المؤلفون: Bhola, Shama L., Nieuwint, Aggie W. M., Stuurman, Kyra E.

المصدر: Bhola , S L , Nieuwint , A W M & Stuurman , K E 2018 , ' A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH ' , Clinical case reports , vol. 6 , no. 7 , pp. 1313-1316 . https://doi.org/10.1002/ccr3.1563

الاتاحة: https://research.vumc.nl/en/publications/95f76d1c-4d0e-4772-85cd-8d6fbceecc70
https://doi.org/10.1002/ccr3.1563
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85049274212&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/29988599

المؤلفون: Beunders, Gea, van de Kamp, Jiddeke M, Veenhoven, Reinier H, van Hagen, Johanna M, Nieuwint, Aggie W M, Sistermans, Erik A

مصطلحات موضوعية: Letter to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/47/4/271; http://dx.doi.org/10.1136/jmg.2009.070490

الاتاحة: http://jmg.bmj.com/cgi/content/short/47/4/271
https://doi.org/10.1136/jmg.2009.070490

المؤلفون: van Rhenen, A, Moshaver, B, Kelder, A, Feller, N, Nieuwint, A W M, Zweegman, S, Ossenkoppele, G J, Schuurhuis, G J

المصدر: Leukemia ; volume 21, issue 8, page 1700-1707 ; ISSN 0887-6924 1476-5551

الاتاحة: http://dx.doi.org/10.1038/sj.leu.2404754
https://www.nature.com/articles/2404754.pdf
https://www.nature.com/articles/2404754

المؤلفون: NIEUWINT, A W M, VAN HAGEN, J M, HEINS, Y M, MADAN, K, TEN KATE, L P

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/37/6/e4; http://dx.doi.org/10.1136/jmg.37.6.e4

الاتاحة: http://jmg.bmj.com/cgi/content/short/37/6/e4
https://doi.org/10.1136/jmg.37.6.e4

المؤلفون: Braakhuis, Boudewijn J. M., Nieuwint, Aggie W. M., Oostra, Anneke B., Joenje, Hans, Flach, Geke B., Graveland, A. Peggy, Brakenhoff, Ruud H., Leemans, C. Rene

المصدر: Braakhuis , B J M , Nieuwint , A W M , Oostra , A B , Joenje , H , Flach , G B , Graveland , A P , Brakenhoff , R H & Leemans , C R 2016 , ' Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma ' , Journal of Oral Pathology and Medicine , vol. 45 , no. 3 , pp. 189-192 . https://doi.org/10.1111/jop.12349

الاتاحة: https://research.vumc.nl/en/publications/dea17924-2916-45c1-b8e1-26469bc0bbcd
https://doi.org/10.1111/jop.12349

المؤلفون: Nota, Benjamin, Struys, Eduard A, Pop, Ana, Jansen, Erwin E, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, Kranendijk, Martijn, van Dooren, Silvy J M, Bevova, Marianna R, Sistermans, Erik A, Nieuwint, Aggie W M, Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F, de Lonlay, Pascale, McDonald, Marie T, Meberg, Alf, Muntau, Ania C, Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, Van Schaftingen, Emile, van der Knaap, Marjo S, Jakobs, Cornelis, Salomons, Gajja S

المساهمون: UCL - SSS/DDUV - Institut de Duve

المصدر: American Journal of Human Genetics, Vol. 92, no.4, p. 627-31 (2013)

مصطلحات موضوعية: Amino Acid Sequence, Female, Fibroblasts, Genes, Recessive, Glutarates, Humans, Male, Mitochondria, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Anion Transport Proteins, Phenotype, Protein Structure, Tertiary, Retrospective Studies, Sequence Homology, Amino Acid, Stereoisomerism, Tandem Mass Spectrometry, Biological Markers, Brain Diseases, Metabolic, Inborn, Case-Control Studies, Cells, Cultured, Chromatography, Liquid

Relation: boreal:130105; http://hdl.handle.net/2078.1/130105; info:pmid/23561848; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الاتاحة: http://hdl.handle.net/2078.1/130105
https://doi.org/10.1016/j.ajhg.2013.03.009

المؤلفون: Stoepker, Chantal, Hain, Karolina, Schuster, Beatrice, Hilhorst-Hofstee, Yvonne, Rooimans, Martin A., Steltenpool, Jurgen, Oostra, Anneke B., Eirich, Katharina, Korthof, Elisabeth T., Nieuwint, Aggie W. M., Jaspers, Nicolaas G. J., Bettecken, Thomas, Joenje, Hans, Schindler, Detlev, Rouse, John, de Winter, Johan P.

