نتائج البحث - "Dunnen, JT"

71

دورية أكاديمية

Nutrigenomics: The impact of biomics technology on nutrition research

المؤلفون: Corthesy-Theulaz, I, den Dunnen, JT, Ferre, P, Geurts, JMW, Muller, M., van Belzen, N, van Ommen, B

المساهمون: UCL

المصدر: Annals of Nutrition and Metabolism : European journal of nutrition, metabolic diseases and dietetics, Vol. 49, no. 6, p. 355-365 (2005)

مصطلحات موضوعية: genomics, transcriptomics, proteomics, metabolomics, systems biology

العلاقة: boreal:38938; http://hdl.handle.net/2078.1/38938Test; urn:ISSN:0250-6807; urn:EISSN:1421-9697

الإتاحة: https://doi.org/10.1159/000088315Test
http://hdl.handle.net/2078.1/38938Test

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72

دورية أكاديمية

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

المؤلفون: Hofstra, RMW, Mulder, IM, Vossen, R, de Koning-Gans, PAM, Kraak, M, Ginjaar, IB, van der Hout, AH, Bakker, E, Buys, CHCM, van Essen, AJ, den Dunnen, JT

المصدر: Hofstra , RMW , Mulder , IM , Vossen , R , de Koning-Gans , PAM , Kraak , M , Ginjaar , IB , van der Hout , AH , Bakker , E , Buys , CHCM , van Essen , AJ & den Dunnen , JT 2004 , ' DGGE based whole-gene mutation scanning of the dystrophlin gene in Duchenne and Becker muscular dystrophy patients ' , Human Mutation , vol. 23 , no. 1 , pp. 57-66 . https://doi.org/10.1002/humu.10283Test

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, Becker muscular dystrophy, BMD, dystrophin, mutation scanning, DGGE, PROTEIN TRUNCATION TEST, GRADIENT GEL-ELECTROPHORESIS, TRANSLATION-TERMINATING MUTATIONS, MESSENGER-RNA DECAY, POINT MUTATIONS, DMD-GENE, NONSENSE MUTATION, GLYCOPROTEIN COMPLEX, TEST PTT, DELETIONS

العلاقة: https://research.rug.nl/en/publications/2876f929-9b1e-45ed-a406-a309609a0a52Test

الإتاحة: https://doi.org/10.1002/humu.10283Test
https://hdl.handle.net/11370/2876f929-9b1e-45ed-a406-a309609a0a52Test
https://research.rug.nl/en/publications/2876f929-9b1e-45ed-a406-a309609a0a52Test

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73

دورية أكاديمية

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

المؤلفون: van Essen, AJ, Mulder, IM, van der Vlies, P, van der Hout, AH, Buys, CHCM, Hofstra, RMW, den Dunnen, JT

المصدر: van Essen , AJ , Mulder , IM , van der Vlies , P , van der Hout , AH , Buys , CHCM , Hofstra , RMW & den Dunnen , JT 2003 , ' Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy ' , American Journal of Medical Genetics. Part A , vol. 118A , no. 3 , pp. 296-298 . https://doi.org/10.1002/ajmg.a.10056Test

مصطلحات موضوعية: LETHAL OSTEOGENESIS IMPERFECTA, DMD GENE, GERMINAL MOSAICISM, PARENTAL MOSAICISM, I COLLAGEN, CDNA, RECURRENCE, DELETIONS, IDENTIFICATION, HYBRIDIZATION

العلاقة: https://research.rug.nl/en/publications/3aa4b2d1-d052-4127-a654-9a4f91d143dcTest

الإتاحة: https://doi.org/10.1002/ajmg.a.10056Test
https://hdl.handle.net/11370/3aa4b2d1-d052-4127-a654-9a4f91d143dcTest
https://research.rug.nl/en/publications/3aa4b2d1-d052-4127-a654-9a4f91d143dcTest

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74

Exon Trapping: Application of a Large-Insert Multiple-Exon-Trapping System

المؤلفون: Den Dunnen Jt, Wapenaar Mc

مصطلحات موضوعية: chemistry.chemical_compound, Exon, Exon trapping, chemistry, Computational biology, Biology, DNA, Insert (molecular biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75f1ac5925ec7ddf65b3f0329e71deb3Test
https://doi.org/10.1385/1-59259-235-x:201Test

75

دورية أكاديمية

An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1 region implicated in neuroblastoma pathogenesis.

