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Egbert Bakker

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Gijsbers Antoinet C J; Lew Janet Y K; Bosch Cathy A J; Schuurs-Hoeijmakers Janneke H M; van Haeringen Arie; den Hollander Nicolette S; Kant Sarina G; Bijlsma Emilia K; Breuning Martijn H; Bakker Egbert; Ruivenkamp Claudia A L
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Hes Frederik J; Madan Kamlesh; Rombout-Liem I Shan; Szuhai Karoly; Sørensen Helena; van Amstel Hans Kristian Ploos; Bakker Egbert; Visser Theo J; Smit Johannes W; Hansson Kerstin
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.
van Vliet P; Westendorp R G J; Eikelenboom P; Comijs H C; Frölich M; Bakker E; van der Flier W; van Exel E
Parental history of Alzheimer disease associated with lower plasma apolipoprotein E levels.

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All Publications

2009: Gijsbers Antoinet C J; Lew Janet Y K; Bosch Cathy A J; Schuurs-Hoeijmakers Janneke H M; van Haeringen Arie; den Hollander Nicolette S; Kant Sarina G; Bijlsma Emilia K; Breuning Martijn H; Bakker Egbert; Ruivenkamp Claudia A L
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
European journal of human genetics : EJHG 2009;17(11):1394-402.
2009: Hes Frederik J; Madan Kamlesh; Rombout-Liem I Shan; Szuhai Karoly; Sørensen Helena; van Amstel Hans Kristian Ploos; Bakker Egbert; Visser Theo J; Smit Johannes W; Hansson Kerstin
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.
American journal of medical genetics. Part A 2009;149A(10):2231-5.
2009: van Vliet P; Westendorp R G J; Eikelenboom P; Comijs H C; Frölich M; Bakker E; van der Flier W; van Exel E
Parental history of Alzheimer disease associated with lower plasma apolipoprotein E levels.
Neurology 2009;73(9):681-7.
2009: Almomani Rowida; van der Stoep Nienke; Bakker Egbert; den Dunnen Johan T; Breuning Martijn H; Ginjaar Ieke B
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Neuromuscular disorders : NMD 2009;19(6):383-90.
2009: van der Stoep Nienke; van Paridon Chantal D M; Janssens Tom; Krenkova Petra; Stambergova Alexandra; Macek Milan; Matthijs Gert; Bakker Egbert
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
Human mutation 2009;30(6):899-909.
2009: Helderman-van den Enden A T J M; de Jong R; den Dunnen J T; Houwing-Duistermaat J J; Kneppers A L J; Ginjaar H B; Breuning M H; Bakker E
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
Clinical genetics 2009;75(5):465-72.
2009: Vreeswijk Maaike P G; Kraan Jaennelle N; van der Klift Heleen M; Vink Geraldine R; Cornelisse Cees J; Wijnen Juul T; Bakker Egbert; van Asperen Christi J; Devilee Peter
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Human mutation 2009;30(1):107-14.
2008: Gijsbers Antoinet C J; D'haene Barbara; Hilhorst-Hofstee Yvonne; Mannens Marcel; Albrecht Beate; Seidel Joerg; Witt David R; Maisenbacher Melissa K; Loeys Bart; van Essen Ton; Bakker Egbert; Hennekam Raoul; Breuning Martijn H; De Baere Elfride; Ruivenkamp Claudia A L
Identification of copy number variants associated with BPES-like phenotypes.
Human genetics 2008;124(5):489-98.
2008: Gijsbers Antoinet C J; Bijlsma Emilia K; Weiss Marjan M; Bakker Egbert; Breuning Martijn H; Hoffer Mariëtte J V; Ruivenkamp Claudia A L
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
European journal of medical genetics 2008;51(5):479-87.
2008: Swinkels Dorine W; Venselaar Hanka; Wiegerinck Erwin T; Bakker Egbert; Joosten Irma; Jaspers Christian A J J; Vasmel Wies L; Breuning Martijn H
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.
Blood cells, molecules & diseases 2008;40(3):334-8.
