Zobrazeno 1 - 10 of 18 pro vyhledávání: '"Translocation, Genetic genetics"'
1
Synovial sarcoma: when epigenetic changes dictate tumour development
Autor: Riggi, N., Cironi, L., Stamenkovic, I.
Publikováno v: Swiss medical weekly, vol. 148, pp. w14667
Synovial sarcoma is a highly aggressive soft tissue malignancy that often affects adolescents and young adults. It is associated with a unique chromosomal translocation that results in the formation and expression of the fusion gene SS18-SSX, which u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1900::0b45e49b98ac3431df9362c629eef7cf
https://serval.unil.ch/resource/serval:BIB_9F54855F01B8.P001/REF.pdf
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2
Reorganization of inter‐ chromosomal interactions in the 2q37‐deletion syndrome
Autor: A. Rasim Barutcu, Laura Pölsler, Yvette Wefeld-Neuenfeld, Philipp G. Maass, Atakan Aydin, Katharina Rittscher, Thomas Liehr, Julia Lichtenwald, Sigrid Tinschert, Sylvia Bähring, Anja Weise, Friedrich C. Luft, John L. Rinn
Publikováno v: The EMBO Journal. 37
Chromosomes occupy distinct interphase territories in the three-dimensional nucleus. However, how these chromosome territories are arranged relative to one another is poorly understood. Here, we investigated the inter-chromosomal interactions between
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95b0d29c3b3acb595fda03dee414610f
https://doi.org/10.15252/embj.201696257
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5
Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and P300 Findings in a Family
Autor: Walter J. Muir, D St Clair, Douglas Blackwood, M. Walker, David J. Porteous, A. Fordyce
Publikováno v: Blackwood, D H, Fordyce, A, Walker, M T, St Clair, D M, Porteous, D J & Muir, W J 2001, ' Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family ', American Journal of Human Genetics, vol. 69, no. 2, pp. 428-433 . https://doi.org/10.1086/321969
A family with a (1;11)(q42;q14.3) translocation significantly linked to a clinical phenotype that includes schizophrenia and affective disorders is described. This translocation generates a LOD score of 3.6 when the disease phenotype is restricted to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391b5e0455f668cae0d1ce4071dc47f4
https://doi.org/10.1086/321969
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6
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations
Autor: Koen Devriendt, Jean-Pierre Fryns, Lieven Lagae, Peter Marynen, Maria Syrrou, Suzanna G M Frints
Publikováno v: Annales de Génétique. 44:71-76
We report clinical and molecular investigations in a boy with karyotype 46,Y,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter) and his mother with karyotype 46,X,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter). Haplo-insufficiency for the Xp22.3-->pter chromosomal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7259d7b24a39629f2e85bcfa6552706
https://doi.org/10.1016/s0003-3995(01)01071-1
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7
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
Autor: Dagmar Wieczorek, Thomy de Ravel, Tjitske Kleefstra, Nathalie Van der Aa, Chris Van Geet, Koen Devriendt, An Crepel, Anita Rauch, Peter Leemans, Kathleen Freson, Christophe Goubau, Gunnar Buyse, Andreas Tzschach, Marjolein H. Willemsen
Publikováno v: European Journal of Human Genetics, 21, 12, pp. 1349-55
European journal of human genetics
European Journal of Human Genetics, 21, 1349-55
The Forkhead box G1 (FOXG1) gene encodes a transcriptional repressor essential for early development of the telencephalon. Intragenic mutations and gene deletions leading to haploinsufficiency cause the congenital variant of Rett syndrome. We here de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a3e5cefae23ab4189d9c050e9fca13
https://www.ncbi.nlm.nih.gov/pubmed/23632790
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8
Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation
Autor: Gulseren Bagci, Gokhan Ozan Cetin, Nur Semerci, Gokce Altay Toruner, Mine Cinbiş
Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome tr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7906142528f4d9eebceac2399ad8a46b
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/21132
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9
Karyotyping, FISH, and PCR in acute lymphoblastic leukemia: competing or complementary diagnostics?
Autor: Louise R.A. Olde Nordkamp, Clemens Mellink, Henk van den Berg, Ellen van der Schoot
Publikováno v: Journal of pediatric hematology/oncology, 31(12), 930-5. Lippincott Williams and Wilkins
Journal of pediatric hematology/oncology, 31(12), 930-935. Lippincott Williams and Wilkins
BACKGROUND: Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. Accurate an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::856ac24184dc43eba31a097f38bf794c
https://pubmed.ncbi.nlm.nih.gov/19875970
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