PMC Links for Books (Select 1498810) - PMC

Select item 97433601.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Kateryna Venger, Miriam Elbracht, Julia Carlens, Peter Deutz, Felix Zeppernick, Lisa Lassay, Christian Kratz, Martin Zenker, Jung Kim, Douglas R. Stewart, Ilse Wieland, Kris Ann P. Schultz, Nicolaus Schwerk, Ingo Kurth, Udo Kontny

Fam Cancer. 2023; 22(4): 475–480. Published online 2021 Jul 31. doi: 10.1007/s10689-021-00271-z

PMCID:: PMC9743360

Article PDF–735K

Select item 86218852.

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population

Kelly A. Duffy, Kelly D. Getz, Evan R. Hathaway, Mallory E. Byrne, Suzanne P. MacFarland, Jennifer M. Kalish

Genes (Basel) 2021 Nov; 12(11): 1839. Published online 2021 Nov 21. doi: 10.3390/genes12111839

PMCID:: PMC8621885

Article PDF–323K

Select item 84076053.

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Carol Durno, Ayse Bahar Ercan, Vanessa Bianchi, Melissa Edwards, Melyssa Aronson, Melissa Galati, Eshetu G. Atenafu, Gadi Abebe-Campino, Abeer Al-Battashi, Musa Alharbi, Vahid Fallah Azad, Hagit N. Baris, Donald Basel, Raymond Bedgood, Anne Bendel, Shay Ben-Shachar, Deborah T. Blumenthal, Maude Blundell, Miriam Bornhorst, Annika Bronsema, Elizabeth Cairney, Sara Rhode, Shani Caspi, Aghiad Chamdin, Stefano Chiaravalli, Shlomi Constantini, Bruce Crooks, Anirban Das, Rina Dvir, Roula Farah, William D. Foulkes, Zehavit Frenkel, Bailey Gallinger, Sharon Gardner, David Gass, Mithra Ghalibafian, Catherine Gilpin, Yael Goldberg, Catherine Goudie, Syed Ahmer Hamid, Heather Hampel, Jordan R. Hansford, Craig Harlos, Nobuko Hijiya, Saunders Hsu, Junne Kamihara, Rejin Kebudi, Jeffrey Knipstein, Carl Koschmann, Christian Kratz, Valerie Larouche, Alvaro Lassaletta, Scott Lindhorst, Simon C. Ling, Michael P. Link, Rebecca Loret De Mola, Rebecca Luiten, Michal Lurye, Jamie L. Maciaszek, Vanan MagimairajanIssai, Ossama M. Maher, Maura Massimino, Rose B. McGee, Naureen Mushtaq, Gary Mason, Monica Newmark, Garth Nicholas, Kim E. Nichols, Theodore Nicolaides, Enrico Opocher, Michael Osborn, Benjamin Oshrine, Rachel Pearlman, Daniel Pettee, Jan Rapp, Mohsin Rashid, Alyssa Reddy, Lara Reichman, Marc Remke, Gabriel Robbins, Sumita Roy, Magnus Sabel, David Samuel, Isabelle Scheers, Kami Wolfe Schneider, Santanu Sen, Duncan Stearns, David Sumerauer, Carol Swallow, Leslie Taylor, Gregory Thomas, Helen Toledano, Patrick Tomboc, An Van Damme, Ira Winer, Michal Yalon, Lee Yi Yen, Michal Zapotocky, Shayna Zelcer, David S. Ziegler, Stefanie Zimmermann, Cynthia Hawkins, David Malkin, Eric Bouffet, Anita Villani, Uri Tabori

J Clin Oncol. 2021 Sep 1; 39(25): 2779–2790. Published online 2021 May 4. doi: 10.1200/JCO.20.02636

PMCID:: PMC8407605

Article PDF–669K

Select item 84050564.

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

Steven D. Klein, Julian A. Martinez-Agosto

Microrna. Author manuscript; available in PMC 2021 Aug 30.

Published in final edited form as: Microrna. 2020; 9(1): 70–80. doi: 10.2174/2211536608666190624114424

PMCID:: PMC8405056

Article PDF–2.2M

Select item 82526305.

TRIM28 variants and Wilms' tumour predisposition

Janna A Hol, Illja J Diets, Ronald R de Krijger, Marry M van den Heuvel‐Eibrink, Marjolijn CJ Jongmans, Roland P Kuiper

J Pathol. 2021 Jul; 254(4): 494–504. Published online 2021 Mar 15. doi: 10.1002/path.5639

PMCID:: PMC8252630

Article PDF–14M

Select item 79199416.

New Approaches to Risk Stratification for Wilms Tumor

Marie V. Nelson, Marry M. van den Heuvel-Eibrink, Norbert Graf, Jeffrey S. Dome

Curr Opin Pediatr. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Curr Opin Pediatr. 2021 Feb 1; 33(1): 40–48. Published online 2020 Dec 29. doi: 10.1097/MOP.0000000000000988

PMCID:: PMC7919941

Article PDF–396K

Select item 72135877.