2008: Hes F J; Nielsen M; Bik E C; Konvalinka D; Wijnen J T; Bakker E; Vasen H F A; Breuning M H; Tops C M J
Somatic APC mosaicism: an underestimated cause of polyposis coli.
Gut 2008;57(1):71-6.
2007: Nielsen Maartje; Bik Elsa; Hes Frederik J; Breuning Martijn H; Vasen Hans F A; Bakker Egbert; Tops Carli M J; Weiss Marjan M
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
European journal of human genetics : EJHG 2007;15(10):1034-42.
2007: Dauwerse Johannes G; de Vries Bert B A; Wouters Cokkie H; Bakker Egbert; Rappold Gudrun; Mortier Geert R; Breuning Martijn H; Peters Dorien J M
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.
European journal of human genetics : EJHG 2007;15(7):743-51.
2007: van der Kooi A J; Frankhuizen W S; Barth P G; Howeler C J; Padberg G W; Spaans F; Wintzen A R; Wokke J H J; van Ommen G-J B; de Visser M; Bakker E; Ginjaar H B
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
Neurology 2007;68(24):2125-8.
2007: Knijnenburg Jeroen; van Haeringen Arie; Hansson Kerstin B M; Lankester Arjan; Smit Margot J M; Belfroid René D M; Bakker Egbert; Rosenberg Carla; Tanke Hans J; Szuhai Károly
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
European journal of human genetics : EJHG 2007;15(5):548-55.
2007: Hoffer M J V; Hilhorst-Hofstee Y; Knijnenburg J; Hansson K-B; Engelberts A C; Laan L A E M; Bakker E; Rosenberg C
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
European journal of medical genetics 2007;50(2):149-54.
2006: Lemmers R J L F; van der Wielen M J R; Bakker E; Frants R R; van der Maarel S M
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(9-10):615-7; author reply 617-8.
2006: Nossent A Yaël; Eikenboom Jeroen C J; Vos Hans L; Bakker Egbert; Tanis Bea C; Doggen Carine J M; Bertina Rogier M; Rosendaal Frits R
Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis.
Thrombosis and haemostasis 2006;95(6):942-8.
2006: Rosenberg C; Knijnenburg J; Bakker E; Vianna-Morgante A M; Sloos W; Otto P A; Kriek M; Hansson K; Krepischi-Santos A C V; Fiegler H; Carter N P; Bijlsma E K; van Haeringen A; Szuhai K; Tanke H J
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
Journal of medical genetics 2006;43(2):180-6.
2005: Hoogerwaard Edo M; Ginjaar Ieke B; Bakker Egbert; de Visser Marianne
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
Neurology 2005;65(12):1984-6.
2005: Vink Geraldine R; van Asperen Christi J; Devilee Peter; Breuning Martijn H; Bakker Egbert
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.
European journal of human genetics : EJHG 2005;13(5):525-7.
2005: Vink Geraldine R; White Stefan J; Gabelic Strelicija; Hogendoorn Pancras C W; Breuning Martijn H; Bakker Egbert
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.
European journal of human genetics : EJHG 2005;13(4):470-4.
2004: Lemmers Richard J L F; van der Wielen Michiel J R; Bakker Egbert; Padberg George W; Frants Rune R; van der Maarel Silvère M
Somatic mosaicism in FSHD often goes undetected.
Annals of neurology 2004;55(6):845-50.
2004: Oldenburg R A; de Vos tot Nederveen Cappel W H; van Puijenbroek M; van den Ouweland A; Bakker E; Griffioen G; Devilee P; Cornelisse C J; Meijers-Heijboer H; Vasen H F A; Morreau H
Extending the p16-Leiden tumour spectrum by respiratory tract tumours.
Journal of medical genetics 2004;41(3):e31.
2004: van Asperen Christi J; Jonker M A; Jacobi C E; van Diemen-Homan J E M; Bakker E; Breuning M H; van Houwelingen J C; de Bock G H
Risk estimation for healthy women from breast cancer families: new insights and new strategies.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2004;13(1):87-93.
