Isaäc J Nijman : rechercher sur Z-Library

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1

Llama heavy-chain V regions consist of at least four distinct subfamilies revealing novel sequence features

Michiel M. Harmsen, Robin C. Ruuls, Isaäc J. Nijman, Theodoor A. Niewold, Leon G.J. Frenken, Bernard de Geus

Journal:

Molecular Immunology

Année:

2000

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2000

2

A systematic genome-wide analysis of zebrafish protein-coding gene function

Kettleborough, Ross N. W., Busch-Nentwich, Elisabeth M., Harvey, Steven A., Dooley, Christopher M., de Bruijn, Ewart, van Eeden, Freek, Sealy, Ian, White, Richard J., Herd, Colin, Nijman, Isaac J., Fé

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2013

3

Dual Origins of Dairy Cattle Farming – Evidence from a Comprehensive Survey of European Y-Chromosomal Variation

Edwards, Ceiridwen J., Ginja, Catarina, Kantanen, Juha, Pérez-Pardal, Lucía, Tresset, Anne, Stock, Frauke, Gama, Luis T., Penedo, M. Cecilia T., Bradley, Daniel G., Lenstra, Johannes A., Nijman, Isaäc

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 689 KB

english, 2011

4

Identification of genetic modifiers of behavioral phenotypes in serotonin transporter knockout rats

Judith Homberg, Isaäc J Nijman, Sylvia Kuijpers, Edwin Cuppen

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2010

5

Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach

Michal Mokry, Isaäc J Nijman, Anja van Dijken, Rene Benjamins, Renze Heidstra, Ben Scheres, Edwin Cuppen

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2011

6

SINE Retrotransposition During the Evolution of the Pecoran Ruminants

Isaäc J. Nijman, Patrick van Tessel, Johannes A. Lenstra

Journal:

Journal of Molecular Evolution

Année:

2002

Langue:

english

Fichier:

PDF, 298 KB

english, 2002

7

Mutation and Recombination in Cattle Satellite DNA: A Feedback Model for the Evolution of Satellite DNA Repeats

Isaäc J. Nijman, Johannes A. Lenstra

Journal:

Journal of Molecular Evolution

Année:

2001

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2001

8

A satellite DNA element specific for roe deer (Capreolus capreolus)

Jacob B. Buntjer, Isaäc J. Nijman, Carla Zijlstra, Johannes A. Lenstra

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 853 KB

english, 1998

9

Genomic DNA Pooling Strategy for Next-Generation Sequencing-Based Rare Variant Discovery in Abdominal Aortic Aneurysm Regions of Interest—Challenges and Limitations

Magdalena Harakalova, Isaäc J. Nijman, Jelena Medic, Michal Mokry, Ivo Renkens, Jan D. Blankensteijn, Wigard Kloosterman, Annette F. Baas, Edwin Cuppen

Journal:

Journal of Cardiovascular Translational Research

Année:

2011

Langue:

english

Fichier:

PDF, 379 KB

english, 2011

10

Phylogeny of Y chromosomes from bovine species

Isaäc J. Nijman, Dick C. J. Van Boxtel, Lisette M. Van Cann, Yindee Marnoch, Edwin Cuppen, Johannes A. Lenstra

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 277 KB

english, 2008

11

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Nijman, Isaäc J, Mokry, Michal, van Boxtel, Ruben, Toonen, Pim, de Bruijn, Ewart, Cuppen, Edwin

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 372 KB

english, 2010

12

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

Harakalova, Magdalena, Mokry, Michal, Hrdlickova, Barbara, Renkens, Ivo, Duran, Karen, van Roekel, Henk, Lansu, Nico, van Roosmalen, Mark, de Bruijn, Ewart, Nijman, Isaac J

Journal:

Nature Protocols

Année:

2011

Langue:

english

Fichier:

PDF, 3.03 MB

english, 2011

13

Pyrosequencing-based comparative genome analysis of the nosocomial pathogenEnterococcus faeciumand identification of a large transferable pathogenicity island

