PMC Articles for MedGen (Select 83150) - PMC

Select item 98045791.

Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma

Neus Calbet‐Llopart, Marc Combalia, Anil Kiroglu, Miriam Potrony, Gemma Tell‐Martí, Andrea Combalia, Albert Brugues, Sebastian Podlipnik, Cristina Carrera, Susana Puig, Josep Malvehy, Joan Anton Puig‐Butillé

Br J Dermatol. 2022 Nov; 187(5): 753–764. Published online 2022 Aug 11. doi: 10.1111/bjd.21707

PMCID:: PMC9804579

Article PDF–977K

Select item 79763062.

Blue Rubber-Bleb Nevus Syndrome: Report of a Familial Case with a Dural Arteriovenous Fistula

Sílvia Carvalho, Vieira Barbosa, Nuno Santos, Egidio Machado

AJNR Am J Neuroradiol. 2003 Oct; 24(9): 1916–1918.

PMCID:: PMC7976306

Article PDF–119K

Select item 75728243.

Melanoma ex blue nevus with GNA11 mutation and BAP1 loss: case report and review of the literature

Li-Wei Chang, Viktoryia Kazlouskaya, Rashek Kazi, Diwakar Davar, Robert L. Ferris, Jonhan Ho, Arivarasan Karunamurthy, Jaroslaw J. Jedrych, Yuri L. Bunimovich

Am J Dermatopathol. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Am J Dermatopathol. 2020 Nov; 42(11): 854–857. doi: 10.1097/DAD.0000000000001652

PMCID:: PMC7572824

Article PDF–2.2M

Select item 64401954.

Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas

Nikolai Klebanov, William M. Lin, Mykyta Artomov, Michael Shaughnessy, Ching-Ni Njauw, Romi Bloom, Agda Karina Eterovic, Ken Chen, Tae-Beom Kim, Sandy S. Tsao, Hensin Tsao

JAMA Dermatol. 2019 Feb; 155(2): 211–215. Published online 2019 Jan 2. doi: 10.1001/jamadermatol.2018.4231

PMCID:: PMC6440195

Article

Select item 61101675.

BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi

Jasmine H. Francis, Hans E. Grossniklaus, Larissa A. Habib, Brian Marr, David H. Abramson, Klaus J. Busam

Invest Ophthalmol Vis Sci. 2018 Jan; 59(1): 117–121. doi: 10.1167/iovs.17-22517

PMCID:: PMC6110167

Article PDF–573K

Select item 58419736.

Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report

Ke-Ling Wang, Shu-Fang Ma, Ling-Yu Pang, Meng-Na Zhang, Lin-Yan Hu, Meng-Jia Liu, Li-Ping Zou

Medicine (Baltimore) 2018 Feb; 97(8): e9453. Published online 2018 Feb 23. doi: 10.1097/MD.0000000000009453

PMCID:: PMC5841973

Article PDF–300K

Select item 57684547.

Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus

Caitlin Porubsky, Jamie K. Teer, Yonghong Zhang, Maria Deschaine, Vernon Sondak, Jane L. Messina

J Cutan Pathol. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: J Cutan Pathol. 2018 Feb; 45(2): 180–183. Published online 2017 Dec 17. doi: 10.1111/cup.13082

PMCID:: PMC5768454

Article PDF–3.9M

Select item 55335148.

SF3B1 and BAP1 mutations in blue nevus-like melanoma

Klaus G Griewank, Hansgeorg Müller, Louise A Jackett, Michael Emberger, Inga Möller, Johannes AP van de Nes, Lisa Zimmer, Elisabeth Livingstone, Thomas Wiesner, Simone L Scholz, Ioana Cosgarea, Antje Sucker, Tobias Schimming, Uwe Hillen, Bastian Schilling, Annette Paschen, Henning Reis, Thomas Mentzel, Heinz Kutzner, Arno Rütten, Rajmohan Murali, Richard A Scolyer, Dirk Schadendorf

Mod Pathol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Mod Pathol. 2017 Jul; 30(7): 928–939. Published online 2017 Apr 14. doi: 10.1038/modpathol.2017.23

PMCID:: PMC5533514

Article PDF–3.7M

Select item 55186809.