Activity of Vincristine and Irinotecan in Diffuse Anaplastic Wilms Tumor and Therapy Outcomes of Stage II to IV Disease: Results of the Children’s Oncology Group AREN0321 Study

Najat C. Daw, Yueh-Yun Chi, John A. Kalapurakal, Yeonil Kim, Fredric A. Hoffer, James I. Geller, Elizabeth J. Perlman, Peter F. Ehrlich, Elizabeth A. Mullen, Anne B. Warwick, Paul E. Grundy, Arnold C. Paulino, Eric Gratias, Deborah Ward, James R. Anderson, Geetika Khanna, Brett Tornwall, Conrad V. Fernandez, Jeffrey S. Dome, on behalf of the AREN0321 Study Committee

J Clin Oncol. 2020 May 10; 38(14): 1558–1568. Published online 2020 Mar 5. doi: 10.1200/JCO.19.01265

PMCID:: PMC7213587

Article PDF–853K

Select item 69143788.

Embryonal precursors of Wilms tumor

Tim HH Coorens, Taryn D Treger, Reem Al-Saadi, Luiza Moore, Maxine GB Tran, Thomas J Mitchell, Suzanne Tugnait, Christine Thevanesan, Matthew D Young, Thomas RW Oliver, Minou Oostveen, Grace Collord, Patrick S Tarpey, Alex Cagan, Yvette Hooks, Mark Brougham, Ben C Reynolds, Giuseppe Barone, John Anderson, Mette Jorgensen, GA Amos Burke, Johannes Visser, James C Nicholson, Naima Smeulders, Imran Mushtaq, Grant D Stewart, Peter J Campbell, David C Wedge, Iñigo Martincorena, Dyanne Rampling, Liz Hook, Anne Y Warren, Nicholas Coleman, Tanzina Chowdhury, Neil Sebire, Jarno Drost, Kourosh Saeb-Parsy, Michael R Stratton, Karin Straathof, Kathy Pritchard-Jones, Sam Behjati

Science. Author manuscript; available in PMC 2019 Dec 16.

Published in final edited form as: Science. 2019 Dec 6; 366(6470): 1247–1251. doi: 10.1126/science.aax1323

PMCID:: PMC6914378

Article PDF–1.0M

Select item 64722909.

Identification of new Wilms tumour predisposition genes: an exome sequencing study

Shazia Mahamdallie, Shawn Yost, Emma Poyastro-Pearson, Esty Holt, Anna Zachariou, Sheila Seal, Anna Elliott, Matthew Clarke, Margaret Warren-Perry, Sandra Hanks, John Anderson, Simon Bomken, Trevor Cole, Roula Farah, Rhoikos Furtwaengler, Adam Glaser, Richard Grundy, James Hayden, Steve Lowis, Frédéric Millot, James Nicholson, Milind Ronghe, Jane Skeen, Denise Williams, Daniel Yeomanson, Elise Ruark, Nazneen Rahman

Lancet Child Adolesc Health. 2019 May; 3(5): 322–331. doi: 10.1016/S2352-4642(19)30018-5

PMCID:: PMC6472290

Article PDF–1.1M

Select item 602284810.

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison C. Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Malgorzata Krajewska-Walasek, Christian P. Kratz, Edmund J. Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J. G. Mackay, Andrea Riccio, Eamonn R Maher

Nat Rev Endocrinol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Nat Rev Endocrinol. 2018 Apr; 14(4): 229–249. Published online 2018 Jan 29. doi: 10.1038/nrendo.2017.166

PMCID:: PMC6022848

Article PDF–971K

Select item 600545911.

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour

Benjamin J. Halliday, Ryuji Fukuzawa, David M. Markie, Richard G. Grundy, Jackie L. Ludgate, Michael A. Black, Jane E. Skeen, Robert J. Weeks, Daniel R. Catchpoole, Aedan G. K. Roberts, Anthony E. Reeve, Ian M. Morison

PLoS Genet. 2018 Jun; 14(6): e1007399. Published online 2018 Jun 18. doi: 10.1371/journal.pgen.1007399

PMCID:: PMC6005459

Article PDF–4.9M

Select item 571223212.

A Children's Oncology Group and TARGET Initiative Exploring the Genetic Landscape of Wilms Tumor

Samantha Gadd, Vicki Huff, Amy L. Walz, Ariadne H.A.G. Ooms, Amy E. Armstrong, Daniela S. Gerhard, Malcolm A. Smith, Jaime M. Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Leandro C. Hermida, Tanja Davidsen, Patee Gesuwan, Yussanne Ma, Zusheng Zong, Andrew J. Mungall, Richard A. Moore, Marco A. Marra, Jeffrey S. Dome, Charles G. Mullighan, Jing Ma, David A. Wheeler, Oliver A. Hampton, Nicole Ross, Julie M. Gastier-Foster, Stefan T. Arold, Elizabeth J. Perlman

Nat Genet. Author manuscript; available in PMC 2018 Feb 21.

