Marques B - Search Results

1

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

David D, Marques B, Ferreira C, Araújo C, Vieira L, Soares G, Dias C, Pinto M. David D, et al. Among authors: marques b. Hum Genet. 2013 Nov;132(11):1287-99. doi: 10.1007/s00439-013-1333-0. Epub 2013 Jul 9. Hum Genet. 2013. PMID: 23835950

2

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly.

David D, Cardoso J, Marques B, Marques R, Silva ED, Santos H, Boavida MG. David D, et al. Among authors: marques b, marques r. Genomics. 2003 May;81(5):489-503. doi: 10.1016/s0888-7543(03)00046-6. Genomics. 2003. PMID: 12706107

3

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

David D, Marques B, Ferreira C, Vieira P, Corona-Rivera A, Ferreira JC, van Bokhoven H. David D, et al. Among authors: marques b. Eur J Hum Genet. 2009 Aug;17(8):1024-33. doi: 10.1038/ejhg.2009.2. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223936 Free PMC article.

4

Three-way translocation involves MLL, MLLT3, and a novel cell cycle control gene, FLJ10374, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3).

Vieira L, Sousa AC, Matos P, Marques B, Alaiz H, Ribeiro MJ, Braga P, da Silva MG, Jordan P. Vieira L, et al. Among authors: marques b. Genes Chromosomes Cancer. 2006 May;45(5):455-69. doi: 10.1002/gcc.20311. Genes Chromosomes Cancer. 2006. PMID: 16450356

5

Translocation (8;17;15;21)(q22;q23;q15;q22) in acute myeloid leukemia (M2). a four-way variant of t(8;21).

Vieira L, Oliveira V, Ambrósio AP, Marques B, Pereira AM, Hagemeijer A, Boavida MG. Vieira L, et al. Among authors: marques b. Cancer Genet Cytogenet. 2001 Jul 15;128(2):104-7. doi: 10.1016/s0165-4608(01)00404-6. Cancer Genet Cytogenet. 2001. PMID: 11463447

6

SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.

Fino J, Marques B, Dong Z, David D. Fino J, et al. Among authors: marques b. Front Genet. 2021 Dec 1;12:757170. doi: 10.3389/fgene.2021.757170. eCollection 2021. Front Genet. 2021. PMID: 34925449 Free PMC article.

7

Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.

Fino J, Marques B, Dong Z, David D. Fino J, et al. Among authors: marques b. Front Genet. 2022 Feb 25;13:868306. doi: 10.3389/fgene.2022.868306. eCollection 2022. Front Genet. 2022. PMID: 35281799 Free PMC article.

8

Molecular cytogenetic characterization of rearrangements involving 12p in leukemia.

Vieira L, Marques B, Cavaleiro C, Ambrósio AP, Jorge M, Neto A, Costa JM, Júnior EC, Boavida MG. Vieira L, et al. Among authors: marques b. Cancer Genet Cytogenet. 2005 Mar;157(2):134-9. doi: 10.1016/j.cancergencyto.2004.08.013. Cancer Genet Cytogenet. 2005. PMID: 15721634

9

Three-way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicates NFATC2 in dysregulation of CSF2 expression and megakaryocyte proliferation.

Vieira L, Vaz A, Matos P, Ambrósio AP, Nogueira M, Marques B, Pereira AM, Jordan P, da Silva MG. Vieira L, et al. Among authors: marques b. Genes Chromosomes Cancer. 2012 Dec;51(12):1093-108. doi: 10.1002/gcc.21994. Epub 2012 Aug 22. Genes Chromosomes Cancer. 2012. PMID: 22911897

10

Discordant chromosome placental mosaicism in a dichorionic twin pregnancy.

Silva M, Caetano P, Olival V, Alves C, Simão L, Ferreira C, Marques B, Furtado J, Ventura C, Soares S, Correia H. Silva M, et al. Among authors: marques b. Am J Med Genet A. 2013 Jun;161A(6):1498-500. doi: 10.1002/ajmg.a.35902. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633424 No abstract available.

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