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi

Inga Möller, Rajmohan Murali, Hansgeorg Müller, Thomas Wiesner, Louise A Jackett, Simone L Scholz, Ioana Cosgarea, Johannes AP van de Nes, Antje Sucker, Uwe Hillen, Bastian Schilling, Annette Paschen, Heinz Kutzner, Arno Rütten, Martin Böckers, Richard A Scolyer, Dirk Schadendorf, Klaus G Griewank

Mod Pathol. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Mod Pathol. 2017 Mar; 30(3): 350–356. Published online 2016 Dec 9. doi: 10.1038/modpathol.2016.201

PMCID:: PMC5518680

Article PDF–1.3M

Select item 529154910.

GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report

Sapna P. Patel, Dae Won Kim, Carol L. Lacey, Patrick Hwu

Medicine (Baltimore) 2016 Jan; 95(4): e2336. Published online 2016 Jan 29. doi: 10.1097/MD.0000000000002336

PMCID:: PMC5291549

Article PDF–374K

Select item 505371111.

Genetic profile of GNAQ-mutated blue melanocytic neoplasms reveals mutations in genes linked to genomic instability and the PI3K pathway

Mileidys Pérez-Alea, Ana Vivancos, Ginevra Caratú, Judit Matito, Berta Ferrer, Javier Hernandez-Losa, Javier Cortés, Eva Muñoz, Vicente Garcia-Patos, Juan A. Recio

Oncotarget. 2016 May 10; 7(19): 28086–28095. Published online 2016 Apr 4. doi: 10.18632/oncotarget.8578

PMCID:: PMC5053711

Article PDF–10M

Select item 460961312.

Genetics of Melanocytic Nevi

Mi Ryung Roh, Philip Eliades, Sameer Gupta, Hensin Tsao

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2015 Nov; 28(6): 661–672. doi: 10.1111/pcmr.12412

PMCID:: PMC4609613

Article PDF–911K

Select item 425787413.

Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes

Anna E. Barón, Nancy L. Asdigian, Victoria Gonzalez, Jenny Aalborg, Tamara Terzian, Regan A. Stiegmann, Enrique C.Torchia, Marianne Berwick, Robert P. Dellavalle, Joseph G.Morelli, Stefan T. Mokrohisky, Lori A. Crane, Neil F. Box

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2014 Dec; 23(12): 2829–2839. doi: 10.1158/1055-9965.EPI-14-0633

PMCID:: PMC4257874

Article PDF–530K

Select item 410102914.

Ambiguous Melanocytic Tumors with loss of 3p21

Iwei Yeh, Thaddeus W. Mully, Thomas Wiesner, Swapna S. Vemula, Sonia A. Mirza, Alyssa J. Sparatta, Timothy H. McCalmont, Boris C. Bastian, Philip E. LeBoit

Am J Surg Pathol. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Am J Surg Pathol. 2014 Aug; 38(8): 1088–1095. doi: 10.1097/PAS.0000000000000209

PMCID:: PMC4101029

Article PDF–2.0M

Select item 310797215.

Mutations in GNA11 in Uveal Melanoma

Catherine D. Van Raamsdonk, Klaus G. Griewank, Michelle B. Crosby, Maria C. Garrido, Swapna Vemula, Thomas Wiesner, Anna C. Obenauf, Werner Wackernagel, Gary Green, Nancy Bouvier, M. Mert Sozen, Gail Baimukanova, Ritu Roy, Adriana Heguy, Igor Dolgalev, Raya Khanin, Klaus Busam, Michael R. Speicher, Joan O’Brien, Boris C. Bastian

N Engl J Med. Author manuscript; available in PMC 2011 Jun 4.

Published in final edited form as: N Engl J Med. 2010 Dec 2; 363(23): 2191–2199. Published online 2010 Nov 17. doi: 10.1056/NEJMoa1000584

PMCID:: PMC3107972

Article PDF–207K

Select item 299123316.

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

Article PDF–1.0M

Select item 269613317.

Frequent somatic mutations of GNAQ in uveal melanoma and blue nevi

Catherine D. Van Raamsdonk, Vladimir Bezrookove, Gary Green, Jürgen Bauer, Lona Gaugler, Joan M. O’Brien, Elizabeth M. Simpson, Gregory S. Barsh, Boris C. Bastian

Nature. Author manuscript; available in PMC 2009 Jul 28.

Published in final edited form as: Nature. 2009 Jan 29; 457(7229): 599–602. Published online 2008 Dec 10. doi: 10.1038/nature07586

PMCID:: PMC2696133

Article PDF–517K

Select item 178534418.

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

David L. Duffy, Grant W. Montgomery, Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm

Am J Hum Genet. 2007 Feb; 80(2): 241–252. Published online 2006 Dec 20. doi: 10.1086/510885

PMCID:: PMC1785344

Article PDF–1.6M

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