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Egbert Bakker

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Jessica M E van den Oever; PN Adama van Scheltema; Egbert Bakker; Sahila Balkassmi; Mariëtte J V Hoffer; Lennart F Johansson; Birgit Sikkema-Raddatz; Richard J Sinke; Ron F Suijkerbuijk; Elles M J Boon
Successful noninvasive trisomy 18 detection using single molecule sequencing.
Antoon H van Lierop; Martje E van Egmond; Egbert Bakker; Freek G Dikkers; Neveen A T Hamdy; Socrates E Papapoulos
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.
Sarina G Kant; Egbert Bakker; Marloes Bos; Sander J Broekman; Caroline C de Wit; Wilma Oostdijk; Sitha A Scheltinga; Annemieke H van der Hout; Hetty J van der Kamp; Erik W van Zwet; Jan M Wit; Monique Losekoot
Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.

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2013: Jessica M E van den Oever; PN Adama van Scheltema; Egbert Bakker; Sahila Balkassmi; Mariëtte J V Hoffer; Lennart F Johansson; Birgit Sikkema-Raddatz; Richard J Sinke; Ron F Suijkerbuijk; Elles M J Boon
Successful noninvasive trisomy 18 detection using single molecule sequencing.
Clinical chemistry 2013;59(4):705-9.
2013: Antoon H van Lierop; Martje E van Egmond; Egbert Bakker; Freek G Dikkers; Neveen A T Hamdy; Socrates E Papapoulos
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013;28(4):848-54.
2013: Sarina G Kant; Egbert Bakker; Marloes Bos; Sander J Broekman; Caroline C de Wit; Wilma Oostdijk; Sitha A Scheltinga; Annemieke H van der Hout; Hetty J van der Kamp; Erik W van Zwet; Jan M Wit; Monique Losekoot
Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.
PeerJ 2013;1():e35.
2013: A T J M Helderman-van den Enden; Kamlesh Madan; Annemieke H van der Hout; Egbert Bakker; Martijn H Breuning; C E M de Die-Smulders; HB Ginjaar
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
European journal of human genetics : EJHG 2013;21(1):21-6.
2012: Marion Phylipsen; Emmely E Treffers; Supawadee Yamsri; Diahann T S L Jansen; Warsha A Kanhai; Egbert Bakker; Elles M J Boon; Supan Fucharoen; Piero C Giordano; Cornelis L Harteveld
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
Prenatal diagnosis 2012;32(6):578-87.
2012: Jessica M E van den Oever; Maarten van Iterson; Jan M M van Lith; E Joanne Verweij; Phebe N Adama van Scheltema; Egbert Bakker; Sahila Balkassmi; Johan T den Dunnen; Mariëtte J V Hoffer; Dick Oepkes; Elles M J Boon
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.
Clinical chemistry 2012;58(4):699-706.
2011: S M Schade van Westrum; Anthonie J van Essen; A A M Wilde; Egbert Bakker; R J de Haan; Marianne De Visser; L Dekker; Edo M Hoogerwaard; P F Ippel; Nico J Leschot; D F Majoor-Krakauer; Jan C Oosterwijk; T S Standaar; Anneke J van der Kooi
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy.
Neurology 2011;77(1):62-6.
2011: Antoinet C J Gijsbers; Kerstin M B Hansson; Sarina G Kant; Egbert Bakker; Elles M J Boon; Cathy A J Bosch; Martijn H Breuning; Johannes G Dauwerse; Wilco van den Ende; Claudia Ruivenkamp
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.
European journal of medical genetics 2011;54(4):e409-12.
2011: A T J M Helderman-van den Enden; J C van den Bergen; M H Breuning; J J G M Verschuuren; Aad Tibben; Egbert Bakker; H B Ginjaar
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
Clinical genetics 2011;79(3):236-42.
2011: 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
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
The Journal of clinical endocrinology and metabolism 2011;96(2):E356-9.
2011: Rowida Almomani; Jaap van der Heijden; Yavuz Ariyurek; Yuching Lai; Egbert Bakker; Michiel van Galen; Martijn H Breuning; Johan T den Dunnen
Experiences with array-based sequence capture; toward clinical applications.
European journal of human genetics : EJHG 2011;19(1):50-5.
