Liesbeth Spruijt

Liesbeth Spruijt

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Liesbeth Spruijt

Liesbeth Spruijt

Publications by authors named "Liesbeth Spruijt"

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Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 10 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

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http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
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http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

J Clin Oncol 2015 Feb 15;33(4):319-25. Epub 2014 Dec 15.

Sanne W. ten Broeke, Carli M. Tops, Heleen M. van der Klift, Manon Suerink, Frederik J. Hes, Hans F. Vasen, Maartje Nielsen, and Juul T. Wijnen, Leiden University Medical Center; Hans F. Vasen, The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden; Richard M. Brohet, Research Center Linnaeus Institute, Spaarne Hospital, Hoofddorp; Mary E. Velthuizen and Tom G.W. Letteboer, University Medical Center Utrecht, Utrecht; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Fred H. Menko, Vrije Universiteit, University Medical Center; Theo A. van Os and Bert J.W. Redeker, Academic Medical Center, Amsterdam; Rolf H. Sijmons and Yvonne J. Vos, University of Groningen, University Medical Center Groningen, Groningen; Anja Wagner, Erasmus University Medical Center, Rotterdam, the Netherlands; Inge Bernstein, Aalborg University Hospital, Aalborg; Inge Bernstein, Danish Hereditary Nonpolyposis Colorectal Cancer Registry, Hvidovre University Hospital Copenhagen, Denmark; Gabriel Capellá Munar, Hereditary Cancer Program, Catalan Institute of Oncology-Institut D'Investigació Biomèdica de Bellvitge, l'Hospitalet de Llobregat, Spain; Annika Lindblom, Karolinska Institutet, Karolinska University Hospital, Solna; Pal Moller, Research Group Inherited Cancer, Oslo University Hospital, Oslo, Norway; and Nils Rahner, Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany.

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http://dx.doi.org/10.1200/JCO.2014.57.8088DOI Listing
February 2015

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Am J Med Genet A 2014 Aug 15;164A(8):1947-52. Epub 2014 Apr 15.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium; Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36580
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http://dx.doi.org/10.1002/ajmg.a.36580DOI Listing
August 2014

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling.

Fam Cancer 2014 Jun;13(2):143-51

Department of Human Genetics 836, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10689-013-9686-zDOI Listing
June 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes.

Fam Cancer 2013 Dec;12(4):675-82

Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10689-013-9644-9DOI Listing
December 2013

Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.

Int J Gynecol Cancer 2013 Oct;23(8):1406-10

Departments of *Obstetrics and Gynaecology, †Internal Medicine, ‡Human Genetics, and §Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/IGC.0b013e3182a1cf71DOI Listing
October 2013

Clinical phenotype of 5 females with a CDKL5 mutation.

J Child Neurol 2012 Jan 15;27(1):90-3. Epub 2011 Jul 15.

Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/0883073811413832DOI Listing
January 2012

Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.

J Clin Oncol 2010 Jun 17;28(18):3008-14. Epub 2010 May 17.

Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Division of Psychosocial Research and Epidemiology, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1200/JCO.2009.27.2112DOI Listing
June 2010

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

Biochim Biophys Acta 2010 Feb 15;1797(2):197-203. Epub 2009 Oct 15.

Department of Neurology, Erasmus MC Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2009.10.003DOI Listing
February 2010

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

Arch Neurol 2007 Jun;64(6):890-3

Department of Genetics and Cell Biology, University of Maastricht, PO Box 616, 6200 MD Maastricht, the Netherlands.

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http://dx.doi.org/10.1001/archneur.64.6.890DOI Listing
June 2007

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Am J Ophthalmol 2006 Apr;141(4):676-82

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ajo.2005.11.007DOI Listing
April 2006

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).

Am J Med Genet A 2005 Nov;139(1):45-7

Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30923DOI Listing
November 2005

Founder mutations among the Dutch.

Eur J Hum Genet 2004 Jul;12(7):591-600

Department of Epidemiology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201151DOI Listing
July 2004

VATER--tibia aplasia association: report on two patients.

Clin Dysmorphol 2002 Oct;11(4):283-7

Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1097/00019605-200210000-00010DOI Listing
October 2002

The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection.

Arch Otolaryngol Head Neck Surg 2002 Apr;128(4):355-62

The Mitochondrial and Metabolic Disease Center, University of California-San Diego School of Medicine, 200 W Arbor Dr, San Diego, CA 92103-8467.

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http://dx.doi.org/10.1001/archotol.128.4.355DOI Listing
April 2002