Publications by authors named "Egbert Bakker"

57Publications

Development of a comprehensive noninvasive prenatal test.

Authors:
Carolina Malcher Guilherme L Yamamoto Philip Burnham Suzana A M Ezquina Naila C V Lourenço Sahilla Balkassmi David S Marco Antonio Gabriella S P Hsia Thomaz Gollop Rita C Pavanello Marco Antonio Lopes Egbert Bakker Mayana Zatz Débora Bertola Iwijn De Vlaminck Maria Rita Passos-Bueno

Genet Mol Biol 2018 Jul/Sept.;41(3):545-554. Epub 2018 Jul 16.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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July 2018

Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions.

Authors:
Katherine Payne Martin Eden Niall Davison Egbert Bakker

Per Med 2017 05 5;14(3):235-247. Epub 2017 May 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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May 2017

A novel keratin 13 variant in a four-generation family with white sponge nevus.

Authors:
Stephanie B de Haseth Egbert Bakker Maarten H Vermeer Hakima El Idrissi Tjalling Bosse Vincent T H B M Smit Anna Terron-Kwiatkowski W H Irwin McLean Alexander A W Peters Frederik J Hes

Clin Case Rep 2017 09 29;5(9):1503-1509. Epub 2017 Jul 29.

Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands.

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September 2017

Critical points for an accurate human genome analysis.

Authors:
Stefan J White Jeroen F J Laros Egbert Bakker Anne Cambon-Thomsen Martin Eden Samantha Leonard Hanns Lochmüller Gert Matthijs Christopher Mattocks Simon Patton Katherine Payne Hans Scheffer Erica Souche Ellen Thomassen Rachel Thompson Jan Traeger-Synodinos Steven Van Vooren Bart Janssen Johan T den Dunnen

Hum Mutat 2017 08 16;38(8):912-921. Epub 2017 Jun 16.

Department of Human Genetics, Leiden University Medical Center, The Netherlands.

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August 2017

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Authors:
Thomas Liehr Isabel M Carreira Dilek Aktas Egbert Bakker Marta Rodríguez de Alba Domenico A Coviello Lina Florentin Hans Scheffer Martina Rincic

Eur J Hum Genet 2017 05 8;25(5):515-519. Epub 2017 Mar 8.

Croatian Institute of Brain Research, Zagreb, Croatia.

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May 2017

Guidelines for diagnostic next-generation sequencing.

Authors:
Gert Matthijs Erika Souche Mariëlle Alders Anniek Corveleyn Sebastian Eck Ilse Feenstra Valérie Race Erik Sistermans Marc Sturm Marjan Weiss Helger Yntema Egbert Bakker Hans Scheffer Peter Bauer

Eur J Hum Genet 2016 10;24(10):1515

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October 2016

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.

Authors:
Sabine E Hannema Jan M Wit Mieke E C A M Houdijk Arie van Haeringen Elsa C Bik Annemieke J M H Verkerk André G Uitterlinden Sarina G Kant Wilma Oostdijk Egbert Bakker Henriette A Delemarre-van de Waal Monique Losekoot

Horm Res Paediatr 2016 1;85(6):412-20. Epub 2016 Mar 1.

Department of Paediatrics, Willem Alexander Children's Hospital, Leiden, The Netherlands.

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April 2017

Guidelines for diagnostic next-generation sequencing.

Authors:
Gert Matthijs Erika Souche Mariëlle Alders Anniek Corveleyn Sebastian Eck Ilse Feenstra Valérie Race Erik Sistermans Marc Sturm Marjan Weiss Helger Yntema Egbert Bakker Hans Scheffer Peter Bauer

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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January 2016

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.

Authors:
Jessica M E van den Oever Ivonne J H M van Minderhout Cornelis L Harteveld Nicolette S den Hollander Egbert Bakker Nienke van der Stoep Elles M J Boon

J Mol Diagn 2015 Sep 7;17(5):590-6. Epub 2015 Jul 7.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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September 2015

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

Authors:
Jessica M E van den Oever Emilia K Bijlsma Ilse Feenstra Nienke Muntjewerff Inge B Mathijssen Egbert Bakker Martine J van Belzen Elles M J Boon

Prenat Diagn 2015 Oct 5;35(10):945-9. Epub 2015 Apr 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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October 2015

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Authors:
Suha M Hassan Cornelis L Harteveld Egbert Bakker Piero C Giordano

Hemoglobin 2015 13;39(2):107-10. Epub 2015 Feb 13.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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January 2016

Molecular spectrum of α-globin gene defects in the Omani population.