2011: A C J Gijsbers; N S den Hollander; A T J M Helderman-van de Enden; J H M Schuurs-Hoeijmakers; L Vijfhuizen; E K Bijlsma; A van Haeringen; K B M Hansson; Egbert Bakker; Martijn H Breuning; C A L Ruivenkamp
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
Clinical genetics 2011;79(1):71-8.
2010: 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 Bovee
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.
The American journal of pathology 2010;177(4):1946-57.
2010: 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
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Human mutation 2010;31(10):1125-33.
2010: Antoinet C J Gijsbers; Cathy A J Bosch; Johannes G Dauwerse; Osdilly Giromus; K B M Hansson; Y Hilhorst-Hofstee; Marjolein Kriek; Arie van Haeringen; Emilia K Bijlsma; Egbert Bakker; Martijn H Breuning; Claudia Ruivenkamp
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
European journal of medical genetics 2010;53(5):227-33.
2010: Erik H Niks; J B M Kuks; John H J Wokke; Henk Veldman; Egbert Bakker; Jan J Verschuuren; Jaap J Plomp
Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia.
Muscle & nerve 2010;42(2):283-8.
2010: A C J Gijsbers; Arie van Haeringen; C A J Bosch; K B M Hansson; M Verschuren; Egbert Bakker; Martijn H Breuning; Claudia Ruivenkamp
A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplication.
Cytogenetic and genome research 2010;128(4):245-9.
2010: A T J M Helderman-van den Enden; C S M Straathof; Aartsma-Rus Annemieke; Johan T den Dunnen; Berit M Verbist; Egbert Bakker; Jan J Verschuuren; HB Ginjaar
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.
Neuromuscular disorders : NMD 2010;20(4):251-4.
2009: Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; NS den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia Ruivenkamp
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: 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
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: P van Vliet; R G J Westendorp; P Eikelenboom; Hannie C Comijs; Marijke Frölich; Egbert Bakker; Wiesje M van der Flier; Eric van Exel
Parental history of Alzheimer disease associated with lower plasma apolipoprotein E levels.
Neurology 2009;73(9):681-7.
2009: Rowida Almomani; Nienke van der Stoep; Egbert Bakker; Johan T den Dunnen; Martijn H Breuning; Ieke B Ginjaar
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: Nienke van der Stoep; Chantal D M van Paridon; Tom Janssens; Petra Krenkova; Alexandra Stambergova; Milan Macek Jr.; Gert Matthijs; Egbert Bakker
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: A T J M Helderman-van den Enden; R de Jong; Johan T den Dunnen; J J Houwing-Duistermaat; A L J Kneppers; HB Ginjaar; Martijn H Breuning; Egbert Bakker
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
Clinical genetics 2009;75(5):465-72.
2009: Maaike P G Vreeswijk; Jaennelle N Kraan; Heleen van der Klift; Geraldine R Vink; Cees J Cornelisse; Juul Wijnen; Egbert Bakker; Christi J van Asperen; Peter Devilee
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: Antoinet C J Gijsbers; Barbara D'haene; Y 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 Ruivenkamp
Identification of copy number variants associated with BPES-like phenotypes.
Human genetics 2008;124(5):489-98.
2008: Antoinet C J Gijsbers; Emilia K Bijlsma; Janneke Weiss; Egbert Bakker; Martijn H Breuning; Mariëtte J V Hoffer; Claudia Ruivenkamp
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: Dorine W Swinkels; Hanka Venselaar; Erwin T G Wiegerinck; Egbert Bakker; Irma Joosten; Christian A J J Jaspers; Wies L Vasmel; Martijn H Breuning
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: Frederik J Hes; Maartje Nielsen; Elsa Bik; D Konvalinka; Juul Wijnen; Egbert Bakker; H F A Vasen; Martijn H Breuning; Carli Tops
Somatic APC mosaicism: an underestimated cause of polyposis coli.
Gut 2008;57(1):71-6.
2007: Maartje Nielsen; Elsa Bik; Frederik J Hes; Martijn H Breuning; H F A Vasen; Egbert Bakker; Carli Tops; Janneke Weiss
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: 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
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: Anneke J van der Kooi; Wendy S Frankhuizen; Peter G Barth; C J Howeler; G W Padberg; F Spaans; Axel R Wintzen; J H J Wokke; Gert-Jan B van Ommen; Marianne De Visser; Egbert Bakker; HB Ginjaar
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
Neurology 2007;68(24):2125-8.