Willem van Schaik, Janetta Top, David R Riley, Jos Boekhorst, Joyce EP Vrijenhoek, Claudia ME Schapendonk, Antoni PA Hendrickx, Isaäc J Nijman, Marc JM Bonten, Hervé Tettelin, Rob JL Willems

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2010

14

The phylogenetic position of theTheileria buffeligroup in relation to otherTheileriaspecies

Marc-Jan Gubbels,Hong Yin,Qi Bai,Guangyuan Liu,Isaäc J. Nijman…

Journal:

Parasitology Research

Année:

2002

Langue:

english

Fichier:

PDF, 98 KB

english, 2002

15

Molecular characterisation of the Theileria buffeli/orientalis group

Marc-Jan Gubbels, Yin Hong, Marjo van der Weide, Bai Qi, Isaäc J Nijman, Liu Guangyuan, Frans Jongejan

Journal:

International Journal for Parasitology

Année:

2000

Langue:

english

Fichier:

PDF, 584 KB

english, 2000

16

Effector identification in the lettuce downy mildew Bremia lactucae by massively parallel transcriptome sequencing

JOOST H. M. STASSEN, MICHAEL F. SEIDL, PIM W. J. VERGEER, ISAÄC J. NIJMAN, BEREND SNEL, EDWIN CUPPEN, GUIDO VAN DEN ACKERVEKEN

Journal:

Molecular Plant Pathology

Année:

2012

Langue:

english

Fichier:

PDF, 715 KB

english, 2012

17

Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals

Ruben van Boxtel, Pim W Toonen, Mark Verheul, Henk S van Roekel, Isaac J Nijman, Victor Guryev, Edwin Cuppen

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 441 KB

english, 2008

18

A genome-wide SNP panel for mapping and association studies in the rat

Isaäc J Nijman, Sylvia Kuipers, Mark Verheul, Victor Guryev, Edwin Cuppen

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 3.09 MB

english, 2008

19

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

Kloosterman, Wigard P, Hoogstraat, Marlous, Paling, Oscar, Tavakoli-Yaraki, Masoumeh, Renkens, Ivo, Vermaat, Joost S, van Roosmalen, Markus J, van Lieshout, Stef, Nijman, Isaac J, Roessingh, Wijnand,

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 3.98 MB

english, 2011

20

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

Liang, Yinming, Cucchetti, Margot, Roncagalli, Romain, Yokosuka, Tadashi, Malzac, Aurélie, Bertosio, Elodie, Imbert, Jean, Nijman, Isaac J, Suchanek, Miloslav, Saito, Takashi, Wülfing, Christoph, Mali

Journal:

Nature Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 983 KB

english, 2013

21

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Nijman, Isaac J., van Montfrans, Joris M., Hoogstraat, Marlous, Boes, Marianne L., van de Corput, Lisette, Renner, Ellen D., van Zon, Patrick, van Lieshout, Stef, Elferink, Martin G., van der Burg, Mi

Journal:

Journal of Allergy and Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 255 KB

english, 2014

22

Genome-wide survey indicates involvement of loci on canine chromosomes 7 and 31 in patellar luxation in flat-coated retrievers

Lavrijsen, Ineke C M, Leegwater, Peter A J, Wangdee, Chalika, van Steenbeek, Frank G, Schwencke, Monique, Breur, Gert J, Meutstege, Freek J, Nijman, Isaac J, Cuppen, Edwin, Heuven, Henri C M, Hazewink

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 350 KB

english, 2014

23

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

de Kovel, Carolien G.F., Meisler, Miriam H., Brilstra, Eva H., van Berkestijn, Frederique M.C., Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J., O’Brien, Janelle E., Hammer, Michael F., Estac

Journal:

Epilepsy Research

Année:

2014

Langue:

english

Fichier:

PDF, 847 KB

english, 2014

24

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

de Koning, Heleen D., van Gijn, Mariëlle E., Stoffels, Monique, Jongekrijg, Johanna, Zeeuwen, Patrick L.J.M., Elferink, Martin G., Nijman, Isaac J., Jansen, Patrick A.M., Neveling, Kornelia, van der M

Journal:

Journal of Allergy and Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 886 KB

english, 2015

25

Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology

Hoogstraat, Marlous, Hinrichs, John W.J., Besselink, Nicolle J.M., Radersma-van Loon, Joyce H., de Voijs, Carmen M.A., Peeters, Ton, Nijman, Isaac J., de Weger, Roel A., Voest, Emile E., Willems, Stef

Journal:

The Journal of Molecular Diagnostics

Année:

2015

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2015

26

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhove

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 624 KB

english, 2015

27

Sambamba: fast processing of NGS alignment formats

Tarasov, Artem, Vilella, Albert J., Cuppen, Edwin, Nijman, Isaac J., Prins, Pjotr

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 85 KB

english, 2015

28

A Hypomorphic Mutation in Lpin1 Induces Progressively Improving Neuropathy and Lipodystrophy in the Rat

Mul, Joram D., Nadra, Karim, Jagalur, Noorjahan B., Nijman, Isaac J., Toonen, Pim W., Médard, Jean-Jacques, Grès, Sandra, de Bruin, Alain, Han, Gil-Soo, Brouwers, Jos F., Carman, George M., Saulnier-B

Journal:

Journal of Biological Chemistry

Année:

2011

Langue:

english

Fichier:

PDF, 4.21 MB

english, 2011

29

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

Harakalova, Magdalena, van der Smagt, Jasper, de Kovel, Carolien G F, van't Slot, Ruben, Poot, Martin, Nijman, Isaac J, Medic, Jelena, Joziasse, Irene, Deckers, Jaap, Roos-Hesselink, Jolien W, Wessels

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2013

30

Discovery of variants unmasked by hemizygous deletions

Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Ha

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 327 KB

english, 2012

31

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhove

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 70 KB

english, 2015

32

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

Massink, Maarten P.G., Créton, Marijn A., Spanevello, Francesca, Fennis, Willem M.M., Cune, Marco S., Savelberg, Sanne M.C., Nijman, Isaäc J., Maurice, Madelon M., van den Boogaard, Marie-José H., van

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 700 KB

english, 2015

33

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Ma

Journal:

Kidney International

Année:

2015

Langue:

english

Fichier:

PDF, 609 KB

english, 2015

34

Mice lacking functional CD95-ligand display reduced proliferation of the intestinal epithelium without gross homeostatic alterations

Trumpi, Kari, Steller, Ernst J. A., de Leng, Wendy W., Raats, Daniëlle A., Nijman, Isaäc J., Morsink, Folkert H. M., Borel Rinkes, Inne H. M., Kranenburg, Onno

Journal:

Medical Molecular Morphology

Année:

2016

Langue:

english

Fichier:

PDF, 2.18 MB

english, 2016

35

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, Dragana J., Monroe, Glen R., Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G., Harakalova, Magdalena, Duran, Karen J., Savelberg, Sanne M.C., Nijman, Isaäc J., Ju

Journal:

Human Molecular Genetics

Année:

2016

Fichier:

PDF, 1.32 MB

2016

36

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, Dragana J., Monroe, Glen R., Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G., Harakalova, Magdalena, Duran, Karen J., Savelberg, Sanne M.C., Nijman, Isaäc J., Ju

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2016

37

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses

Ducro, Bart J., Schurink, Anouk, Bastiaansen, John W. M., Boegheim, Iris J. M., van Steenbeek, Frank G., Vos-Loohuis, Manon, Nijman, Isaac J., Monroe, Glen R., Hellinga, Ids, Dibbits, Bert W., Back, W