Authors:
Suha M Hassan Cornelis L Harteveld Egbert Bakker Piero C Giordano

Hemoglobin 2014 5;38(6):422-6. Epub 2014 Nov 5.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.

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July 2015

Copy number variants in short children born small for gestational age.

Authors:
Jan M Wit Hermine A van Duyvenvoorde Jan B van Klinken Janina Caliebe Cathy A J Bosch Julian C Lui Antoinet C J Gijsbers Egbert Bakker Martijn H Breuning Wilma Oostdijk Monique Losekoot Jeffrey Baron Gerhard Binder Michael B Ranke Claudia A L Ruivenkamp

Horm Res Paediatr 2014 8;82(5):310-8. Epub 2014 Oct 8.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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July 2015

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Authors:
Johanna C W Deenen Hisse Arnts Silvère M van der Maarel George W Padberg Jan J G M Verschuuren Egbert Bakker Stephanie S Weinreich André L M Verbeek Baziel G M van Engelen

Neurology 2014 Sep 13;83(12):1056-9. Epub 2014 Aug 13.

From the Department of Neurology (J.C.W.D., H.A., G.W.P., B.G.M.v.E.) and Department for Health Evidence (A.L.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics (S.M.v.d.M.), Department of Neurology (J.J.G.M.V.), and Department of Clinical Genetics (E.B.), Leiden University Medical Center, Leiden, the Netherlands; and VU University Medical Center (S.S.W.), Amsterdam, the Netherlands.

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September 2014

Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.

Authors:
Suha M Hassan Cornelis L Harteveld Egbert Bakker Piero C Giordano

Hemoglobin 2014 2;38(4):299-302. Epub 2014 Jul 2.

Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman .

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March 2015

Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies.

Authors:
Piero C Giordano Cornelis L Harteveld Egbert Bakker

Int J Environ Res Public Health 2014 Jun 11;11(6):6136-46. Epub 2014 Jun 11.

Human and Clinical Genetics Department, Leiden University Medical Center, P.O. Box 9600, Leiden 2333 ZC, The Netherlands.

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June 2014

Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.

Authors:
Jessica M E van den Oever Sahila Balkassmi Tim Segboer E Joanne Verweij Pieter A van der Velden Dick Oepkes Egbert Bakker Elles M J Boon

PLoS One 2013 31;8(12):e84051. Epub 2013 Dec 31.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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September 2014

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Authors:
Sabrina Sacconi Richard J L F Lemmers Judit Balog Patrick J van der Vliet Pauline Lahaut Merlijn P van Nieuwenhuizen Kirsten R Straasheijm Rashmie D Debipersad Marianne Vos-Versteeg Leonardo Salviati Alberto Casarin Elena Pegoraro Rabi Tawil Egbert Bakker Stephen J Tapscott Claude Desnuelle Silvère M van der Maarel

Am J Hum Genet 2013 Oct 26;93(4):744-51. Epub 2013 Sep 26.

Neuromuscular Diseases Centre, University Hospital of Nice, 06000 Nice, France; CNRS UMR7277, IBV, Faculty of Medicine, University of Nice, 06108 Nice, France. Electronic address:

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October 2013

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.

Authors:
Sarina G Kant Sander J Broekman Caroline C de Wit Marloes Bos Sitha A Scheltinga Egbert Bakker Wilma Oostdijk Hetty J van der Kamp Erik W van Zwet Annemieke H van der Hout Jan M Wit Monique Losekoot

PeerJ 2013 19;1:e35. Epub 2013 Feb 19.

CHCG-Department of Clinical Genetics, Leiden University Medical Center , Leiden , The Netherlands.

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May 2013

Successful noninvasive trisomy 18 detection using single molecule sequencing.

Authors:
Jessica M E van den Oever Sahila Balkassmi Lennart F Johansson Phebe N Adama van Scheltema Ron F Suijkerbuijk Mariëtte J V Hoffer Richard J Sinke Egbert Bakker Birgit Sikkema-Raddatz Elles M J Boon

Clin Chem 2013 Apr 11;59(4):705-9. Epub 2013 Jan 11.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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April 2013

Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.

