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Items: 1 to 20 of 500

1.
MRI evaluation of diffuse subcutaneous neurofibroma of the lower limb in a low resource setting
Adenike Temitayo Adeniji-Sofoluwe, Olanrewaju Adebusuyi Ogunleye, Clement Abu Okolo
BJR Case Rep. 2018; 4(2): 20170090. Published online 2017 Dec 15. doi: 10.1259/bjrcr.20170090
PMCID:
PMC6159117
AbstractArticlePDF–488K
2.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C. Digilio, Shelley K. Dills, Laura Dosa, Robert S. Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J. Jones, Justin T. Jordan, Peter Kannu, Bruce R. Korf, Andrea M. Lewis, Robert H. Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie T. McDonald, Carey McDougall, Nancy Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A. Pond, Linda M. Randolph, Katherine A. Rauen, Surya Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela L. Trapane, Nicole J. Ullrich, Emily G. Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine Zackai, Kathleen B. M. Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M. Messiaen
Genet Med. 2019; 21(4): 867–876. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0269-0
Correction in:
Genet Med. 2019; 21(3): 764–765.
PMCID:
PMC6752285
AbstractArticlePDF–349K
3.
A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma
Yoyo Wing-Yiu Chu, Daniel Ka Leung Cheuk, Brian Hon Yin Chung, Naomi L Bowers, Shau-Yin Ha, Alan Kwok-Shing Chiang, Godfrey Chi-Fung Chan
BMJ Case Rep. 2014; 2014: bcr2014203919. Published online 2014 Nov 18. doi: 10.1136/bcr-2014-203919
PMCID:
PMC4244520
AbstractArticlePDF–660K
4.
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Adila Alkindy, Nadia Chuzhanova, Usha Kini, David N Cooper, Meena Upadhyaya
Hum Genomics. 2012; 6(1): 12. Published online 2012 Aug 13. doi: 10.1186/1479-7364-6-12
PMCID:
PMC3528442
AbstractArticlePDF–250K
5.
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
Ital J Pediatr. 2018; 44: 45. Published online 2018 Apr 4. doi: 10.1186/s13052-018-0483-z
PMCID:
PMC5885309
AbstractArticlePDF–610K
6.
Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth
Lennart Well, Kimberly Döbel, Lan Kluwe, Peter Bannas, Said Farschtschi, Gerhard Adam, Victor-Felix Mautner, Johannes Salamon
PLoS Genet. 2021 May; 17(5): e1009517. Published online 2021 May 5. doi: 10.1371/journal.pgen.1009517
PMCID:
PMC8099117
AbstractArticlePDF–1.6M
7.
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study
Diogo Lisbôa Basto, Gustavo de Souza Vieira, Raquel M. Andrade-Losso, Paula Nascimento Almeida, Vincent M. Riccardi, Rafaela Elvira Rozza-de-Menezes, Karin Soares Cunha
Orphanet J Rare Dis. 2022; 17: 341. Published online 2022 Sep 5. doi: 10.1186/s13023-022-02482-8
PMCID:
PMC9446792
AbstractArticlePDF–979K
8.
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Jirko Kühnisch, Karolina Kobus, Monika Osswald, Verena Heinrich, Peter Berlien, Ute Müller, Victor-F Mautner, Katharina Wimmer, Peter N Robinson, Martin Vingron, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk
Eur J Hum Genet. 2015 Jun; 23(6): 870–873. Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.210
PMCID:
PMC4795057
AbstractArticlePDF–205K
9.
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients
Teresa Esposito, Carla Schettino, Paola Polverino, Salvatore Allocca, Laura Adelfi, Alessandra D’Amico, Guglielmo Capaldo, Bruno Varriale, Anna Di Salle, Gianfranco Peluso, Giuseppe Sorrentino, Giacomo Lus, Simone Sampaolo, Giuseppe Di Iorio, Mariarosa Anna Beatrice Melone
Nutrients. 2017 Jul; 9(7): 783. Published online 2017 Jul 21. doi: 10.3390/nu9070783
PMCID:
PMC5537897
AbstractArticlePDF–3.8M
10.
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva
Neurogenetics. 2023; 24(3): 181–188. Published online 2023 May 5. doi: 10.1007/s10048-023-00718-8
PMCID:
PMC10319651
AbstractArticlePDF–1.0M
11.