Published in final edited form as: Nat Genet. 2017 Oct; 49(10): 1487–1494. Published online 2017 Aug 21. doi: 10.1038/ng.3940

PMCID:: PMC5712232

Article PDF–1.3M

Select item 555817013.

Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dmitiri J Stavropoulos, Raveen Basran, Leslie Steele, Nicole Parkinson, Ronald Grant, Paul Thorner, Armando Lorenzo, Rosanna Weksberg

Eur J Hum Genet. 2017 Sep; 25(9): 1031–1039. Published online 2017 Jul 12. doi: 10.1038/ejhg.2017.102

PMCID:: PMC5558170

Article PDF–3.7M

Select item 553879314.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Jennifer M. Kalish, Leslie Doros, Lee J. Helman, Raoul Hennekam, Roland P. Kuiper, Saskia M. Maas, Eamonn R. Maher, Kim E. Nichols, Sharon E. Plon, Christopher C. Porter, Surya Rednam, Kris Ann P. Schultz, Lisa J States, Gail E. Tomlinson, Kristin Zelley, Todd E. Druley

Clin Cancer Res. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Clin Cancer Res. 2017 Jul 1; 23(13): e115–e122. doi: 10.1158/1078-0432.CCR-17-0710

PMCID:: PMC5538793

Article PDF–341K

Select item 529009115.

Significance of TP53 Mutation in Wilms Tumors with Diffuse Anaplasia: A Report from the Children’s Oncology Group

Ariadne H.A.G. Ooms, Samantha Gadd, Daniela S. Gerhard, Malcolm A. Smith, Jaime M. Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Yussanne Ma, Zusheng Zong, Andrew J. Mungall, Richard A. Moore, Marco A. Marra, Vicki Huff, Jeffrey S. Dome, Yueh-Yun Chi, Jing Tian, James I. Geller, Charles G. Mullighan, Jing Ma, David A. Wheeler, Oliver A. Hampton, Amy L. Walz, Marry M. van den Heuvel-Eibrink, Ronald R. de Krijger, Nicole Ross, Julie M. Gastier-Foster, Elizabeth J. Perlman

Clin Cancer Res. Author manuscript; available in PMC 2017 Nov 15.

Published in final edited form as: Clin Cancer Res. 2016 Nov 15; 22(22): 5582–5591. Published online 2016 Oct 4. doi: 10.1158/1078-0432.CCR-16-0985

PMCID:: PMC5290091

Article PDF–1.0M

Select item 486690716.

Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumor using whole genome sequencing

Vicki Huff, Timothy Blake Palculict, E. Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong

J Med Genet. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: J Med Genet. 2016 Jun; 53(6): 385–388. Published online 2015 Nov 13. doi: 10.1136/jmedgenet-2015-103311

PMCID:: PMC4866907

Article PDF–431K

Select item 461230917.

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

Gaia Roversi, Chiara Picinelli, Ilaria Bestetti, Milena Crippa, Daniela Perotti, Sara Ciceri, Fabiana Saccheri, Paola Collini, Pietro L. Poliani, Serena Catania, Bernard Peissel, Fabio Pagni, Silvia Russo, Paolo Peterlongo, Siranoush Manoukian, Palma Finelli

Sci Rep. 2015; 5: 15454. Published online 2015 Oct 20. doi: 10.1038/srep15454

PMCID:: PMC4612309

Article PDF–643K

Select item 414391218.

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

Sandra Hanks, Elizabeth R. Perdeaux, Sheila Seal, Elise Ruark, Shazia S. Mahamdallie, Anne Murray, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Bianca de Souza, Margaret Warren-Perry, Anna Elliott, Alan Davidson, Helen Price, Charles Stiller, Kathy Pritchard-Jones, Nazneen Rahman

Nat Commun. 2014 Aug 7; 5: 4398. Published online 2014 Aug 7. doi: 10.1038/ncomms5398

PMCID:: PMC4143912

Article PDF–495K

Select item 208301619.

Surveillance for Wilms tumour in at‐risk children: pragmatic recommendations for best practice

R H Scott, L Walker, Ø E Olsen, G Levitt, I Kenney, E Maher, C M Owens, K Pritchard‐Jones, A Craft, N Rahman

Arch Dis Child. 2006 Dec; 91(12): 995–999. Published online 2006 Jul 20. doi: 10.1136/adc.2006.101295

PMCID:: PMC2083016

Article PDF–134K

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