2007: Jeroen Knijnenburg; Arie van Haeringen; K B M Hansson; Arjan C Lankester; Margot J M Smit; René D M Belfroid; Egbert Bakker; Carla Rosenberg; Hans J Tanke; Karoly Szuhai
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: M J V Hoffer; Y Hilhorst-Hofstee; Jeroen Knijnenburg; K B M Hansson; A C Engelberts; L A E M Laan; Egbert Bakker; Carla Rosenberg
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: Richard Lemmers; Michiel J R van der Wielen; Egbert Bakker; Rune R Frants; Silvère M van der Maarel
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(9-10):615-7; author reply 617-8.
2006: A Yaël Nossent; J C J Eikenboom; Hans L Vos; Egbert Bakker; Bea C Tanis; C J M Doggen; Rogier M Bertina; Frits R Rosendaal
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: Carla Rosenberg; Jeroen Knijnenburg; Egbert Bakker; Angela M Vianna-Morgante; Willem C R Sloos; P A Otto; Marjolein Kriek; K B M Hansson; Ana Cristina Krepischi-Santos; Heike Fiegler; Nigel P Carter; Emilia K Bijlsma; Arie van Haeringen; Karoly Szuhai; Hans J Tanke
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: Edo M Hoogerwaard; Ieke B Ginjaar; Egbert Bakker; Marianne De Visser
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
Neurology 2005;65(12):1984-6.
2005: Geraldine R Vink; Christi J van Asperen; Peter Devilee; Martijn H Breuning; Egbert Bakker
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: Geraldine R Vink; Stefan J White; Strelicija Gabelic; Pancras Hogendoorn; Martijn H Breuning; Egbert Bakker
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: Richard Lemmers; Michiel J R van der Wielen; Egbert Bakker; George W Padberg; Rune R Frants; Silvère M van der Maarel
Somatic mosaicism in FSHD often goes undetected.
Annals of neurology 2004;55(6):845-50.
2004: Rogier A Oldenburg; Wouter H de Vos tot Nederveen Cappel; Marjo Van Puijenbroek; Ans M W van den Ouweland; Egbert Bakker; Gerrit Griffioen; Peter Devilee; Cees J Cornelisse; Hanne Meijers-Heijboer; H F A Vasen; Hans Morreau
Extending the p16-Leiden tumour spectrum by respiratory tract tumours.
Journal of medical genetics 2004;41(3):e31.
2004: D Konvalinka; Elsa Bik; Carli Tops; Egbert Bakker; A R Singh; R Vrtĕl; Jirí Santavý
[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis].
Casopís lékar̆ů c̆eských 2004;143(8):543-6.
2004: Christi J van Asperen; M A Jonker; Catharina E Jacobi; J E M van Diemen-Homan; Egbert Bakker; Martijn H Breuning; Johannes C van Houwelingen; Geertruida H de Bock
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: A L J Kneppers; Ieke B Ginjaar; Egbert Bakker
Duchenne and Becker muscular dystrophy.
Methods in molecular medicine 2004;92():311-41.
2004: Robert M W Hofstra; Inge M Mulder; Rolf H A M 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
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
2003: Marielle Wohlgemuth; Richard Lemmers; EL van der Kooi; M J van der Wielen; Petra G M van Overveld; Hans Dauwerse; Egbert Bakker; Rune R Frants; George W Padberg; Silvère M van der Maarel
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Neurology 2003;61(7):909-13.
2003: A T J M Helderman-van den Enden; HB Ginjaar; A L J Kneppers; Egbert Bakker; Martijn H Breuning; Marianne De Visser
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: Johannes G Dauwerse; C E M de Die-Smulders; Egbert Bakker; Martijn H Breuning; Dorien J M Peters
Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect.
Journal of medical genetics 2002;39(9):686-8.
2001: Peggy de Kievit; Michel van Geel; Michiel J R van der Wielen; Egbert Bakker; George W Padberg; Rune R Frants; Silvère M van der Maarel
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
Annals of neurology 2001;50(6):816-9.
2001: Saskia A J Lesnik Oberstein; Rivka van Den Boom; Mark A Van Buchem; Hans C van Houwelingen; Egbert Bakker; E Vollebregt; Michel D Ferrari; Martijn H Breuning; Joost Haan
Cerebral microbleeds in CADASIL.
Neurology 2001;57(6):1066-70.