2004: Hofstra Robert M W; Mulder Inge M; Vossen Rolf; de Koning-Gans Pia A M; Kraak Marian; Ginjaar Ieke B; van der Hout Annemarie H; Bakker Egbert; Buys Charles H C M; van Ommen Gert-Jan B; van Essen Anthonie J; den Dunnen Johan T
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
2004: Konvalinka D; Bik E C; Tops C M; Bakker E; Singh A R; Vrtel R; Santavý J
[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis]
Casopís lékar?u c?eských 2004;143(8):543-6.
2004: Kneppers Alexander L J; Ginjaar Ieke B; Bakker Egbert
Duchenne and Becker muscular dystrophy.
Methods in molecular medicine 2004;92():311-41.
2003: Wohlgemuth M; Lemmers R J; van der Kooi E L; van der Wielen M J; van Overveld P G; Dauwerse H; Bakker E; Frants R R; Padberg G W; van der Maarel S M
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Neurology 2003;61(7):909-13.
2003: Helderman-van den Enden A T J M; Ginjaar H B; Kneppers A L J; Bakker E; Breuning M H; de Visser M
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.
Neuromuscular disorders : NMD 2003;13(4):317-21.
2002: Dauwerse J G; De Die-Smulders C E M; Bakker E; Breuning M H; Peters D J M
Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect.
Journal of medical genetics 2002;39(9):686-8.
2001: Lemmers RJL; de Kievit P; van Geel M; van der Wielen M J; Bakker E; Padberg G W; Frants R R; van der Maarel S M
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
Annals of neurology 2001;50(6):816-9.
2001: Lesnik Oberstein S A; van den Boom R; van Buchem M A; van Houwelingen H C; Bakker E; Vollebregt E; Ferrari M D; Breuning M H; Haan J;
Cerebral microbleeds in CADASIL.
Neurology 2001;57(6):1066-70.
2001: Haan J; Bakker E; Bornebroek M; Roos R A
[From gene to disease; amyloid-beta precursor protein gene instrumental in hereditary cerebral amyloid angiopathies]
Nederlands tijdschrift voor geneeskunde 2001;145(34):1639-41.
2000: Ginjaar I B; Kneppers A L; v d Meulen J D; Anderson L V; Bremmer-Bout M; van Deutekom J C; Weegenaar J; den Dunnen J T; Bakker E
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
European journal of human genetics : EJHG 2000;8(10):793-6.
2000: Ginjaar H B; van der Kooi A J; Ceelie H; Kneppers A L; van Meegen M; Barth P G; Busch H F; Wokke J H; Anderson L V; Bönnemann C G; Jeanpierre M; Bolhuis P A; Moorman A F; de Visser M; Bakker E; Ommen G J
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
Journal of neurology 2000;247(7):524-9.
2000: van der Kooi A J; Visser M C; Rosenberg N; van den Berg-Vos R; Wokke J H; Bakker E; de Visser M
Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.
Journal of neurology, neurosurgery, and psychiatry 2000;69(1):114-6.
1999: van der Maarel S M; Deidda G; Lemmers R J; Bakker E; van der Wielen M J; Sandkuijl L; Hewitt J E; Padberg G W; Frants R R
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
Journal of medical genetics 1999;36(11):823-8.
1999: Bovée J V; Cleton-Jansen A M; Wuyts W; Caethoven G; Taminiau A H; Bakker E; Van Hul W; Cornelisse C J; Hogendoorn P C
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.
American journal of human genetics 1999;65(3):689-98.
1999: van Ommen G J; Bakker E; den Dunnen J T
The human genome project and the future of diagnostics, treatment, and prevention.
Lancet 1999;354 Suppl 1():SI5-10.
1999: Hoogerwaard E M; van der Wouw P A; Wilde A A; Bakker E; Ippel P F; Oosterwijk J C; Majoor-Krakauer D F; van Essen A J; Leschot N J; de Visser M
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.
Neuromuscular disorders : NMD 1999;9(5):347-51.
1999: de Koning Gans P A; Ginjaar I; Bakker E; Yates J R; den Dunnen J T
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.
Neuromuscular disorders : NMD 1999;9(4):247-50.
1999: Hoogerwaard E M; Bakker E; Ippel P F; Oosterwijk J C; Majoor-Krakauer D F; Leschot N J; Van Essen A J; Brunner H G; van der Wouw P A; Wilde A A; de Visser M
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study.