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2015

38

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Stokman, Marijn F., Oud, Machteld M., van Binsbergen, Ellen, Slaats, Gisela G., Nicolaou, Nayia, Renkema, Kirsten Y., Nijman, Isaac J., Roepman, Ronald, Giles, Rachel H., Arts, Heleen H., Knoers, Nine

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 353 KB

english, 2016

39

Tissue-specific mutation accumulation in human adult stem cells during life

Blokzijl, Francis, de Ligt, Joep, Jager, Myrthe, Sasselli, Valentina, Roerink, Sophie, Sasaki, Nobuo, Huch, Meritxell, Boymans, Sander, Kuijk, Ewart, Prins, Pjotr, Nijman, Isaac J., Martincorena, Inig

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.97 MB

english, 2016

40

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

Leegwater, Peter A., Vos-Loohuis, Manon, Ducro, Bart J., Boegheim, Iris J., van Steenbeek, Frank G., Nijman, Isaac J., Monroe, Glen R., Bastiaansen, John W. M., Dibbits, Bert W., van de Goor, Leanne H

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2016

41

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, He

Journal:

Molecular Genetics & Genomic Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 392 KB

english, 2016

42

Longitudinal analysis of colon crypt stem cell dynamics in sulindac treated Familial Adenomatous Polyposis patients

Ma, Huiying, Brosens, Lodewijk A. A., Elias, Sjoerd G., Morsink, Folkert H. M., Nijman, Isaac J., Hylind, Linda M., Montgomery, Elizabeth A., Offerhaus, G. Johan A., Giardiello, Francis M., de Leng, W

Journal:

Scientific Reports

Année:

2017

Langue:

english

Fichier:

PDF, 3.91 MB

english, 2017

43

Genetic Etiology of Renal Agenesis: Fine Mapping of Renag1 and Identification of Kit as the Candidate Functional Gene

Samanas, Nyssa Becker, Commers, Tessa W., Dennison, Kirsten L., Harenda, Quincy Eckert, Kurz, Scott G., Lachel, Cynthia M., Wavrin, Kristen Leland, Bowler, Michael, Nijman, Isaac J., Guryev, Victor, C

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.38 MB

english, 2015

44

Assessment of parental mosaicism in SCN1A -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

de Lange, Iris M, Koudijs, Marco J, van ‘t Slot, Ruben, Sonsma, Anja C M, Mulder, Flip, Carbo, Ellen C, van Kempen, Marjan J A, Nijman, Isaac J, Ernst, Robert F, Savelberg, Sanne M C, Knoers, Nine V A

Journal:

Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 485 KB

english, 2018

45

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Hagl, Beate, Spielberger, Benedikt D., Thoene, Silvia, Bonnal, Sophie, Mertes, Christian, Winter, Christof, Nijman, Isaac J., Verduin, Shira, Eberherr, Andreas C., Puel, Anne, Schindler, Detlev, Rulan

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 3.16 MB

english, 2018

46

Species Origin of Milk in Italian Mozzarella and Greek Feta Cheese

BRANCIARI, RAFFAELLA, NIJMAN, ISAÄC J., PLAS, MARTIJN E., DI ANTONIO, ERALDO, LENSTRA, JOHANNES A.

Journal:

Journal of Food Protection

Année:

2000

Langue:

english

Fichier:

PDF, 251 KB

english, 2000

47

Modifier genes in SCN1A ârelated epilepsy syndromes

de Lange, Iris M., Mulder, Flip, Slot, Ruben, Sonsma, Anja C. M., Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.

Journal:

Molecular Genetics & Genomic Medicine

Année:

2020

Fichier:

PDF, 766 KB

2020

48

The role of rare compound heterozygous events in autism spectrum disorder

Lin, Bochao Danae, Colas, Fabrice, Nijman, Isaac J., Medic, Jelena, Brands, William, Parr, Jeremy R., van Eijk, Kristel R., Klauck, Sabine M., Chiocchetti, Andreas G., Freitag, Christine M., Maestrini

Journal:

Translational Psychiatry

Année:

2020

Fichier:

PDF, 831 KB

2020