2001: Joost Haan; Egbert Bakker; Marjolijn Bornebroek; Raymund A C Roos
[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: Ieke B Ginjaar; A L J Kneppers; J D v d Meulen; Louise V B Anderson; Mattie Bremmer-Bout; Judith C T van Deutekom; Jitske Weegenaar; Johan T den Dunnen; Egbert Bakker
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: HB Ginjaar; Anneke J van der Kooi; Huib Ceelie; A L J Kneppers; MT van Meegen; Peter G Barth; H F M Busch; J H J Wokke; Louise V B Anderson; CG Bönnemann; M Jeanpierre; PA Bolhuis; A F Moorman; Marianne De Visser; Egbert Bakker; G J Ommen
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
Journal of neurology 2000;247(7):524-9.
2000: Anneke J van der Kooi; Marieke C Visser; N Rosenberg; Renske M Van den Berg-Vos; J H J Wokke; Egbert Bakker; Marianne De Visser
Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases.
Journal of neurology, neurosurgery, and psychiatry 2000;69(1):114-6.
1999: Silvère M van der Maarel; G Deidda; Richard Lemmers; Egbert Bakker; Michiel J R van der Wielen; Lodewijk A Sandkuijl; Jane E Hewitt; George W Padberg; Rune R Frants
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: Judith Bovee; Anne-Marie Cleton-Jansen; Wim Wuyts; G Caethoven; Antonie H M Taminiau; Egbert Bakker; W Van Hul; Cees J Cornelisse; Pancras Hogendoorn
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: G J van Ommen; Egbert Bakker; J T den Dunnen
The human genome project and the future of diagnostics, treatment, and prevention.
Lancet 1999;354 Suppl 1():SI5-10.
1999: Edo M Hoogerwaard; Pol A van der Wouw; Arthur A M Wilde; Egbert Bakker; P F Ippel; Jan C Oosterwijk; D F Majoor-Krakauer; Anthonie J van Essen; Nico J Leschot; Marianne De Visser
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.
Neuromuscular disorders : NMD 1999;9(5):347-51.
1999: Edo M Hoogerwaard; Egbert Bakker; P F Ippel; Jan C Oosterwijk; D F Majoor-Krakauer; Nico J Leschot; Anthonie J van Essen; H G Brunner; Pol A van der Wouw; Arthur A M Wilde; Marianne De Visser
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: S A Oberstein; Michel D Ferrari; Egbert Bakker; J van Gestel; A L J Kneppers; Rune R Frants; Martijn H Breuning; Joost Haan
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
Neurology 1999;52(9):1913-5.
1999: P A de Koning Gans; Ieke B Ginjaar; Egbert Bakker; J R W Yates; Johan T den Dunnen
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: Isabelle Richard; Carinne Roudaut; A Saenz; R Pogue; J E Grimbergen; Louise V B Anderson; C Beley; Anna Maria Cobo; C de Diego; Bruno Eymard; Pía Gallano; HB Ginjaar; Adriana Lasa; C Pollitt; Haluk Topaloglu; J Andoni Urtizberea; Marianne De Visser; Anneke J van der Kooi; Kate Bushby; Egbert Bakker; Adolfo Lopez de Munain; M Fardeau; Jacques Beckmann
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics 1999;64(6):1524-40.
1999: P A Roest; Egbert Bakker; F J Fallaux; C Verellen-Dumoulin; C E Murry; Johan T den Dunnen
New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector.
Lancet 1999;353(9154):727-8.
1998: Richard Lemmers; Silvère M van der Maarel; Judith C T van Deutekom; Michiel J R van der Wielen; G Deidda; Hans Dauwerse; J Hewitt; M Hofker; Egbert Bakker; George W Padberg; Rune R Frants
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: Wim Wuyts; Wim Van Hul; K De Boulle; Jan Hendrickx; Egbert Bakker; Filip Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; Geert R Mortier; B Hamel; Ernest U Conrad; M Matsushita; Wendy H Raskind; Patrick J Willems
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
American journal of human genetics 1998;62(2):346-54.
1998: P P Deutz-Terlouw; Monique Losekoot; C M Aalfs; Raoul Hennekam; Egbert Bakker
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
Human mutation 1998;Suppl 1():S62-5.
