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Items: 15

1.
Checkpoint inhibitors and radiotherapy in refractory malignant melanocytic schwannoma with Carney complex: first evidence of efficacy
Jyoti Bajpai, Akhil Kapoor, Rakesh Jalali, Mrinal M Gounder
BMJ Case Rep. 2021; 14(5): e240296. Published online 2021 May 28. doi: 10.1136/bcr-2020-240296
PMCID:
PMC8166596
AbstractArticlePDF–765K
2.
Melanotic Tumors of the Nervous System are Characterized by Distinct Mutational, Chromosomal and Epigenomic Profiles
Christian Koelsche, Volker Hovestadt, David T. W. Jones, David Capper, Dominik Sturm, Felix Sahm, Daniel Schrimpf, Sebastian Adeberg, Katja Böhmer, Christian Hagenlocher, Gunhild Mechtersheimer, Patricia Kohlhof, Helmut Mühleisen, Rudi Beschorner, Christian Hartmann, Anne Kristin Braczynski, Michel Mittelbronn, Rolf Buslei, Albert Becker, Alexander Grote, Horst Urbach, Ori Staszewski, Marco Prinz, Ekkehard Hewer, Stefan M. Pfister, Andreas von Deimling, David E. Reuss
Brain Pathol. 2015 Mar; 25(2): 202–208. Published online 2014 Dec 15. doi: 10.1111/bpa.12228
PMCID:
PMC8029316
AbstractArticlePDF–680K
3.
Diagnostic Pathology of Tumors of Peripheral Nerve
Sarra M Belakhoua, Fausto J Rodriguez
Neurosurgery. 2021 Mar; 88(3): 443–456. Published online 2021 Feb 16. doi: 10.1093/neuros/nyab021
PMCID:
PMC7884141
AbstractArticlePDF–1.3M
4.
Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1
Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson
Mol Genet Genomic Med. 2020 Oct; 8(10): e1400. Published online 2020 Aug 31. doi: 10.1002/mgg3.1400
PMCID:
PMC7549607
AbstractArticlePDF–1.2M
5.
Sporadic melanotic schwannoma overlapping with features of melanocytoma bearing a GNA11 mutation in an adolescent girl
Christina Tatsi, Flora Bacopoulou, Charalampos Lyssikatos, Elena Belyavskaya, Fabio Faucz, Constantine A. Stratakis
Pediatr Blood Cancer. Author manuscript; available in PMC 2018 Dec 28.
Published in final edited form as: Pediatr Blood Cancer. 2017 Jun; 64(6): 10.1002/pbc.26400. Published online 2016 Dec 24. doi: 10.1002/pbc.26400
PMCID:
PMC6309823
AbstractArticlePDF–473K
6.
Malignant gastrointestinal neuroectodermal tumor: a case report and review of the literature
Mohammed J. Alyousef, Jumana A. Alratroot, Tarek ElSharkawy, Mohamed A. Shawarby, Mohammad A. Al hamad, Tarek M. Hashem, Ahmed Alsayyah
Diagn Pathol. 2017; 12: 29. Published online 2017 Mar 20. doi: 10.1186/s13000-017-0620-9
PMCID:
PMC5359837
AbstractArticlePDF–813K
7.
In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells
Jennifer Allouche, Nathalia Bellon, Manoubia Saidani, Laure Stanchina-Chatrousse, Yolande Masson, Anand Patwardhan, Floriane Gilles-Marsens, Cédric Delevoye, Sophie Domingues, Xavier Nissan, Cécile Martinat, Gilles Lemaitre, Marc Peschanski, Christine Baldeschi
Proc Natl Acad Sci U S A. 2015 Jul 21; 112(29): 9034–9039. Published online 2015 Jul 6. doi: 10.1073/pnas.1501032112
PMCID:
PMC4517235
AbstractArticlePDF–1.0M
8.
Improved discrimination of melanotic schwannoma from melanocytic lesions by combined morphological and GNAQ mutational analysis
Heidi V. N. Küsters-Vandevelde, Ilse A. C. H. van Engen-van Grunsven, Benno Küsters, Marcory R. C. F. van Dijk, Patricia J. T. A. Groenen, Pieter Wesseling, Willeke A. M. Blokx
Acta Neuropathol. 2010; 120(6): 755–764. Published online 2010 Sep 24. doi: 10.1007/s00401-010-0749-z
PMCID:
PMC2991233
AbstractArticlePDF–1.0M
9.
A Quantitative Assessment of the Burden and Distribution of Lisch Nodules in Adults with Neurofibromatosis Type 1
Sean Boley, Jennifer L. Sloan, Alexander Pemov, Douglas R. Stewart
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Nov; 50(11): 5035–5043. Published online 2009 Jun 10. doi: 10.1167/iovs.09-3650
PMCID:
PMC2883270
AbstractArticlePDF–2.4M
10.
Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1
Ophélia  Maertens, Sofie  De Schepper, Jo  Vandesompele, Hilde  Brems, Ine  Heyns, Sandra  Janssens, Frank  Speleman, Eric  Legius, Ludwine  Messiaen
Am J Hum Genet. 2007 Aug; 81(2): 243–251. Published online 2007 Jun 20. doi: 10.1086/519562
PMCID:
PMC1950809
AbstractArticlePDF–173K
11.
Expression of Microtubule-Associated Protein 2 in Benign and Malignant Melanocytes : Implications for Differentiation and Progression of Cutaneous Melanoma
Dong Fang, James Hallman, Namrata Sangha, Timothy E. Kute, James A. Hammarback, Wain L. White, Vijayasaradhi Setaluri
Am J Pathol. 2001 Jun; 158(6): 2107–2115. doi: 10.1016/S0002-9440(10)64682-2
PMCID:
PMC1892002
AbstractArticlePDF–792K
12.
Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR
Albert Rübben, Birke Bausch, Arjen Nikkels
Mol Cancer. 2006; 5: 36. Published online 2006 Sep 10. doi: 10.1186/1476-4598-5-36
PMCID:
PMC1570477
AbstractArticlePDF–2.5M
13.
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.
S Hoffmeyer, P Nürnberg, H Ritter, R Fahsold, W Leistner, D Kaufmann, W Krone
Am J Hum Genet. 1998 Feb; 62(2): 269–277. doi: 10.1086/301715
PMCID:
PMC1376891
SummaryPDF–880K
14.
Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro
Ralf Kemkemer, Stephanie Schrank, Walther Vogel, Hans Gruler, Dieter Kaufmann
Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21): 13783–13788. Published online 2002 Oct 4. doi: 10.1073/pnas.212386999
PMCID:
PMC129775
AbstractArticlePDF–190K
15.
Melanosis and associated tumors in transgenic mice.
A Klein-Szanto, M Bradl, S Porter, B Mintz
Proc Natl Acad Sci U S A. 1991 Jan 1; 88(1): 169–173. doi: 10.1073/pnas.88.1.169
PMCID:
PMC50771
SummaryPage BrowsePDF–2.1M

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