المصدر: Stoepker , C , Hain , K , Schuster , B , Hilhorst-Hofstee , Y , Rooimans , M A , Steltenpool , J , Oostra , A B , Eirich , K , Korthof , E T , Nieuwint , A W M , Jaspers , N G J , Bettecken , T , Joenje , H , Schindler , D , Rouse , J & de Winter , J P 2011 , ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ' , Nature Genetics , vol. 43 , no. 2 ....

Relation: https://discovery.dundee.ac.uk/en/publications/f22eab22-9229-4c42-84f3-ce70f75b383b

الاتاحة: https://discovery.dundee.ac.uk/en/publications/f22eab22-9229-4c42-84f3-ce70f75b383b
https://doi.org/10.1038/ng.751
http://www.scopus.com/inward/record.url?scp=79251632658&partnerID=8YFLogxK

المؤلفون: Roij, M. H. H., Nellist, M., Wijnaendts, L. C. D., Groothoff, J. W., Bokenkamp, A., Gertjan Kaspers, Nieuwint, A. W. M., Sistermans, E. A., Hagen, J. M.

المساهمون: Clinical genetics, Pathology, Pediatrics, CCA - Disease profiling

المصدر: van Roij, M H H, Nellist, M, Wijnaendts, L C D, Groothoff, J W, Bokenkamp, A, Kaspers, G J L, Nieuwint, A W M, Sistermans, E A & van Hagen, J M 2009, ' Genetic and immunohistochemical analysis in a case of pleuropulmonary blastoma with renal tumor and small bowel polyps: Activation of the mToR signalling pathway ', Pediatric Nephrology, vol. 24, no. 4, pp. 904-905 .
Pediatric Nephrology, 24(4), 904-905. Springer Verlag
Publons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3b461991e7d5fd4f0288cceb92520375
https://research.vumc.nl/en/publications/75c5091d-c91b-49d9-8c9e-255b74e371b3

المؤلفون: de Ru, M H, Gille, J J P, Nieuwint, A W M, Bijlsma, J B, van der Blij, J F, van Hagen, J M

المصدر: de Ru , M H , Gille , J J P , Nieuwint , A W M , Bijlsma , J B , van der Blij , J F & van Hagen , J M 2005 , ' Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay : clinical report and review of the literature ' , American Journal of Medical Genetics Part A , vol. 137 , no. 1 , pp. 81-7 . https://doi.org/10.1002/ajmg.a.30786

Relation: https://research.vumc.nl/en/publications/33e88c36-3f7d-4dee-8303-0b664565b4cd

الاتاحة: https://research.vumc.nl/en/publications/33e88c36-3f7d-4dee-8303-0b664565b4cd
https://doi.org/10.1002/ajmg.a.30786

المؤلفون: Westers, Theresia M., Stam, Anita G. M., Scheper, Rik J., Regelink, Johanna C., Nieuwint, Aggie W. M., Schuurhuis, Gerrit Jan, van de Loosdrecht, Arjan A., Ossenkoppele, Gert J.

المصدر: Cancer Immunology, Immunotherapy ; volume 52, issue 8, page 523-524 ; ISSN 0340-7004 1432-0851

الاتاحة: https://doi.org/10.1007/s00262-003-0397-4
https://link.springer.com/content/pdf/10.1007/s00262-003-0397-4.pdf
https://link.springer.com/article/10.1007/s00262-003-0397-4/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00262-003-0397-4

المؤلفون: Ikeda, H., Matsushita, M., Quinten Waisfisz, Kinoshita, A., Oostra, A. B., Nieuwint, A. W. M., Winter, J. P., Hoatlin, M. E., Kawai, Y., Sasaki, M. S., D Andrea, A. D., Kawakami, Y., Joenje, H.

المساهمون: Human genetics, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers

المصدر: Cancer Research, 63(10), 2688-2694. American Association for Cancer Research Inc.
Scopus-Elsevier
Ikeda, H, Matsushita, M, Waisfisz, Q, Kinoshita, A, Oostra, AB, Nieuwint, AWM, de Winter, JP, Hoatlin, ME, Kawai, Y, Sasaki, MS, D'Andrea, AD, Kawakami, Y & Joenje, H 2003, ' Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2 ', Cancer Research, vol. 63, no. 10, pp. 2688-2694 .

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1215682ab96b2aeda32749abd94eb458
https://research.vumc.nl/en/publications/17cd11c8-28e8-4424-b41f-6625ef551e6e

المؤلفون: Nieuwint, A. W. M., Aubry, J. M., Arwert, F., Kortbeek, H., Herzberg, S., Joenje, H.