المؤلفون: SPIEKER, N, BEITSMA, M, VAN SLUIS, P, ROOBEEK, I, DEN DUNNEN, JT, Speleman, Franki, CARON, H, VERSTEEG, R

المصدر: GENES CHROMOSOMES & CANCER ; ISSN: 1045-2257

مصطلحات موضوعية: Medicine and Health Sciences

العلاقة: https://biblio.ugent.be/publication/126993Test; http://hdl.handle.net/1854/LU-126993Test

الإتاحة: https://biblio.ugent.be/publication/126993Test
http://hdl.handle.net/1854/LU-126993Test

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76

دورية أكاديمية

The human genome project and the future of diagnostics, treatment, and prevention

المؤلفون: van Ommen, GJB, Bakker, E, den Dunnen, JT

المصدر: The Lancet ; volume 354, page S5-S10 ; ISSN 0140-6736

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/s0140-6736Test(99)90241-6
https://api.elsevier.com/content/article/PII:S0140673699902416?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0140673699902416?httpAccept=text/plainTest

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77

دورية أكاديمية

Recommendations for a nomenclature system for human gene mutations

مصطلحات موضوعية: Terminology as Topic, Genes, Humans, Mutation

العلاقة: Human Mutation; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0005059781&selection=ref&src=s&origin=recordpageTest; Human Mutation, 1998, v. 11 n. 1, p. 1-3; WOS:000071288300001; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=11&issue=1&spage=1&epage=3&atitle=Recommendations+for+a+nomenclature+system+for+human+gene+mutationsTest; 9450896; eid_2-s2.0-0031612929; http://hdl.handle.net/10722/143608Test; 11

الإتاحة: https://doi.org/10.1002Test/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=11&issue=1&spage=1&epage=3&atitle=Recommendations+for+a+nomenclature+system+for+human+gene+mutationsTest
http://hdl.handle.net/10722/143608Test

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النص الكامل

78

[7] Cosmid-based exon trapping

المؤلفون: den Dunnen Jt

مصطلحات موضوعية: Exon, Exon trapping, cDNA library, Complementary DNA, Cosmid, Genomic library, Biology, Molecular biology, Gene, Reverse transcriptase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43c51aced7e1ae84702abdc994859315Test
https://doi.org/10.1016/s0076-6879Test(99)03009-8

79

دورية أكاديمية

RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST

المؤلفون: Hogervorst, FBL, Cornelis, RS, Bout, M, van Vliet, M, Oosterwijk, JC, Olmer, R, Bakker, B, Klijn, JGM, Vasen, HFA, Meijers Heijboer, H, Menko, FH, Cornelisse, CJ, den Dunnen, JT, Devilee, P, van Ommen, GJB

المصدر: Hogervorst , FBL , Cornelis , RS , Bout , M , van Vliet , M , Oosterwijk , JC , Olmer , R , Bakker , B , Klijn , JGM , Vasen , HFA , Meijers Heijboer , H , Menko , FH , Cornelisse , CJ , den Dunnen , JT , Devilee , P & van Ommen , GJB 1995 , ' RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST ' , Nature Genetics , vol. 10 , no. 2 , pp. 208-212 .

مصطلحات موضوعية: FAMILIAL BREAST, LINKAGE, CANCER

العلاقة: https://research.rug.nl/en/publications/ff51876d-2987-46ad-a1bd-001dcfcb7973Test

الإتاحة: https://hdl.handle.net/11370/ff51876d-2987-46ad-a1bd-001dcfcb7973Test
https://research.rug.nl/en/publications/ff51876d-2987-46ad-a1bd-001dcfcb7973Test

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80

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

المؤلفون: Cotton, RGH, Auerbach, AD, Brown, AF, Carrera, P, Christodoulou, J, Claustre, M, Compton, J, Cox, DW, De Baere, Elfride, den Dunnen, JT, Greenblatt, M, Fujiwara, M, Hilbert, P, Jani, A, Lehvaslaiho, H, Nebert, DW, Verma, I, Vihinen, M

المصدر: HUMAN MUTATION ; ISSN: 1059-7794

مصطلحات موضوعية: Biology and Life Sciences, mutation, variome, recommendations, genotype, phenotype

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/2054844Test; http://hdl.handle.net/1854/LU-2054844Test; http://dx.doi.org/10.1002/humu.20631Test; https://biblio.ugent.be/publication/2054844/file/2054888Test

الإتاحة: https://doi.org/10.1002/humu.20631Test
https://biblio.ugent.be/publication/2054844Test
http://hdl.handle.net/1854/LU-2054844Test
https://biblio.ugent.be/publication/2054844/file/2054888Test

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