Lancet 1999;353(9170):2116-9.
1999: Oberstein S A; Ferrari M D; Bakker E; van Gestel J; Kneppers A L; Frants R R; Breuning M H; Haan J
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
Neurology 1999;52(9):1913-5.
1999: Richard I; Roudaut C; Saenz A; Pogue R; Grimbergen J E; Anderson L V; Beley C; Cobo A M; de Diego C; Eymard B; Gallano P; Ginjaar H B; Lasa A; Pollitt C; Topaloglu H; Urtizberea J A; de Visser M; van der Kooi A; Bushby K; Bakker E; Lopez de Munain A; Fardeau M; Beckmann J S
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics 1999;64(6):1524-40.
1999: Roest P A; Bakker E; Fallaux F J; Verellen-Dumoulin C; Murry C E; den Dunnen J T
New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector.
Lancet 1999;353(9154):727-8.
1998: Lemmers R J; van der Maarel S M; van Deutekom J C; van der Wielen M J; Deidda G; Dauwerse H G; Hewitt J; Hofker M; Bakker E; Padberg G W; Frants R R
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Human molecular genetics 1998;7(8):1207-14.
1998: Wuyts W; Van Hul W; De Boulle K; Hendrickx J; Bakker E; Vanhoenacker F; Mollica F; Lüdecke H J; Sayli B S; Pazzaglia U E; Mortier G; Hamel B; Conrad E U; Matsushita M; Raskind W H; Willems P J
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
American journal of human genetics 1998;62(2):346-54.
1998: Deutz-Terlouw P P; Losekoot M; Aalfs C M; Hennekam R C; Bakker E
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
Human mutation 1998;Suppl 1():S62-5.
1997: Bornebroek M; Westendorp R G; Haan J; Bakker E; Timmers W F; Van Broeckhoven C; Roos R A
Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth.
Brain : a journal of neurology 1997;120 ( Pt 12)():2243-9.
1997: Losekoot M; Hoogendoorn E; Olmer R; Jansen C C; Oosterwijk J C; van den Ouweland A M; Halley D J; Warren S T; Willemsen R; Oostra B A; Bakker E
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Journal of medical genetics 1997;34(11):924-6.
1997: Petrij-Bosch A; Peelen T; van Vliet M; van Eijk R; Olmer R; Drüsedau M; Hogervorst F B; Hageman S; Arts P J; Ligtenberg M J; Meijers-Heijboer H; Klijn J G; Vasen H F; Cornelisse C J; van 't Veer L J; Bakker E; van Ommen G J; Devilee P
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.
Nature genetics 1997;17(3):341-5.
1997: Hoogerwaard E M; de Voogt W G; Wilde A A; van der Wouw P A; Bakker E; van Ommen G J; de Visser M
Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period.
Journal of neurology 1997;244(10):657-63.
1997: van Essen A J; Kneppers A L; van der Hout A H; Scheffer H; Ginjaar I B; ten Kate L P; van Ommen G J; Buys C H; Bakker E
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Journal of medical genetics 1997;34(10):805-12.
1997: Oosterwijk J C; Richard G; van der Wielen M J; van de Vosse E; Harth W; Sandkuijl L A; Bakker E; van Ommen G J
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.
Human genetics 1997;100(5-6):520-4.
1997: Bornebroek M; Haan J; Backhovens H; Deutz P; Van Buchem M A; van den Broeck M; Bakker E; Roos R A; Van Broeckhoven C
Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
Annals of neurology 1997;42(1):108-10.
1997: Kant S G; Van Haeringen A; Bakker E; Stec I; Donnai D; Mollevanger P; Beverstock G C; Lindeman-Kusse M C; Van Ommen G J
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Journal of medical genetics 1997;34(7):569-72.
1997: Bornebroek M; Haan J; Van Duinen S G; Maat-Schieman M L; Van Buchem M A; Bakker E; Van Broeckhoven C; Roos R A
Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype.
Annals of neurology 1997;41(5):695-8.
1996: van Deutekom J C; Bakker E; Lemmers R J; van der Wielen M J; Bik E; Hofker M H; Padberg G W; Frants R R
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.
