic, General Medicine, medicine.disease, Female, Phenotype, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e756cbf94f5e992d0ad584bd145118
http://hdl.handle.net/10807/54009

المؤلفون: Jordi Rosell, H Kruyer, Victor Volpini, Antonia Gaona, Eduard Serra, Elisabet Ars, Xavier Estivill, Pilar Casquero, Conxi Lázaro

المصدر: The American Journal of Human Genetics. 62(4):834-841

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, Locus (genetics), Spinal neurofibromas, Frameshift mutation, Neurofibromatosis, Exon, Spinal neurofibromatosis, Café au lait spot, medicine, Genetics, Humans, Genetics(clinical), Child, Frameshift Mutation, neoplasms, Genetics (clinical), Neurofibromin 1, biology, Proteins, Middle Aged, medicine.disease, eye diseases, nervous system diseases, Pedigree, Spinal Cord, NF1, Phenotype/genotype correlation, Mutation testing, biology.protein, Female, medicine.symptom, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38969fb1e10eabc751d7fe0ebe5c5b41

المؤلفون: Martino Ruggieri, Laura Papetti, Francesco Nicita, Alberto Spalice, Isabella Torrente, Valentina Pinna, Irene Bottillo, Fabiana Ursitti

مصطلحات موضوعية: Pathology, family, Gene mutation, physiology (medical), Exon, mutation missense, middle aged, neurofibromatosis 1, DNA mutational analysis, Medicine, Missense mutation, magnetic resonance imaging, humans, genes, neurology (clinical), Genetics, pedigree, General Medicine, medicine.anatomical_structure, female, Mutation (genetic algorithm), young adult, neurocutaneous syndrome, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, phenotype, Mutation, Missense, Context (language use), Familial spinal neurofibromatosis, Phakomatosis, male, Genes, Neurofibromatosis 1, Neurofibromatosis, neoplasms, neurofibromatosis, phakomatosis, business.industry, neurology, NF1, spinal cord, base sequence, neck, neurofibromatoses, genes, neurofibromatosis 1, medicine.disease, Spinal cord, eye diseases, nervous system diseases, Surgery, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a6b7aab1aa60358772036a14699ba41
http://hdl.handle.net/11573/738463

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 6, Iss 1, Pp 5-6 (1992)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Neurology, business.industry, lcsh:RJ1-570, cutaneous tumors, lcsh:Pediatrics, familial spinal neurofibromatosis, medicine.disease, Health informatics, Salt lake, Cutaneous tumors, Genetic linkage analysis, autosomal dominant, medicine, Medical genetics, Neurofibromatosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b062f2fb06a84821bfd610ea7fc5745
https://www.pediatricneurologybriefs.com/articles/3119

المؤلفون: Heininger, Sina Alice

الاتاحة: http://data.europeana.eu/aggregation/europeana/2048441/item_NJR3BWJVMK3EZBQX4RYIG3XF77BKGJZU

المؤلفون: Ruggieri, M, Polizzi, A, Salpietro, V, Incorpora, G, Nicita, F, Pavone, P, Falsaperla, R, Nucifora, C, Granata, F, Distefano, A, Padua, Luca, Caltabiano, R, Lanzafame, S, Gabriele, Al, Ortensi, A, D'Orazi, V, Panunzi, A, Milone, P, Mankad, K, Platania, N, Albanese, V, Pavone, V., Padua, Luca (ORCID:0000-0003-2570-9326)

مصطلحات الفهرس: familial spinal neurofibromatosis, twins, brain abnormalities, literature review, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/54009
info:eu-repo/semantics/altIdentifier/pmid/23780384
info:eu-repo/semantics/altIdentifier/wos/WOS:000324755000001
volume:44
issue:05
firstpage:239
lastpage:244
numberofpages:6
issueyear:2013
journal:NEUROPEDIATRICS