1997: Marjolijn Bornebroek; Rudi G J Westendorp; Joost Haan; Egbert Bakker; W F Timmers; Christine Van Broeckhoven; Raymund A C Roos
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: Monique Losekoot; E Hoogendoorn; R Olmer; C C Jansen; Jan C Oosterwijk; Ans M W van den Ouweland; D J J Halley; Stephen Warren; Rob Willemsen; Ben A Oostra; Egbert Bakker
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: A Petrij-Bosch; T Peelen; Marcel van Vliet; Ronald van Eijk; R Olmer; M Drüsedau; Frans B L Hogervorst; S Hageman; PJ Arts; M J L Ligtenberg; Hanne Meijers-Heijboer; Jan G M Klijn; H F A Vasen; Cees J Cornelisse; Laura J van 't Veer; Egbert Bakker; Gert-Jan B van Ommen; Peter Devilee
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.
Nature genetics 1997;17(3):341-5.
1997: Edo M Hoogerwaard; Willem G de Voogt; Arthur A M Wilde; Pol A van der Wouw; Egbert Bakker; Gert-Jan B van Ommen; Marianne De Visser
Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period.
Journal of neurology 1997;244(10):657-63.
1997: Anthonie J van Essen; A L J Kneppers; Annemarie H Van Der Hout; Hans Scheffer; Ieke B Ginjaar; Leo P ten Kate; Gert-Jan B van Ommen; Charles H C M Buys; Egbert Bakker
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: Jan C Oosterwijk; G Richard; Michiel J R van der Wielen; Esther van de Vosse; Wolfgang Harth; Lodewijk A Sandkuijl; Egbert Bakker; Gert-Jan B van Ommen
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: Marjolijn Bornebroek; Joost Haan; Hubert Backhovens; P Deutz; Mark A Van Buchem; Marleen Van den Broeck; Egbert Bakker; Raymund A C Roos; Christine Van Broeckhoven
Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
Annals of neurology 1997;42(1):108-10.
1997: Sarina G Kant; Arie van Haeringen; Egbert Bakker; I Stec; D Donnai; Paul Mollevanger; Geoffrey C Beverstock; M C Lindeman-Kusse; Gert-Jan B van Ommen
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: Marjolijn Bornebroek; Joost Haan; Sjoerd G van Duinen; Marion L C Maat-Schieman; Mark A Van Buchem; Egbert Bakker; Christine Van Broeckhoven; Raymund A C Roos
Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype.
Annals of neurology 1997;41(5):695-8.
1996: Judith C T van Deutekom; Egbert Bakker; Richard Lemmers; Michiel J R van der Wielen; E Bik; Marten H Hofker; George W Padberg; Rune R Frants
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: P A Roest; M Bout; A C van der Tuijn; I B Ginjaar; Egbert Bakker; Frans B L Hogervorst; Gert-Jan B van Ommen; Johan T den Dunnen
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: Anneke J van der Kooi; Peter G Barth; H F M Busch; Rob J De Haan; HB Ginjaar; Anthonie J van Essen; L J van Hooff; Chris J Höweler; F G I Jennekens; P Jongen; H J Oosterhuis; George W Padberg; F Spaans; A R Wintzen; J H J Wokke; Egbert Bakker; Gert-Jan B van Ommen; PA Bolhuis; Marianne De Visser
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: P A Roest; A C van der Tuijn; HB Ginjaar; Rob Hoeben; F B Hoger-Vorst; Egbert Bakker; Johan T den Dunnen; Gert-Jan B van Ommen
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: Jan C Oosterwijk; Jeroen C Jansen; EM van Schothorst; A W Oosterhof; Peter Devilee; Egbert Bakker; Moniek W Zoeteweij; Andel G L van der Mey
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: Maria Rita Passos-Bueno; Eloisa S Moreira; Suely K N Marie; Rumaisa Bashir; L Vasquez; D R Love; Mariz Vainzof; Paula Iughetti; João R M Oliveira; Egbert Bakker; T Strachan; K Bushby; Mayana Zatz
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: Egbert Bakker; Michiel J R van der Wielen; E Voorhoeve; P F Ippel; George W Padberg; Rune R Frants; Cisca Wijmenga
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: Jan C Oosterwijk; Michiel J R van der Wielen; Esther van de Vosse; E Voorhoeve; Egbert Bakker
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: Maria Rita Passos-Bueno; Rumaisa Bashir; Eloisa S Moreira; Mariz Vainzof; Suely K N Marie; L Vasquez; Paula Iughetti; Egbert Bakker; Sharon M Keers; A Stephenson
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: P P Deutz-Terlouw; Monique Losekoot; R Olmer; W C Pieneman; S de Vries-v d Weerd; E Briët; Egbert Bakker
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: Oebele F Brouwer; George W Padberg; Cisca Wijmenga; Egbert Bakker; Rune R Frants
Early onset facioscapulohumeral muscular dystrophy.