Human molecular genetics 1996;5(12):1997-2003.
1996: Roest P A; Bout M; van der Tuijn A C; Ginjaar I B; Bakker E; Hogervorst F B; van Ommen G J; den Dunnen J T
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
Journal of medical genetics 1996;33(11):935-9.
1996: van der Kooi A J; Barth P G; Busch H F; de Haan R; Ginjaar H B; van Essen A J; van Hooff L J; Höweler C J; Jennekens F G; Jongen P; Oosterhuis H J; Padberg G W; Spaans F; Wintzen A R; Wokke J H; Bakker E; van Ommen G J; Bolhuis P A; de Visser M
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.
Brain : a journal of neurology 1996;119 ( Pt 5)():1471-80.
1996: Roest P A; van der Tuijn A C; Ginjaar H B; Hoeben R C; Hoger-Vorst F B; Bakker E; den Dunnen J T; van Ommen G J
Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins.
Neuromuscular disorders : NMD 1996;6(3):195-202.
1996: Oosterwijk J C; Jansen J C; van Schothorst E M; Oosterhof A W; Devilee P; Bakker E; Zoeteweij M W; van der Mey A G
First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).
Journal of medical genetics 1996;33(5):379-83.
1996: Passos-Bueno M R; Moreira E S; Marie S K; Bashir R; Vasquez L; Love D R; Vainzof M; Iughetti P; Oliveira J R; Bakker E; Strachan T; Bushby K; Zatz M
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Journal of medical genetics 1996;33(2):97-102.
1996: Bakker E; Van der Wielen M J; Voorhoeve E; Ippel P F; Padberg G W; Frants R R; Wijmenga C
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
Journal of medical genetics 1996;33(1):29-35.
1995: Oosterwijk J C; van der Wielen M J; van de Vosse E; Voorhoeve E; Bakker E
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
Journal of medical genetics 1995;32(9):736-9.
1995: Passos-Bueno M R; Bashir R; Moreira E S; Vainzof M; Marie S K; Vasquez L; Iughetti P; Bakker E; Keers S; Stephenson A
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.
Genomics 1995;27(1):192-5.
1995: Deutz-Terlouw P P; Losekoot M; Olmer R; Pieneman W C; de Vries-v d Weerd S; Briët E; Bakker E
Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.
Journal of medical genetics 1995;32(4):296-300.
1995: Brouwer O F; Padberg G W; Bakker E; Wijmenga C; Frants R R
Early onset facioscapulohumeral muscular dystrophy.
Muscle & nerve 1995;2():S67-72.
1995: Bakker E; Wijmenga C; Vossen R H; Padberg G W; Hewitt J; van der Wielen M; Rasmussen K; Frants R R
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
Muscle & nerve 1995;2():S39-44.
1995: Kneppers A L; Deutz-Terlouw P P; den Dunnen J T; van Ommen G J; Bakker E
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
Human mutation 1995;5(3):235-42.
1994: Haan J; Van Broeckhoven C; van Duijn C M; Voorhoeve E; van Harskamp F; van Swieten J C; Maat-Schieman M L; Roos R A; Bakker E
The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations.
Annals of neurology 1994;36(3):434-7.
1994: Saris J J; Vossen R H; Bakker E
A CA repeat polymorphism at D11S1383.
Human molecular genetics 1994;3(3):522.
1994: Hennis B C; Frants R R; Bakker E; Vossen R H; van der Poort E W; Blonden L A; Cox S; Khan P M; Spurr N K; Kluft C
Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: genetic mapping and in situ localization of HRG to chromosome 3q28-q29.
Genomics 1994;19(1):195-7.
1994: Christiaens G C; Oosterwijk J C; Stigter R H; Deutz-Terlouw P P; Kneppers A L; Bakker E
First-trimester prenatal diagnosis in twin pregnancies.
Prenatal diagnosis 1994;14(1):51-5.
1994: Bakker E; Vossen R H; Riley B P; Sherrington R; Vergnaud G; Pearson N M
The EUROGEM map of human chromosome 4.
European journal of human genetics : EJHG 1994;2(3):210-1.
