Výsledky vyhledávání - "Eric F.P.M. Schoenmakers"

Akademický článek

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

Autor: Imke M. Veltman, Joris A. Veltman, Ger Arkesteijn, Irene M. Janssen, Lisenka E. Vissers, Pieter J. de Jong, Ad Geurts van Kessel, Eric F.P.M. Schoenmakers

Publikováno v: BioTechniques, Vol 35, Iss 5, Pp 1066-1070 (2003)

Despite the recent completion of the human genome project, the mapping of disease-related chromosomal translocation breakpoints and genes has remained laborious. Here, we describe a novel and rapid procedure to map such translocation breakpoints usin

Externí odkaz: https://doaj.org/article/1db7e87d00a74ad48b6e523a9ee24e1d

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Identification ofCUX1as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma

Autor: Erik Huys, Patrick Pauwels, Marga Schepens, Maria Debiec-Rychter, B. P. M. Janssen, Eric F.P.M. Schoenmakers, Ad Geurts van Kessel, Gerard Merkx, Lianne Hermers, M. A. S. H. Kersten, Jens Bunt

Publikováno v: Genes, Chromosomes & Cancer, 52, 11-23
Genes, Chromosomes & Cancer, 52, 1, pp. 11-23

Item does not contain fulltext Uterine leiomyomas are benign solid tumors of mesenchymal origin which occur with an estimated incidence of up to 77% of all women of reproductive age. The majority of these tumors remains symptomless, but in about a qu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab29a84f1981d00dfd7d351e220698e
https://doi.org/10.1002/gcc.22001

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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Autor: Merel A.W. Oortveld, Ellen A.W. Blokland, Frans P.M. Cremers, Erik Huys, Jyoti Agrawal, C. Erik van Nouhuys, Dominique Smeets, Eric F.P.M. Schoenmakers, Dorien Lugtenberg, Annette Schenck, Gerard Merkx, Jamie M. Kramer, Arijit Mukhopadhyay, Ad Geurts van Kessel, Hans van Bokhoven

Publikováno v: Human Genetics
Human Genetics, 128, 281-91
Human Genetics, 128, 3, pp. 281-91

Contains fulltext : 88320.pdf (Publisher’s version ) (Closed access) Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e261eabaee4e65e7945e7f215b3b08c
https://doi.org/10.1007/s00439-010-0848-x

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The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer

Autor: Lutgarde Govaerts, Nicoline Hoogerbrugge, Eugène T P Verwiel, Eveline J. Kamping, Eric F.P.M. Schoenmakers, Roland P. Kuiper, Evelyne Lerut, Lilian Vreede, Eamonn R. Maher, Femke van Erp, Anita Bonne, Lianne van Kempen, Maria Debiec-Rychter, Ad Geurts van Kessel, Ramprasath Venkatachalam, Chris Ricketts

Publikováno v: Cancer Genetics and Cytogenetics, 195, 105-11
Cancer Genetics and Cytogenetics, 195, 2, pp. 105-11
Cancer Genetics & Cytogenetics, 195(2), 105-111. Elsevier Inc.

Contains fulltext : 81144.pdf (Publisher’s version ) (Closed access) FBXW7 (alias CDC4) is a p53-dependent tumor suppressor gene that exhibits mutations or deletions in a variety of human tumors. Mutation or deletion of the FBXW7 gene has been asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98f3ec8943b248306adbd06dd28d3c4
https://doi.org/10.1016/j.cancergencyto.2009.07.001

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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

Autor: Donatella Milani, Paola Castronovo, Gaia Roversi, Maura Masciadri, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza, Giuseppe Zampino, Silvia Russo, Angelo Selicorni, Cristina Gervasini

Publikováno v: Clinical Genetics, 74, 6, pp. 531-8
Clinical Genetics, 74, 531-8

Contains fulltext : 71071.pdf (Publisher’s version ) (Closed access) Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by varied clinical signs including facial dysmorphism, pre- and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90163583fe8783a52fe9597fe91349b
https://hdl.handle.net/2066/71071

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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