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort
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
Cancers (Basel) 2023 Jan; 15(1): 59. Published online 2022 Dec 22. doi: 10.3390/cancers15010059
PMCID:
PMC9817775
AbstractArticlePDF–696K
12.
Neurofibromatosis 1: A family case series
Neha K. Sethi, Charu Chadha, Sumit Goyal, Manpreet Kaur
J Family Med Prim Care. 2022 May; 11(5): 2252–2255. Published online 2022 May 14. doi: 10.4103/jfmpc.jfmpc_1933_21
PMCID:
PMC9254752
AbstractArticlePDF–1.6M
13.
Concomitant existence of pheochromocytoma in a patient with multiple endocrine neoplasia type 1
Ryo Okada, Tatsuo Shimura, Shigeyuki Tsukida, Jin Ando, Yasuhide Kofunato, Tomoyuki Momma, Rei Yashima, Yoshihisa Koyama, Shinichi Suzuki, Seiichi Takenoshita
Surg Case Rep. 2016 Dec; 2(1): 84. Published online 2016 Aug 30. doi: 10.1186/s40792-016-0214-x
PMCID:
PMC5005233
AbstractArticlePDF–2.0M
14.
Neurofibromatosis type 1: evaluation by chest computed tomography
Sérgio Ferreira Alves Júnior, Klaus Loureiro Irion, Alessandro Severo Alves de Melo, Gustavo de Souza Portes Meirelles, Rosana Souza Rodrigues, Arthur Soares Souza Jr., Bruno Hochhegger, Gláucia Zanetti, Edson Marchiori
Radiol Bras. 2021 Nov-Dec; 54(6): 375–380. doi: 10.1590/0100-3984.2020.0150
PMCID:
PMC8630947
AbstractArticlePDF–1.7M
15.
Concomitant composite adrenal pheochromocytoma, multiple gastric stromal tumours and pseudohermaphrodism in a patient with von Recklinghausen's disease
Dean Lisewski, Simon Ryan, Ee Mun Lim, Felicity Frost, Hieu Nguyen
Int Semin Surg Oncol. 2006; 3: 11. Published online 2006 Apr 26. doi: 10.1186/1477-7800-3-11
PMCID:
PMC1459175
AbstractArticlePDF–753K
16.
Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report
Xian-shuai Li, Shu-qian He, Xian-guo Chen
BMC Surg. 2021; 21: 258. Published online 2021 May 24. doi: 10.1186/s12893-021-01258-4
PMCID:
PMC8145786
AbstractArticlePDF–1.0M
17.
Subcutaneous neurofibroma as a cause of lameness in a warmblood horse: Neurofibroma in a horse
Riccardo RINNOVATI, Socrate XENOS, Andrea BELTRAME, Andrea MARIGO, Giulia FORNI, Maria MORINI
J Equine Sci. 2020 Oct; 31(3): 45–48. Published online 2020 Oct 5. doi: 10.1294/jes.31.45
PMCID:
PMC7538260
AbstractArticlePDF–1.8M
18.
Cannabidiol (CBD) for Treatment of Neurofibromatosis-related Pain and Concomitant Mood Disorder: A Case Report
Omar Hegazy, Howard Platnick
Cureus. 2019 Dec; 11(12): e6312. Published online 2019 Dec 6. doi: 10.7759/cureus.6312
PMCID:
PMC6944157
AbstractArticlePDF–87K
19.
Quantitative Assessment of Whole-Body Tumor Burden in Adult Patients with Neurofibromatosis
Scott R. Plotkin, Miriam A. Bredella, Wenli Cai, Ara Kassarjian, Gordon J. Harris, Sonia Esparza, Vanessa L. Merker, Lance L. Munn, Alona Muzikansky, Manor Askenazi, Rosa Nguyen, Ralph Wenzel, Victor F. Mautner
PLoS One. 2012; 7(4): e35711. Published online 2012 Apr 27. doi: 10.1371/journal.pone.0035711
PMCID:
PMC3338705
AbstractArticlePDF–748K
20.
At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study
Emilie Sbidian, Sylvie Bastuji-Garin, Laurence Valeyrie-Allanore, Salah Ferkal, Jean P Lefaucheur, Alain Drouet, Pierre Brugière, Cédric Vialette, Patrick Combemale, Sébastien Barbarot, Pierre Wolkenstein
Orphanet J Rare Dis. 2011; 6: 51. Published online 2011 Jul 13. doi: 10.1186/1750-1172-6-51
PMCID:
PMC3149567
AbstractArticlePDF–385K

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