1993: De Rooij K E; De Koning Gans P A; Skraastad M I; Belfroid R D; Vegter-Van Der Vlis M; Roos R A; Bakker E; Van Ommen G J; Den Dunnen J T; Losekoot M
Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.
Journal of medical genetics 1993;30(12):996-1002.
1993: de Rooij K E; de Koning Gans P A; Losekoot M; Bakker E; den Dunnen J T; Vegter-van der Vlis M; Roos R A; van Ommen G J
Borderline repeat expansion in Huntington's disease.
Lancet 1993;342(8885):1491-2.
1993: Passos-Bueno M R; Oliveira J R; Bakker E; Anderson R D; Marie S K; Vainzof M; Roberds S; Campbell K P; Zatz M
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
Human molecular genetics 1993;2(11):1945-7.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.
Journal of medical genetics 1993;30(9):745-51.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
Journal of medical genetics 1993;30(9):737-44.
1993: Nicholson L V; Johnson M A; Bushby K M; Gardner-Medwin D; Curtis A; Ginjaar I B; den Dunnen J T; Welch J L; Butler T J; Bakker E
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.
Journal of medical genetics 1993;30(9):728-36.
1993: Skraastad M I; de Rooij K E; de Koning Gans P A; Verwest A; Vegter-van der Vlis M; Bakker E; den Dunnen J T; van Ommen G B
Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.
Genomics 1993;16(3):599-604.
1993: Passos-Bueno M R; Wijmenga C; Takata R E; Marie S K; Vainzof M; Pavanello R C; Hewitt J E; Bakker E; Carvalho A; Akiyama J
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
Human molecular genetics 1993;2(5):557-62.
1993: Passos-Bueno M R; Byth B C; Rosenberg S; Takata R I; Bakker E; Beggs A H; Pavanello R C; Vainzof M; Davies K E; Zatz M
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
American journal of medical genetics 1993;46(2):172-5.
1993: Passos-Bueno M R; Bakker E; Marie S K; Pavanello R C; Vainzof M; Carvalho A A; Cohen D; Beckmann J; Zatz M
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
Human molecular genetics 1993;2(2):201-2.
1993: Ginjaar H B; Bakker E; Busch H F; Moorman A F; de Visser M; van Ommen J B
[Application of combined DNA and dystrophin protein analysis in the diagnosis of Duchenne's and Becker's muscular dystrophy in 102 Dutch patients]
Nederlands tijdschrift voor geneeskunde 1993;137(2):68-75.
1993: Bergen A A; Wapenaar M C; Schuurman E J; Diergaarde P J; Lerach H; Monaco A P; Bakker E; Bleeker-Wagemakers E M; van Ommen G J
Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.
Cytogenetics and cell genetics 1993;62(4):231-5.
1992: Passos-Bueno M R; Bakker E; Kneppers A L; Takata R I; Rapaport D; den Dunnen J T; Zatz M; van Ommen G J
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
American journal of human genetics 1992;51(5):1150-5.
1992: Skraastad M I; Van de Vosse E; Belfroid R; Höld K; Vegter-van der Vlis M; Sandkuijl L A; Bakker E; van Ommen G J
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.
American journal of human genetics 1992;51(4):730-5.
1992: Müller B; Dechant C; Meng G; Liechti-Gallati S; Doherty R A; Hejtmancik J F; Bakker E; Read A P; Jeanpierre M; Fischbeck K H
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).
Human genetics 1992;89(2):204-6.
1992: Bergen A A; Schuurman E J; van den Born L I; Samanns C; van Dorp D B; Pinckers A J; Bakker E; van Ommen G J; Gal A; Bleeker-Wagemakers E M
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
Clinical genetics 1992;41(3):135-8.
1992: van Essen A J; Abbs S; Baiget M; Bakker E; Boileau C; van Broeckhoven C; Bushby K; Clarke A; Claustres M; Covone A E
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.
Human genetics 1992;88(3):249-57.
1992: Haan J; Bakker E; Jennekens-Schinkel A; Roos R A
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy.
Clinical neurology and neurosurgery 1992;94(4):317-8.
