PMC Links for Books (Select 5282706) - PMC

Select item 92349401.

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation

Renée J. H. RICHTERS, Marieke M. B. SEYGER, Kim A. P. MEEUWIS, Tuula RINNE, Astrid EIJKELENBOOM, Michěl A. WILLEMSEN

Acta Derm Venereol. 2020; 100(8): 5623. Published online 2020 Apr 6. doi: 10.2340/00015555-3358

PMCID:: PMC9234940

Select item 68244162.

Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis

Andrea Córdoba, Enrique O. Graue-Hernández, Alejandro Navas, Oscar F. Chacon-Camacho, Juan C. Zenteno, Arturo Ramirez-Miranda, Jose Antonio Bermudez-Magner, Thania Ordaz-Robles, Sofia Pérez-Solórzano, Andrew Olivo-Payne

Am J Case Rep. 2019; 20: 1566–1571. Published online 2019 Oct 25. doi: 10.12659/AJCR.918684

PMCID:: PMC6824416

Abstract Article PDF–2.1M

Select item 65032183.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Oscar F. Chacon‐Camacho, Daniel Lopez‐Moreno, Martha A. Morales‐Sanchez, Enriqueta Hofmann, Michelle Pacheco‐Quito, Ilse Wieland, Vianney Cortes‐Gonzalez, Cristina Villanueva‐Mendoza, Martin Zenker, Juan Carlos Zenteno

Mol Genet Genomic Med. 2019 May; 7(5): e625. Published online 2019 Mar 19. doi: 10.1002/mgg3.625

PMCID:: PMC6503218

Abstract Article PDF–1.0M

Select item 65018254.

An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

Ute Moog, William B. Dobyns

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Dec; 178(4): 414–422. doi: 10.1002/ajmg.c.31667

PMCID:: PMC6501825

Abstract Article PDF–717K

Select item 62125335.

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

Carolina Cavalieri Gomes, Tenzin Gayden, Andrea Bajic, Osama F. Harraz, Jonathan Pratt, Hamid Nikbakht, Eric Bareke, Marina Gonçalves Diniz, Wagner Henriques Castro, Pascal St-Onge, Daniel Sinnett, HyeRim Han, Barbara Rivera, Leonie G. Mikael, Nicolas De Jay, Claudia L. Kleinman, Elvis Terci Valera, Angelia V. Bassenden, Albert M. Berghuis, Jacek Majewski, Mark T. Nelson, Ricardo Santiago Gomez, Nada Jabado

Nat Commun. 2018; 9: 4572. Published online 2018 Nov 1. doi: 10.1038/s41467-018-06690-4

PMCID:: PMC6212533

Abstract Article PDF–1.8M

Select item 61329396.

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Elvis Terci Valera, Melissa K. McConechy, Tenzin Gayden, Barbara Rivera, David T. W. Jones, Andrea Wittmann, HyeRim Han, Eric Bareke, Hamid Nikbakht, Leonie Mikael, Rosane Gomes Queiroz, Veridiana Kiill Suazo, Ji Hoon Phi, Seung-Ki Kim, Sung-Hye Park, Raita Fukaya, Mi-Sun Yum, Tae-Sung Ko, Ricardo Santos de Oliveira, Helio Rubens Machado, María Sol Brassesco, Antonio Carlos do Santos, Gustavo Novelino Simão, Leandra Náira Zambelli Ramalho, Luciano Neder, Carlos Alberto Scrideli, Luiz Gonzaga Tone, Jacek Majewski, Nada Jabado

Acta Neuropathol. 2018; 136(4): 657–660. Published online 2018 Aug 24. doi: 10.1007/s00401-018-1898-8

PMCID:: PMC6132939

Article PDF–982K

Select item 48000517.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana Jensen, Sarah Collins, Malgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine M. Christensen, Stephen R. Braddock, Heather Brandling-Bennett, Raoul C.M. Hennekam, Brian Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Jacek Majewski, Les G. Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

Am J Hum Genet. 2016 Mar 3; 98(3): 579–587. Published online 2016 Mar 3. doi: 10.1016/j.ajhg.2016.02.006

PMCID:: PMC4800051

Abstract Article PDF–941K

Select item 44335018.

Genomic aberrations in the FGFR pathway: opportunities for targeted therapies in solid tumors

R. Dienstmann, J. Rodon, A. Prat, J. Perez-Garcia, B. Adamo, E. Felip, J. Cortes, A. J. Iafrate, P. Nuciforo, J. Tabernero

Ann Oncol. 2014 Mar; 25(3): 552–563. Published online 2013 Nov 20. doi: 10.1093/annonc/mdt419

PMCID:: PMC4433501

Abstract Article PDF–295K

Select item 39513369.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

David T.W. Jones, Barbara Hutter, Natalie Jäger, Andrey Korshunov, Marcel Kool, Hans-Jörg Warnatz, Thomas Zichner, Sally R. Lambert, Marina Ryzhova, Dong Anh Khuong Quang, Adam M. Fontebasso, Adrian M. Stütz, Sonja Hutter, Marc Zuckermann, Dominik Sturm, Jan Gronych, Bärbel Lasitschka, Sabine Schmidt, Huriye Seker-Cin, Hendrik Witt, Marc Sultan, Meryem Ralser, Paul A. Northcott, Volker Hovestadt, Sebastian Bender, Elke Pfaff, Sebastian Stark, Damien Faury, Jeremy Schwartzentruber, Jacek Majewski, Ursula D. Weber, Marc Zapatka, Benjamin Raeder, Matthias Schlesner, Catherine L. Worth, Cynthia C. Bartholomae, Christof von Kalle, Charles D. Imbusch, Sylwester Radomski, Chris Lawerenz, Peter van Sluis, Jan Koster, Richard Volckmann, Rogier Versteeg, Hans Lehrach, Camelia Monoranu, Beate Winkler, Andreas Unterberg, Christel Herold-Mende, Till Milde, Andreas E. Kulozik, Martin Ebinger, Martin U. Schuhmann, Yoon-Jae Cho, Scott L. Pomeroy, Andreas von Deimling, Olaf Witt, Michael D. Taylor, Stephan Wolf, Matthias A. Karajannis, Charles G. Eberhart, Wolfram Scheurlen, Martin Hasselblatt, Keith L. Ligon, Mark W. Kieran, Jan O. Korbel, Marie-Laure Yaspo, Benedikt Brors, Jörg Felsberg, Guido Reifenberger, V. Peter Collins, Nada Jabado, Roland Eils, Peter Lichter, Stefan M. Pfister

Nat Genet. Author manuscript; available in PMC 2014 Mar 12.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 927–932. Published online 2013 Jun 30. doi: 10.1038/ng.2682

PMCID:: PMC3951336

Abstract Article PDF–1.0M

Select item 357051510.

Mosaic RASopathies

Christian Hafner, Leopold Groesser

Cell Cycle. 2013 Jan 1; 12(1): 43–50. doi: 10.4161/cc.23108

PMCID:: PMC3570515

Abstract Article PDF–641K

Select item 289663211.

Clinical Relevance of KRAS in Human Cancers

Sylwia Jančík, Jiří Drábek, Danuta Radzioch, Marián Hajdúch

J Biomed Biotechnol. 2010; 2010: 150960. Published online 2010 Jun 7. doi: 10.1155/2010/150960

PMCID:: PMC2896632

Abstract Article PDF–1.5M

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