Muscle & nerve. Supplement 1995;(2):S67-72.
1995: Egbert Bakker; J Hewitt; George W Padberg; K Rasmussen; Michiel J R van der Wielen; R H Vossen; Cisca Wijmenga; Rune R Frants
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
Muscle & nerve. Supplement 1995;(2):S39-44.
1995: Oebele F Brouwer; George W Padberg; Egbert Bakker; Cisca Wijmenga; Rune R Frants
Early onset facioscapulohumeral muscular dystrophy.
Muscle & nerve. Supplement 1995;2():S67-72.
1995: Egbert Bakker; Cisca Wijmenga; R H Vossen; George W Padberg; J Hewitt; Michiel J R van der Wielen; K Rasmussen; Rune R Frants
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.
Muscle & nerve. Supplement 1995;2():S39-44.
1995: A L Kneppers; P P Deutz-Terlouw; Johan T den Dunnen; Gert-Jan B van Ommen; Egbert Bakker
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: Joost Haan; Christine Van Broeckhoven; C.M. Duijn; E Voorhoeve; Frans van Harskamp; John C van Swieten; Marion L C Maat-Schieman; Raymund A C Roos; Egbert Bakker
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: Jasper J Saris; R H Vossen; Egbert Bakker
A CA repeat polymorphism at D11S1383.
Human molecular genetics 1994;3(3):522.
1994: B C Hennis; Rune R Frants; Egbert Bakker; R H Vossen; E W van der Poort; L A Blonden; S Cox; PM Khan; N K Spurr; Cornelis Kluft
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: G C M L Christiaens; J C Oosterwijk; R H Stigter; P P Deutz-Terlouw; A L Kneppers; Egbert Bakker
First-trimester prenatal diagnosis in twin pregnancies.
Prenatal diagnosis 1994;14(1):51-5.
1994: Egbert Bakker; R H Vossen; B P Riley; R Sherrington; Gilles Vergnaud; N M Pearson
The EUROGEM map of human chromosome 4.
European journal of human genetics : EJHG 1994;2(3):210-1.
1993: K E de Rooij; P A de Koning Gans; Monique Losekoot; Egbert Bakker; Johan T den Dunnen; Maria Vegter-van der Vlis; Raymund A C Roos; Gert-Jan B van Ommen
Borderline repeat expansion in Huntington's disease.
Lancet 1993;342(8885):1491-2.
1993: K E De Rooij; P A De Koning Gans; M I Skraastad; R D Belfroid; Maria Vegter-van der Vlis; Raymund A C Roos; Egbert Bakker; Gert-Jan B van Ommen; Johan T den Dunnen; Monique Losekoot
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: Maria Rita Passos-Bueno; João R M Oliveira; Egbert Bakker; R D Anderson; Suely K N Marie; Mariz Vainzof; S Roberds; Kevin P Campbell; Mayana Zatz
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
Human molecular genetics 1993;2(11):1945-7.
1993: L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; Johan T den Dunnen; J L Welch; T J Butler; Egbert Bakker
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: L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; Johan T den Dunnen; J L Welch; T J Butler; Egbert Bakker
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: L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; Johan T den Dunnen; J L Welch; T J Butler; Egbert Bakker
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: M I Skraastad; K E de Rooij; P A de Koning Gans; A Verwest; Maria Vegter-van der Vlis; Egbert Bakker; Johan T den Dunnen; G B van Ommen
Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.
Genomics 1993;16(3):599-604.
1993: Maria Rita Passos-Bueno; Cisca Wijmenga; R E Takata; Suely K N Marie; Mariz Vainzof; Rita C M Pavanello; Jane E Hewitt; Egbert Bakker; A Carvalho; J Akiyama
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
Human molecular genetics 1993;2(5):557-62.