1991: Bergen A A; Samanns C; Schuurman E J; van Osch L; van Dorp D B; Pinckers A J; Bakker E; Gal A; van Ommen G J; Bleeker-Wagemakers E M
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
Human genetics 1991;88(2):162-6.
1991: Bakker E; van Broeckhoven C; Haan J; Voorhoeve E; van Hul W; Levy E; Lieberburg I; Carman M D; van Ommen G J; Frangione B
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
American journal of human genetics 1991;49(3):518-21.
1991: Ginjaar I B; Bakker E; van Paassen M M; den Dunnen J T; Wessels A; Zubrzycka-Gaarn E E; Moorman A F; van Ommen G J
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.
Journal of medical genetics 1991;28(8):505-10.
1991: Blonden L A; Grootscholten P M; den Dunnen J T; Bakker E; Abbs S; Bobrow M; Boehm C; van Broeckhoven C; Baumbach L; Chamberlain J
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
Genomics 1991;10(3):631-9.
1991: Ginjaar I B; Soffers S; Moorman A F; Nicholson L V; Morris G E; Bakker E; van Haeringen A; van Ommen G J
Fetal dystrophin to diagnose carrier status.
Lancet 1991;338(8761):258-9.
1991: Bergen A A; Platje E J; Craig I; Bakker E; Bleeker-Wagemakers E M; van Ommen G J
Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity.
Ophthalmic paediatrics and genetics 1991;12(2):99-103.
1991: Skraastad M I; Verwest A; Bakker E; Vegter-van der Vlis M; van Leeuwen-Cornelisse I; Roos R A; Pearson P L; van Ommen G J
Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers.
American journal of medical genetics 1991;39(2):217-22.
1990: Breuning M H; Snijdewint F G; Dauwerse J G; Saris J J; Bakker E; Pearson P L; vanOmmen G J
Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
Journal of medical genetics 1990;27(10):614-7.
1990: Van Broeckhoven C; Haan J; Bakker E; Hardy J A; Van Hul W; Wehnert A; Vegter-Van der Vlis M; Roos R A
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).
Science (New York, N.Y.) 1990;248(4959):1120-2.
1990: Ginjaar I B; Bakker E; den Dunnen J T; Wessels A; van Paassen M M; Kloosterman M D; Zubrzycka-Gaarn E E; Fischbeck K H; Moorman A F; van Ommen G J
Detection of truncated dystrophin in fetal DMD myotubes.
Advances in experimental medicine and biology 1990;280():17-23.
1989: Den Dunnen J T; Grootscholten P M; Bakker E; Blonden L A; Ginjaar H B; Wapenaar M C; van Paassen H M; van Broeckhoven C; Pearson P L; van Ommen G J
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
American journal of human genetics 1989;45(6):835-47.
1989: Ginjaar I B; Bakker E; den Dunnen J T; van Paassen M M; van Ommen G J; Zubrzycka-Gaarn E; Kloosterman M D; Wessels A; Moorman A F
Immunological study of dystrophin in Duchenne fetus.
Lancet 1989;2(8673):1212-3.
1989: Bakker E; Veenema H; Den Dunnen J T; van Broeckhoven C; Grootscholten P M; Bonten E J; van Ommen G J; Pearson P L
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
Journal of medical genetics 1989;26(9):553-9.
1989: Blonden L A; den Dunnen J T; van Paassen H M; Wapenaar M C; Grootscholten P M; Ginjaar H B; Bakker E; Pearson P L; van Ommen G J
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.
Nucleic acids research 1989;17(14):5611-21.
1989: Skraastad M I; Bakker E; de Lange L F; Vegter-van der Vlis M; Klein-Breteler E G; van Ommen G J; Pearson P L
Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region.
American journal of human genetics 1989;44(4):560-6.
1989: Bakker E; Bonten E J; den Dunnen J T; Veenema H; Grootscholten P M; van Ommen G J; Pearson P L
Carrier detection and prenatal diagnosis of Duchenne/Becker muscular dystrophy (D/BMD) by DNA-analysis.
Progress in clinical and biological research 1989;306():51-67.
1989: Bakker E; Bonten E J; Veenema H; den Dunnen J T; Grootscholten P M; van Ommen G J; Pearson P L
Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field.
