Publications by authors named "Joanna Trubicka"

29Publications

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients.

Am J Surg Pathol 2017 Jun;41(6):781-787

*Department of Pathology §Clinic of Oncology, The Children's Memorial Health Institute †Department of Experimental and Clinical Pathology, Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw ‡Clinical Research Centre ∥Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Białystok, Poland.

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http://dx.doi.org/10.1097/PAS.0000000000000847DOI Listing
June 2017

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

Eur J Paediatr Neurol 2016 May 4;20(3):462-73. Epub 2016 Feb 4.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2016.01.007DOI Listing
May 2016

DNA and RNA analyses in detection of genetic predisposition to cancer.

Hered Cancer Clin Pract 2012 Dec 4;10(1):17. Epub 2012 Dec 4.

International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

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http://link.springer.com/content/pdf/10.1186%2F1897-4287-10-
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http://hccpjournal.biomedcentral.com/articles/10.1186/1897-4
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http://dx.doi.org/10.1186/1897-4287-10-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551642PMC
December 2012

[Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)].

Kardiol Pol 2011 ;69(11):1177-80

Klinika Kardiologii Wieku Dziecięcego i Pediatrii Ogólnej, Warszawski Uniwersytet Medyczny, Warszawa.

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April 2012

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.

Hum Mol Genet 2012 Jan 18;21(2):456-62. Epub 2011 Oct 18.

Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.

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http://dx.doi.org/10.1093/hmg/ddr479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276284PMC
January 2012

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

Authors:
James D McKay Therese Truong Valerie Gaborieau Amelie Chabrier Shu-Chun Chuang Graham Byrnes David Zaridze Oxana Shangina Neonila Szeszenia-Dabrowska Jolanta Lissowska Peter Rudnai Eleonora Fabianova Alexandru Bucur Vladimir Bencko Ivana Holcatova Vladimir Janout Lenka Foretova Pagona Lagiou Dimitrios Trichopoulos Simone Benhamou Christine Bouchardy Wolfgang Ahrens Franco Merletti Lorenzo Richiardi Renato Talamini Luigi Barzan Kristina Kjaerheim Gary J Macfarlane Tatiana V Macfarlane Lorenzo Simonato Cristina Canova Antonio Agudo Xavier Castellsagué Ray Lowry David I Conway Patricia A McKinney Claire M Healy Mary E Toner Ariana Znaor Maria Paula Curado Sergio Koifman Ana Menezes Victor Wünsch-Filho José Eluf Neto Leticia Fernández Garrote Stefania Boccia Gabriella Cadoni Dario Arzani Andrew F Olshan Mark C Weissler William K Funkhouser Jingchun Luo Jan Lubiński Joanna Trubicka Marcin Lener Dorota Oszutowska Stephen M Schwartz Chu Chen Sherianne Fish David R Doody Joshua E Muscat Philip Lazarus Carla J Gallagher Shen-Chih Chang Zuo-Feng Zhang Qingyi Wei Erich M Sturgis Li-E Wang Silvia Franceschi Rolando Herrero Karl T Kelsey Michael D McClean Carmen J Marsit Heather H Nelson Marjorie Romkes Shama Buch Tomoko Nukui Shilong Zhong Martin Lacko Johannes J Manni Wilbert H M Peters Rayjean J Hung John McLaughlin Lars Vatten Inger Njølstad Gary E Goodman John K Field Triantafillos Liloglou Paolo Vineis Francoise Clavel-Chapelon Domenico Palli Rosario Tumino Vittorio Krogh Salvatore Panico Carlos A González J Ramón Quirós Carmen Martínez Carmen Navarro Eva Ardanaz Nerea Larrañaga Kay-Tee Khaw Timothy Key H Bas Bueno-de-Mesquita Petra H M Peeters Antonia Trichopoulou Jakob Linseisen Heiner Boeing Göran Hallmans Kim Overvad Anne Tjønneland Merethe Kumle Elio Riboli Kristjan Välk Tõnu Vooder Tõnu Voodern Andres Metspalu Diana Zelenika Anne Boland Marc Delepine Mario Foglio Doris Lechner Hélène Blanché Ivo G Gut Pilar Galan Simon Heath Mia Hashibe Richard B Hayes Paolo Boffetta Mark Lathrop Paul Brennan

PLoS Genet 2011 Mar 17;7(3):e1001333. Epub 2011 Mar 17.

International Agency for Research on Cancer (IARC), Lyon, France.

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http://pure.au.dk/ws/files/36381633/A_Genome_Wide_Associatio
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http://dx.plos.org/10.1371/journal.pgen.1001333
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1001333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060072PMC
March 2011

A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers.

Cancer Epidemiol Biomarkers Prev 2011 Apr 18;20(4):658-64. Epub 2011 Feb 18.

International Agency for Research on Cancer (IARC), 150 Cours Albert Thomas, 69372 Lyon CEDEX 08, France.

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http://dx.doi.org/10.1158/1055-9965.EPI-10-1008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070066PMC
April 2011

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

Authors:
Mark P Purdue Mattias Johansson Diana Zelenika Jorge R Toro Ghislaine Scelo Lee E Moore Egor Prokhortchouk Xifeng Wu Lambertus A Kiemeney Valerie Gaborieau Kevin B Jacobs Wong-Ho Chow David Zaridze Vsevolod Matveev Jan Lubinski Joanna Trubicka Neonila Szeszenia-Dabrowska Jolanta Lissowska Péter Rudnai Eleonora Fabianova Alexandru Bucur Vladimir Bencko Lenka Foretova Vladimir Janout Paolo Boffetta Joanne S Colt Faith G Davis Kendra L Schwartz Rosamonde E Banks Peter J Selby Patricia Harnden Christine D Berg Ann W Hsing Robert L Grubb Heiner Boeing Paolo Vineis Françoise Clavel-Chapelon Domenico Palli Rosario Tumino Vittorio Krogh Salvatore Panico Eric J Duell José Ramón Quirós Maria-José Sanchez Carmen Navarro Eva Ardanaz Miren Dorronsoro Kay-Tee Khaw Naomi E Allen H Bas Bueno-de-Mesquita Petra H M Peeters Dimitrios Trichopoulos Jakob Linseisen Börje Ljungberg Kim Overvad Anne Tjønneland Isabelle Romieu Elio Riboli Anush Mukeria Oxana Shangina Victoria L Stevens Michael J Thun W Ryan Diver Susan M Gapstur Paul D Pharoah Douglas F Easton Demetrius Albanes Stephanie J Weinstein Jarmo Virtamo Lars Vatten Kristian Hveem Inger Njølstad Grethe S Tell Camilla Stoltenberg Rajiv Kumar Kvetoslava Koppova Olivier Cussenot Simone Benhamou Egbert Oosterwijk Sita H Vermeulen Katja K H Aben Saskia L van der Marel Yuanqing Ye Christopher G Wood Xia Pu Alexander M Mazur Eugenia S Boulygina Nikolai N Chekanov Mario Foglio Doris Lechner Ivo Gut Simon Heath Hélène Blanche Amy Hutchinson Gilles Thomas Zhaoming Wang Meredith Yeager Joseph F Fraumeni Konstantin G Skryabin James D McKay Nathaniel Rothman Stephen J Chanock Mark Lathrop Paul Brennan

Nat Genet 2011 Jan 5;43(1):60-5. Epub 2010 Dec 5.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ng.723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049257PMC
January 2011