Authors:
Antoon H van Lierop Neveen A T Hamdy Martje E van Egmond Egbert Bakker Freek G Dikkers Socrates E Papapoulos

J Bone Miner Res 2013 Apr;28(4):848-54

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands.

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April 2013

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.

Authors:
Apollonia T J M Helderman-van den Enden Kamlesh Madan Martijn H Breuning Annemieke H van der Hout Egbert Bakker Christine E M de Die-Smulders Hendrika B Ginjaar

Eur J Hum Genet 2013 Jan 6;21(1):21-6. Epub 2012 Jun 6.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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January 2013

Candidate gene-based association study of antipsychotic-induced movement disorders in long-stay psychiatric patients: a prospective study.

Authors:
P Roberto Bakker Egbert Bakker Najaf Amin Cornelia M van Duijn Jim van Os Peter N van Harten

PLoS One 2012 15;7(5):e36561. Epub 2012 May 15.

Psychiatric Centre GGZ Centraal, Amersfoort, The Netherlands.

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September 2012

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

Authors:
Marion Phylipsen Supawadee Yamsri Emmely E Treffers Diahann T S L Jansen Warsha A Kanhai Elles M J Boon Piero C Giordano Supan Fucharoen Egbert Bakker Cornelis L Harteveld

Prenat Diagn 2012 Jun 20;32(6):578-87. Epub 2012 Apr 20.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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June 2012

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

Authors:
Ros Hastings Guido de Wert Brian Fowler Michael Krawczak Eric Vermeulen Egbert Bakker Pascal Borry Wybo Dondorp Niels Nijsingh David Barton Jörg Schmidtke Carla G van El Joris Vermeesch Yrrah Stol Heidi Carmen Howard Martina C Cornel

Eur J Hum Genet 2012 Sep 28;20(9):911-6. Epub 2012 Mar 28.

CEQA and UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.

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September 2012

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

Authors:
Jessica M E van den Oever Sahila Balkassmi E Joanne Verweij Maarten van Iterson Phebe N Adama van Scheltema Dick Oepkes Jan M M van Lith Mariëtte J V Hoffer Johan T den Dunnen Egbert Bakker Elles M J Boon

Clin Chem 2012 Apr 25;58(4):699-706. Epub 2012 Jan 25.

Center for Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, the Netherlands.

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April 2012

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Authors:
Marion Phylipsen Attawut Chaibunruang Ingrid P Vogelaar Jeetindra R A Balak Rianne A C Schaap Yavuz Ariyurek Supan Fucharoen Johan T den Dunnen Piero C Giordano Egbert Bakker Cornelis L Harteveld

Hum Mutat 2012 Jan 31;33(1):272-80. Epub 2011 Oct 31.

Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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January 2012

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Authors:
Antoinet C J Gijsbers Johannes G Dauwerse Cathy A J Bosch Elles M J Boon Wilco van den Ende Sarina G Kant Kerstin M B Hansson Martijn H Breuning Egbert Bakker Claudia A L Ruivenkamp

Eur J Med Genet 2011 Jul-Aug;54(4):e409-12. Epub 2011 May 23.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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October 2011

Experiences with array-based sequence capture; toward clinical applications.

Authors:
Rowida Almomani Jaap van der Heijden Yavuz Ariyurek Yuching Lai Egbert Bakker Michiel van Galen Martijn H Breuning Johan T den Dunnen

Eur J Hum Genet 2011 Jan 24;19(1):50-5. Epub 2010 Nov 24.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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January 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

Authors:
Sarina G Kant Hetty J van der Kamp Marjolein Kriek Egbert Bakker Boudewijn Bakker Mariette J V Hoffer Patrick van Bunderen Monique Losekoot Saskia M Maas Jan M Wit Gudrun Rappold Martijn H Breuning

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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February 2011

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

Authors:
Christianne M A Reijnders Cathelijn J F Waaijer Andrew Hamilton Emilie P Buddingh Sander P D Dijkstra John Ham Egbert Bakker Karoly Szuhai Marcel Karperien Pancras C W Hogendoorn Sally E Stringer Judith V M G Bovée

Am J Pathol 2010 Oct 2;177(4):1946-57. Epub 2010 Sep 2.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

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October 2010

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Authors:
Emmelien Aten Lisa C Brasz Dorothea Bornholdt Ingeborg B Hooijkaas Mary E Porteous Virginia P Sybert Maarten H Vermeer Rolf H A M Vossen Michiel J R van der Wielen Egbert Bakker Martijn H Breuning Karl-Heinz Grzeschik Jan C Oosterwijk Johan T den Dunnen

Hum Mutat 2010 Oct;31(10):1125-33

Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Nederlands.