1993: Maria Rita Passos-Bueno; B C Byth; S Rosenberg; R I Takata; Egbert Bakker; A H Beggs; Rita C M Pavanello; Mariz Vainzof; Kay E Davies; Mayana Zatz
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: Maria Rita Passos-Bueno; Egbert Bakker; Suely K N Marie; Rita C M Pavanello; Mariz Vainzof; A A Carvalho; D Cohen; Jacques Beckmann; Mayana Zatz
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: HB Ginjaar; Egbert Bakker; H F M Busch; Antoon F M Moorman; Marianne De Visser; J B van Ommen
[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: Arthur A B Bergen; M C Wapenaar; E J Schuurman; P J Diergaarde; H Lerach; Anthony P Monaco; Egbert Bakker; EM Bleeker-Wagemakers; Gert-Jan B van Ommen
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: Maria Rita Passos-Bueno; Egbert Bakker; A L Kneppers; R I Takata; D Rapaport; Johan T den Dunnen; Mayana Zatz; Gert-Jan B van Ommen
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: M I Skraastad; Esther van de Vosse; R Belfroid; K Höld; Maria Vegter-van der Vlis; Lodewijk A Sandkuijl; Egbert Bakker; Gert-Jan B van Ommen
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: B Müller; C Dechant; G Meng; S Liechti-Gallati; R A Doherty; J Fielding Hejtmancik; Egbert Bakker; A P Read; Marc Jeanpierre; Kenneth H Fischbeck
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).
Human genetics 1992;89(2):204-6.
1992: Arthur A B Bergen; E J Schuurman; L Ingeborgh Van Den Born; C Samanns; D B van Dorp; Alfred J L G Pinckers; Egbert Bakker; Gert-Jan B van Ommen; Andreas Gal; EM Bleeker-Wagemakers
Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
Clinical genetics 1992;41(3):135-8.
1992: Anthonie J van Essen; Stephen Abbs; M Baiget; Egbert Bakker; catherine boileau; Christine Van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.
Human genetics 1992;88(3):249-57.
1992: Joost Haan; Egbert Bakker; A Jennekens-Schinkel; Raymund A C Roos
Progressive dementia, without cerebral hemorrhage, in a patient with hereditary cerebral amyloid angiopathy.
Clinical neurology and neurosurgery 1992;94(4):317-8.
1991: Arthur A B Bergen; C Samanns; E J Schuurman; L van Osch; D B van Dorp; Alfred J L G Pinckers; Egbert Bakker; Andreas Gal; Gert-Jan B van Ommen; EM Bleeker-Wagemakers
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.
Human genetics 1991;88(2):162-6.
1991: Egbert Bakker; Christine Van Broeckhoven; Joost Haan; E Voorhoeve; Wim Van Hul; Efrat Levy; I Lieberburg; M D Carman; Gert-Jan B van Ommen; Blas Frangione
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
American journal of human genetics 1991;49(3):518-21.
1991: I B Ginjaar; Egbert Bakker; M M van Paassen; Johan T den Dunnen; Andy Wessels; E E Zubrzycka-Gaarn; Antoon F M Moorman; Gert-Jan B van Ommen
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: I B Ginjaar; S Soffers; Antoon F M Moorman; L V Nicholson; G E Morris; Egbert Bakker; A van Haeringen; Gert-Jan B van Ommen
Fetal dystrophin to diagnose carrier status.
Lancet 1991;338(8761):258-9.
1991: L A Blonden; P M Grootscholten; Johan T den Dunnen; Egbert Bakker; Stephen Abbs; Martin Bobrow; Corinne D Boehm; Christine Van Broeckhoven; Lisa Baumbach; J Chamberlain
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
Genomics 1991;10(3):631-9.
1991: Arthur A B Bergen; E J Platje; I Craig; Egbert Bakker; EM Bleeker-Wagemakers; Gert-Jan B van Ommen
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: M I Skraastad; A Verwest; Egbert Bakker; Maria Vegter-van der Vlis; I van Leeuwen-Cornelisse; Raymund A C Roos; P L Pearson; Gert-Jan B van Ommen
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: Martijn H Breuning; F G Snijdewint; J G Dauwerse; Jasper J Saris; Egbert Bakker; P L Pearson; G J vanOmmen
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: Christine Van Broeckhoven; J Haan; Egbert Bakker; John Hardy; Wim Van Hul; A Wehnert; M Vegter-Van der Vlis; Raymund A C Roos
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).
Science (New York, N.Y.) 1990;248(4959):1120-2.