Autor: Andrew C. Lidral, Kazutoyo Osoegawa, Maria A. Mansilla, Kagistia Hana Utami, W. A. van der Vliet, Eric F.P.M. Schoenmakers, Åke Borg, Jeffrey C. Murray, P. J. De Jong, Marla K. Johnson, Edward J. Lammer, G. M. Vessere, Brian C. Schutte, Rolph Pfundt, Johan Staaf, Bridget M. Riley, Jamie L'Heureux

Publikováno v: Journal of Medical Genetics, 45, 81-6
Journal of Medical Genetics, 45, 2, pp. 81-6

Contains fulltext : 69885.pdf (Publisher’s version ) (Closed access) AIM AND METHOD: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb45c7bc3b8e9e633d8c3bf443fafc24
https://doi.org/10.1136/jmg.2007.052191

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High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression

Autor: Jayne Y. Hehir-Kwa, Peter M. Hoogerbrugge, Eric F.P.M. Schoenmakers, S.V. van Reijmersdal, Roland P. Kuiper, F.N. van Leeuwen, A. Geurts van Kessel

Publikováno v: Leukemia, 21, 1258-66
Leukemia, 21, 6, pp. 1258-66

Contains fulltext : 52698.pdf (Publisher’s version ) (Closed access) Gross cytogenetic anomalies are traditionally being used as diagnostic, prognostic and therapeutic markers in the clinical management of cancer, including childhood acute lymphobl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d9bccd3da50d83244d7e51f16d9d87
https://doi.org/10.1038/sj.leu.2404691

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Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

Autor: Hans Stoop, J. Wolter Oosterhuis, Joris A. Veltman, Brenda Summersgill, H. Berna Beverloo, Ad J. M. Gillis, Rolph Pfundt, Ellen van Drunen, Alan McIntyre, Ruud J.H.L.M. van Gurp, Peter J. van der Spek, Ad Geurts van Kessel, Remko Hersmus, Renee Reijo Pera, Eric F.P.M. Schoenmakers, Leendert H. J. Looijenga, Janet Shipley, Dominik T. Schneider

Publikováno v: Cancer Research, 66(1), 290-302. American Association for Cancer Research Inc.
Cancer Research, 66, 290-302
Cancer Research, 66, 1, pp. 290-302

Contains fulltext : 50081.pdf (Publisher’s version ) (Closed access) Spermatocytic seminomas are solid tumors found solely in the testis of predominantly elderly individuals. We investigated these tumors using a genome-wide analysis for structural

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e52aeefd704f0f79b093856caf014a
https://hdl.handle.net/2066/50081

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Heterogeneity of structural abnormalities in the 7q31.3∼q34 region in myeloid malignancies

Autor: Norma C. Gutiérrez, Jesús F. San Miguel, M. Jose Calasanz, Eric F.P.M. Schoenmakers, Francesc Solé, M. Belén González, Juan Luis García, Jesús M. Hernández

Publikováno v: Cancer Genetics and Cytogenetics. 150:136-143

Abnormalities in the long arm of chromosome 7 are a frequent chromosomal aberration in myeloid disorders. Most studies have focused on the analysis of del(7q), demonstrating the presence of several minimal deleted regions in 7q22 approximately q31. B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b78e7c862be97403c3b97e270bd69989
https://doi.org/10.1016/j.cancergencyto.2003.08.019

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Endometrial stromal sarcoma presenting as postpartum haemorrhage: report of a case with a sole t(10;17)(q22;p13) translocation

Autor: Karin Leunen, Romaric Croes, Anne Hagemeijer, Eric F.P.M. Schoenmakers, Frédéric Amant, Maria Debiec-Rychter, Ignace Vergote

Publikováno v: Gynecologic Oncology, 91, 1, pp. 265-71
Gynecologic oncology, 91(1), 265-271. Academic Press Inc.
Gynecologic Oncology, 91, 265-71

Item does not contain fulltext BACKGROUND: Although the clinical picture of endometrial stromal sarcoma (ESS) is variable, it was never reported to present as a postpartum hemorrhage. In addition, ESS is a tumor type of which, due to its rarity, litt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3738fd589d2ab3b2e9457fce1fc8e7
https://doi.org/10.1016/s0090-8258(03)00477-3

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