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October 2010

Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia.

Authors:
Erik H Niks Jan B M Kuks John H J Wokke Henk Veldman Egbert Bakker Jan J G M Verschuuren Jaap J Plomp

Muscle Nerve 2010 Aug;42(2):283-8

Department of Neurology, Leiden University Medical Center, K5Q-114, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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August 2010

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Authors:
Antoinet C J Gijsbers Cathy A J Bosch Johannes G Dauwerse Osdilly Giromus Kerstin Hansson Yvonne Hilhorst-Hofstee Marjolein Kriek Arie van Haeringen Emilia K Bijlsma Egbert Bakker Martijn H Breuning Claudia A L Ruivenkamp

Eur J Med Genet 2010 Sep-Oct;53(5):227-33. Epub 2010 Jun 11.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.

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January 2011

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.

Authors:
Stephen Abbs Sylvie Tuffery-Giraud Egbert Bakker Alessandra Ferlini Thomas Sejersen Clemens R Mueller

Neuromuscul Disord 2010 Jun 13;20(6):422-7. Epub 2010 May 13.

GSTS Pathology, Guy's Hospital, London SE1 9RT, UK.

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June 2010

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.

Authors:
Frederik J Hes Kamlesh Madan I Shan Rombout-Liem Karoly Szuhai Helena Sørensen Hans Kristian Ploos van Amstel Egbert Bakker Theo J Visser Johannes W Smit Kerstin Hansson

Am J Med Genet A 2009 Oct;149A(10):2231-5

Center for Clinical and Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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October 2009

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:
Antoinet C J Gijsbers Janet Y K Lew Cathy A J Bosch Janneke H M Schuurs-Hoeijmakers Arie van Haeringen Nicolette S den Hollander Sarina G Kant Emilia K Bijlsma Martijn H Breuning Egbert Bakker Claudia A L Ruivenkamp

Eur J Hum Genet 2009 Nov 13;17(11):1394-402. Epub 2009 May 13.

Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.

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November 2009

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

Authors:
Rowida Almomani Nienke van der Stoep Egbert Bakker Johan T den Dunnen Martijn H Breuning Ieke B Ginjaar

Neuromuscul Disord 2009 Jun 5;19(6):383-90. Epub 2009 May 5.

Center for Human and Clinical Genetics, LUMC, Einthovenweg 20, Leiden, The Netherlands.

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June 2009

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

Authors:
Nienke van der Stoep Chantal D M van Paridon Tom Janssens Petra Krenkova Alexandra Stambergova Milan Macek Gert Matthijs Egbert Bakker

Hum Mutat 2009 Jun;30(6):899-909

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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June 2009

Identification of copy number variants associated with BPES-like phenotypes.

Authors:
Antoinet C J Gijsbers Barbara D'haene Yvonne Hilhorst-Hofstee Marcel Mannens Beate Albrecht Joerg Seidel David R Witt Melissa K Maisenbacher Bart Loeys Ton van Essen Egbert Bakker Raoul Hennekam Martijn H Breuning Elfride De Baere Claudia A L Ruivenkamp

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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December 2008

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Authors:
Maaike P G Vreeswijk Jaennelle N Kraan Heleen M van der Klift Geraldine R Vink Cees J Cornelisse Juul T Wijnen Egbert Bakker Christi J van Asperen Peter Devilee

Hum Mutat 2009 Jan;30(1):107-14

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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January 2009

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

Authors:
Marielle E van Gijn Stéphan Soler Claire de la Chapelle Marcel Mulder Cécile Ritorre Marjolein Kriek Laurent Philibert Michiel van der Wielen Joost Frenkel Sylvie Grandemange Egbert Bakker Johannes K Ploos van Amstel Isabelle Touitou

Eur J Hum Genet 2008 Nov 23;16(11):1404-6. Epub 2008 Jul 23.

DBG Department of Medical Genetics, UMC Utrecht, The Netherlands.