Journal of inherited metabolic disease 1989;12 Suppl 1():174-90.
1988: Wapenaar M C; Kievits T; Hart K A; Abbs S; Blonden L A; den Dunnen J T; Grootscholten P M; Bakker E; Verellen-Dumoulin C; Bobrow M
A deletion hot spot in the Duchenne muscular dystrophy gene.
Genomics 1988;2(2):101-8.
1987: van Ommen G J; Bertelson C; Ginjaar H B; den Dunnen J T; Bakker E; Chelly J; Matton M; van Essen A J; Bartley J; Kunkel L M
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
Genomics 1987;1(4):329-36.
1987: Bakker E; Skraastad M I; Fisser-Groen Y M; van Ommen G J; Pearson P L
Two additional RFLPs at the D4S10 locus, useful for Huntington's disease (HD)-family studies.
Nucleic acids research 1987;15(21):9100.
1987: den Dunnen J T; Bakker E; Breteler E G; Pearson P L; van Ommen G J
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.
Nature 1987;329(6140):640-2.
1987: Bakker E; Van Broeckhoven C; Bonten E J; van de Vooren M J; Veenema H; Van Hul W; Van Ommen G J; Vandenberghe A; Pearson P L
Germline mosaicism and Duchenne muscular dystrophy mutations.
Nature 1987;329(6139):554-6.
1987: Carpenter N J; Veenema H; Bakker E; Hofker M H; Pearson P L
A new DNA probe proximal to and closely linked to fragile X.
American journal of medical genetics 1987;27(3):731-2.
1987: Veenema H; Carpenter N J; Bakker E; Hofker M H; Ward A M; Pearson P L
The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.
Journal of medical genetics 1987;24(7):413-21.
1987: Hofker M H; Bergen A A; Skraastad M I; Carpenter N J; Veenema H; Connor J M; Bakker E; van Ommen G J; Pearson P L
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.
American journal of human genetics 1987;40(4):312-28.
1986: Bakker E; Bonten E J; De Lange L F; Veenema H; Majoor-Krakauer D; Hofker M H; Van Ommen G J; Pearson P L
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.
Journal of medical genetics 1986;23(6):573-80.
1986: Hofker M H; Bergen A A; Skraastad M I; Bakker E; Francke U; Wieringa B; Bartley J; van Ommen G J; Pearson P L
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Human genetics 1986;74(3):275-9.
1986: Hofker M H; Skraastad M I; Bergen A A; Wapenaar M C; Bakker E; Millington-Ward A; van Ommen G J; Pearson P L
The X chromosome shows less genetic variation at restriction sites than the autosomes.
American journal of human genetics 1986;39(4):438-51.
1986: Kunkel L M; Hejtmancik J F; Caskey C T; Speer A; Monaco A P; Middlesworth W; Colletti C A; Bertelson C; Müller U; Bresnan M; Shapiro F; Tantravahi U; Speer J; Latt S A; Bartlett R; Pericak-Vance M A; Roses A D; Thompson M W; Ray P N; Worton R G; Fischbeck K H; Gallano P; Coulon M; Duros C; Boue J; Junien C; Chelly J; Hamard G; Jeanpierre M; Lambert M; Kaplan J C; Emery A; Dorkins H; McGlade S; Davies K E; Boehm C; Arveiler B; Lemaire C; Morgan G J; Denton M J; Amos J; Bobrow M; Benham F; Boswinkel E; Cole C; Dubowitz V; Hart K; Hodgson S; Johnson L; Walker A; Roncuzzi L; Ferlini A; Nobile C; Romeo G; Wilcox D E; Affara N A; Ferguson-Smith M A; Lindolf M; Kaariainen H; de la Chapelle A; Ionasescu V; Searby C; Ionasescu R; Bakker E; van Ommen G J; Pearson P L; Greenberg C R; Hamerton J L; Wrogemann K; Doherty R A; Polakowska R; Hyser C; Quirk S; Thomas N; Harper J F; Darras B T; Francke U
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1985: Hofker M H; Wapenaar M C; Goor N; Bakker E; van Ommen G J; Pearson P L
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
Human genetics 1985;70(2):148-56.

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