المصدر: Free Radical Research Communications ; volume 1, issue 1, page 1-9 ; ISSN 8755-0199

الاتاحة: http://dx.doi.org/10.3109/10715768509056532
http://www.tandfonline.com/doi/pdf/10.3109/10715768509056532

المؤلفون: Lafleur, M. V. M., Nieuwint, A. W. M., Aubry, J. M., Kortbeek, H., Arwert, F., Joenje, H.

المصدر: Free Radical Research Communications ; volume 2, issue 4-6, page 343-350 ; ISSN 8755-0199

الاتاحة: http://dx.doi.org/10.3109/10715768709065301
http://www.tandfonline.com/doi/pdf/10.3109/10715768709065301

المؤلفون: Madan, K., Nieuwint, A. W. M., van Bever, Y.

المصدر: Human Genetics ; volume 99, issue 6, page 806-815 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s004390050453
http://link.springer.com/content/pdf/10.1007/s004390050453.pdf
http://link.springer.com/article/10.1007/s004390050453/fulltext.html
http://link.springer.com/content/pdf/10.1007/s004390050453

المؤلفون: Oostra, Anneke B.¹, Nieuwint, Aggie W. M.¹, Joenje, Hans¹, De Winter, Johan P.¹ j.dewinter@vumc.nl

المصدر: Anemia (20901267). 2012, p1-9. 9p. 1 Diagram, 1 Chart, 1 Graph.

مصطلحات موضوعية: *FANCONI'S anemia, *DEVELOPMENTAL disabilities, *CHROMOSOME abnormalities, *SYMPTOMS, *BONE marrow diseases, *CANCER risk factors, *SHORT stature, *CELL cycle, *DIAGNOSIS

المؤلفون: Willemsen, M. H., Beunders, G., Callaghan, M., de Leeuw, N., Nillesen, W. M., Yntema, H. G., van Hagen, J. M., Nieuwint, A. W. M., Morrison, N., Keijzers-Vloet, S. T. M., Hoischen, A., Brunner, H. G., Tolmie, J., Kleefstra, T.

المصدر: Clinical Genetics; Jul2011, Vol. 80 Issue 1, p31-38, 8p, 2 Black and White Photographs, 1 Diagram, 1 Graph

مصطلحات موضوعية: GENETIC disorders, CHROMOSOME abnormalities, MOSAICISM, FLUORESCENCE in situ hybridization, CHROMOSOMAL translocation, GENETICS

المؤلفون: Menko, F. H., Kneepkens, C. M. F., De Leeuw, N., Peeters, E. A. J., Van Maldergem, L., Kamsteeg, E. J., Davidson, R., Rozendaal, L., Lasham, C. A., Peeters-Scholte, C. M. P., Jansweijer, M. C., Hilhorst-Hofstee, Y., Gille, J. J. P., Heins, Y. M., Nieuwint, A. W. M., Sistermans, E. A.

المصدر: Clinical Genetics; Aug2008, Vol. 74 Issue 2, p145-154, 10p, 1 Color Photograph, 2 Charts, 3 Graphs

مصطلحات موضوعية: GASTROINTESTINAL system abnormalities, GENOTYPE-environment interaction, GENETIC polymorphisms, POLYPS, RARE diseases, MEDICAL research

المؤلفون: van Rhenen, A., Moshaver, B., Kelder, A., Feller, N., Nieuwint, A. W. M., Zweegman, S., Ossenkoppele, G. J., Schuurhuis, G. J.

المصدر: Leukemia (08876924); Aug2007, Vol. 21 Issue 8, p1700-1707, 8p, 5 Charts, 4 Graphs

مصطلحات موضوعية: ACUTE myeloid leukemia, STEM cells, BONE marrow diseases, DRUG therapy, CANCER diagnosis, BIOMARKERS, DISEASES

المؤلفون: Xie, Yan, de Winter, Johan P., Waisfisz, Quinten, Nieuwint, Aggie W. M., Scheper, Rik J., Arwert, Fré, Hoatlin, Maureen E., Ossenkoppele, Gert Jan, Schuurhuis, Gerrit-Jan, Joenje, Hans

المصدر: British Journal of Haematology; Dec2000, Vol. 111 Issue 4, p1057-1064, 8p, 7 Diagrams

مصطلحات موضوعية: ACUTE myeloid leukemia, FANCONI'S anemia, CELL lines

المؤلفون: Janssen, J J W M, van Rijn, R S, van der Holt, B, Schuurhuis, G-J, Vellenga, E, Verhoef, G E G, Ossenkoppele, G J, van den Berg, E, Hagemeijer, A, Släter, R, Nieuwint, A W M, Cornelissen, J J

المصدر: Bone Marrow Transplantation; 6/1/2000, Vol. 25 Issue 11, p1147, 9p

مصطلحات موضوعية: DRUG therapy, STEM cells, CELL transplantation