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November 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Authors:
Antoinet C J Gijsbers Emilia K Bijlsma Marjan M Weiss Egbert Bakker Martijn H Breuning Mariëtte J V Hoffer Claudia A L Ruivenkamp

Eur J Med Genet 2008 Sep-Oct;51(5):479-87. Epub 2008 May 3.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, Postzone S-6-P, 2333 CZ Leiden, The Netherlands.

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November 2008

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Authors:
Dorine W Swinkels Hanka Venselaar Erwin T Wiegerinck Egbert Bakker Irma Joosten Christian A J J Jaspers Wies L Vasmel Martijn H Breuning

Blood Cells Mol Dis 2008 May-Jun;40(3):334-8. Epub 2007 Nov 26.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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August 2008

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Authors:
Maartje Nielsen Elsa Bik Frederik J Hes Martijn H Breuning Hans F A Vasen Egbert Bakker Carli M J Tops Marjan M Weiss

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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October 2007

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Authors:
Johannes G Dauwerse Bert B A de Vries Cokkie H Wouters Egbert Bakker Gudrun Rappold Geert R Mortier Martijn H Breuning Dorien J M Peters

Eur J Hum Genet 2007 Jul 18;15(7):743-51. Epub 2007 Apr 18.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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July 2007

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Authors:
Mark B Consugar Vickie J Kubly Donna J Lager Cynthia J Hommerding Wai Chong Wong Egbert Bakker Vincent H Gattone Vicente E Torres Martijn H Breuning Peter C Harris

Hum Genet 2007 Jun 22;121(5):591-9. Epub 2007 Mar 22.

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

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June 2007

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Authors:
Jeroen Knijnenburg Arie van Haeringen Kerstin B M Hansson Arjan Lankester Margot J M Smit René D M Belfroid Egbert Bakker Carla Rosenberg Hans J Tanke Károly Szuhai

Eur J Hum Genet 2007 May 7;15(5):548-55. Epub 2007 Mar 7.

Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands.

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May 2007

Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis.

Authors:
A Yaël Nossent Jeroen C J Eikenboom Hans L Vos Egbert Bakker Bea C Tanis Carine J M Doggen Rogier M Bertina Frits R Rosendaal

Thromb Haemost 2006 Jun;95(6):942-8

Department of Haematology, C2-R, Leiden University Medical Center, P. O. Box 9600, 2300 RC Leiden, The Netherlands.

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June 2006

Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed.

Authors:
Egbert Bakker

Clin Chem 2006 Apr;52(4):557-8

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April 2006

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.

Authors:
Edo M Hoogerwaard Ieke B Ginjaar Egbert Bakker Marianne de Visser

Neurology 2005 Dec;65(12):1984-6

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

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December 2005

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.

Authors:
Geraldine R Vink Christi J van Asperen Peter Devilee Martijn H Breuning Egbert Bakker

Eur J Hum Genet 2005 May;13(5):525-7

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May 2005

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Authors:
Geraldine R Vink Stefan J White Strelicija Gabelic Pancras C W Hogendoorn Martijn H Breuning Egbert Bakker

Eur J Hum Genet 2005 Apr;13(4):470-4

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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April 2005

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

Authors:
Majid Yavarian Mehran Karimi Egbert Bakker Cornelis L Harteveld Piero C Giordano

Haematologica 2004 Oct;89(10):1172-8

Thalassemia Medical Center, Medical Faculty, Bandar Abbas University, Iran.

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October 2004

Somatic mosaicism in FSHD often goes undetected.

Authors:
Richard J L F Lemmers Michiel J R van der Wielen Egbert Bakker George W Padberg Rune R Frants Silvère M van der Maarel

Ann Neurol 2004 Jun;55(6):845-50

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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June 2004

Duchenne and Becker muscular dystrophy.

Authors:
Alexander L J Kneppers Ieke B Ginjaar Egbert Bakker

Methods Mol Med 2004 ;92:311-41

Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

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April 2004

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Authors:
Robert M W Hofstra Inge M Mulder Rolf Vossen Pia A M de Koning-Gans Marian Kraak Ieke B Ginjaar Annemarie H van der Hout Egbert Bakker Charles H C M Buys Gert-Jan B van Ommen Anthonie J van Essen Johan T den Dunnen

Hum Mutat 2004 Jan;23(1):57-66

Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.

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January 2004