Kornelia Neveling

Kornelia Neveling

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Kornelia Neveling

Kornelia Neveling

Publications by authors named "Kornelia Neveling"

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52Publications

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FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Mol Syndromol 2016 Jul 18;7(3):144-52. Epub 2016 Jun 18.

Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.

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http://dx.doi.org/10.1159/000446884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988258PMC
July 2016

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

J Allergy Clin Immunol 2015 Feb 16;135(2):561-4. Epub 2014 Sep 16.

Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jaci.2014.07.050DOI Listing
February 2015

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2013 Dec 29;120(12):2697-2705. Epub 2013 Sep 29.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.07.052DOI Listing
December 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

Identification and analysis of inherited retinal disease genes.

Methods Mol Biol 2013 ;935:3-23

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-62703-080-9_1DOI Listing
April 2013

Ultra-deep pyrosequencing of pmoA amplicons confirms the prevalence of Methylomonas and Methylocystis in Sphagnum mosses from a Dutch peat bog.

Environ Microbiol Rep 2011 Dec 9;3(6):667-73. Epub 2011 May 9.

Radboud University Nijmegen, Institute for Water and Wetland Research (IWWR), Department of Microbiology, Heyendaalseweg 135, 6525 AJ Nijmegen, the Netherlands. Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 28, 6525 GA, Nijmegen, the Netherlands. Department of Bioresources, AIT, Austrian Institute of Technology GmbH, 2444 Seibersdorf, Austria. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.

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http://dx.doi.org/10.1111/j.1758-2229.2011.00260.xDOI Listing
December 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

Genotype-phenotype correlations in Fanconi anemia.

Mutat Res 2009 Jul 21;668(1-2):73-91. Epub 2009 May 21.

Department of Human and Medical Genetics, University of Wurzburg, Biozentrum, Am Hubland, Wurzburg D-97074, Germany.

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http://dx.doi.org/10.1016/j.mrfmmm.2009.05.006DOI Listing
July 2009

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

Nat Struct Mol Biol 2007 Jun 25;14(6):564-7. Epub 2007 Apr 25.

Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1038/nsmb1252DOI Listing
June 2007

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability.

EMBO J 2007 Mar 15;26(5):1340-51. Epub 2007 Feb 15.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.emboj.7601574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1817623PMC
March 2007

Fanconi anaemia - response to Manoharan.

Br J Haematol 2006 Oct 22;135(1):139-40. Epub 2006 Aug 22.

Department of Paediatric Oncology, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1111/j.1365-2141.2006.06263.xDOI Listing
October 2006

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

Eur J Pediatr 2006 Apr 13;165(4):250-7. Epub 2006 Jan 13.

Department of Human Genetics, University of Würzburg, Biozentrum am Hubland, 97074, Würzburg, Germany.

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http://link.springer.com/10.1007/s00431-005-0037-4
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http://dx.doi.org/10.1007/s00431-005-0037-4DOI Listing
April 2006

Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm.

Br J Haematol 2006 Apr;133(2):188-97

Department of Paediatric Oncology, Haematology and Immunology, Children's Hospital UKD, Heinrich Heine University, Moorenstrasse 5, 40225 Duesseldorf, Germany.

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http://dx.doi.org/10.1111/j.1365-2141.2006.05998.xDOI Listing
April 2006

Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study.

Fetal Diagn Ther 2006 ;21(1):118-24

Department of Human Genetics, University of Wurzburg School of Medicine, Wurzburg, Germany.

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http://dx.doi.org/10.1159/000089061DOI Listing
January 2006

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

Nat Genet 2005 Sep 21;37(9):931-3. Epub 2005 Aug 21.

Laboratory for Human Genetics & Hematology, The Rockefeller University, New York, New York, USA.

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http://dx.doi.org/10.1038/ng1624DOI Listing
September 2005