1990: I B Ginjaar; Egbert Bakker; Johan T den Dunnen; Andy Wessels; M M van Paassen; M D Kloosterman; E E Zubrzycka-Gaarn; Kenneth H Fischbeck; Antoon F M Moorman; Gert-Jan B van Ommen
Detection of truncated dystrophin in fetal DMD myotubes.
Advances in experimental medicine and biology 1990;280():17-23.
1989: Johan T den Dunnen; P M Grootscholten; Egbert Bakker; L A Blonden; HB Ginjaar; M C Wapenaar; H M van Paassen; Christine Van Broeckhoven; P L Pearson; Gert-Jan B van Ommen
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: I B Ginjaar; Egbert Bakker; Johan T den Dunnen; M M van Paassen; Gert-Jan B van Ommen; E Zubrzycka-Gaarn; M D Kloosterman; Andy Wessels; Antoon F M Moorman
Immunological study of dystrophin in Duchenne fetus.
Lancet 1989;2(8673):1212-3.
1989: Egbert Bakker; H Veenema; Johan T den Dunnen; Christine Van Broeckhoven; P M Grootscholten; E J Bonten; Gert-Jan B van Ommen; P L Pearson
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
Journal of medical genetics 1989;26(9):553-9.
1989: L A Blonden; Johan T den Dunnen; H M van Paassen; M C Wapenaar; P M Grootscholten; HB Ginjaar; Egbert Bakker; P L Pearson; Gert-Jan B van Ommen
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.
Nucleic acids research 1989;17(14):5611-21.
1989: M I Skraastad; Egbert Bakker; L F de Lange; Maria Vegter-van der Vlis; E G Klein-Breteler; Gert-Jan B van Ommen; P L Pearson
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: Egbert Bakker; E J Bonten; Johan T den Dunnen; H Veenema; P M Grootscholten; Gert-Jan B van Ommen; P L Pearson
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: Egbert Bakker; E J Bonten; H Veenema; Johan T den Dunnen; P M Grootscholten; Gert-Jan B van Ommen; P L Pearson
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: M C Wapenaar; T Kievits; K A Hart; Stephen Abbs; L A Blonden; Johan T den Dunnen; P M Grootscholten; Egbert Bakker; C Verellen-Dumoulin; Martin Bobrow
A deletion hot spot in the Duchenne muscular dystrophy gene.
Genomics 1988;2(2):101-8.
1987: Gert-Jan B van Ommen; C Bertelson; HB Ginjaar; Johan T den Dunnen; Egbert Bakker; Jamel Chelly; M Matton; Anthonie J van Essen; J Bartley; Louis Kunkel
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: Egbert Bakker; M I Skraastad; Y M Fisser-Groen; Gert-Jan B van Ommen; P L Pearson
Two additional RFLPs at the D4S10 locus, useful for Huntington's disease (HD)-family studies.
Nucleic acids research 1987;15(21):9100.
1987: Johan T den Dunnen; Egbert Bakker; E G Breteler; P L Pearson; Gert-Jan B van Ommen
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.
Nature 1987;329(6140):640-2.
1987: Egbert Bakker; Christine Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; Wim Van Hul; Gert-Jan B van Ommen; Antoon Vandenberghe; P L Pearson
Germline mosaicism and Duchenne muscular dystrophy mutations.
Nature 1987;329(6139):554-6.
1987: N J Carpenter; H Veenema; Egbert Bakker; Marten H Hofker; P L Pearson
A new DNA probe proximal to and closely linked to fragile X.
American journal of medical genetics 1987;27(3):731-2.
1987: H Veenema; N J Carpenter; Egbert Bakker; Marten H Hofker; A M Ward; P L Pearson
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: Marten H Hofker; Arthur A B Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson
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: Egbert Bakker; E J Bonten; L F De Lange; H Veenema; D Majoor-Krakauer; Marten H Hofker; Gert-Jan B van Ommen; P L Pearson
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: Marten H Hofker; Arthur A B Bergen; M I Skraastad; Egbert Bakker; U Francke; B Wieringa; J Bartley; Gert-Jan B van Ommen; P L Pearson
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: Marten H Hofker; M I Skraastad; Arthur A B Bergen; M C Wapenaar; Egbert Bakker; A Millington-Ward; Gert-Jan B van Ommen; P L Pearson
The X chromosome shows less genetic variation at restriction sites than the autosomes.
American journal of human genetics 1986;39(4):438-51.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1985: Marten H Hofker; M C Wapenaar; N Goor; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson
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.