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Refinado por: assunto: Chromosomes remover assunto: Cytogenetics remover assunto: Karyotyping remover
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1
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Faucett, W. Andrew ; Feuk, Lars ; Friedman, Jan M. ; Hamosh, Ada ; Jackson, Laird ; Kaminsky, Erin B. ; Kok, Klaas ; Krantz, Ian D. ; Kuhn, Robert M. ; Lee, Charles ; Ostell, James M. ; Rosenberg, Carla ; Scherer, Stephen W. ; Spinner, Nancy B. ; Stavropoulos, Dimitri J. ; Tepperberg, James H. ; Thorland, Erik C. ; Vermeesch, Joris R. ; Waggoner, Darrel J. ; Watson, Michael S. ; Martin, Christa Lese ; Ledbetter, David H.

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma
Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma
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Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma

Panagopoulos, Ioannis ; Gorunova, Ludmila ; Viset, Trond ; Heim, Sverre

Oncology reports, 2016-11, Vol.36 (5), p.2455-2462 [Periódico revisado por pares]

Greece: D.A. Spandidos

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3
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
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Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Koczkowska, Magdalena ; Wierzba, Jolanta ; Śmigiel, Robert ; Sąsiadek, Maria ; Cabała, Magdalena ; Ślężak, Ryszard ; Iliszko, Mariola ; Kardaś, Iwona ; Limon, Janusz ; Lipska-Ziętkiewicz, Beata S.

Journal of applied genetics, 2017-02, Vol.58 (1), p.93-98 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

Lu, Xinyan ; Shaw, Chad A ; Patel, Ankita ; Li, Jiangzhen ; Cooper, M Lance ; Wells, William R ; Sullivan, Cathy M ; Sahoo, Trilochan ; Yatsenko, Svetlana A ; Bacino, Carlos A ; Stankiewicz, Pawel ; Ou, Zhishu ; Chinault, A Craig ; Beaudet, Arthur L ; Lupski, James R ; Cheung, Sau W ; Ward, Patricia A Chakravarti, Aravinda

PloS one, 2007-03, Vol.2 (3), p.e327-e327 [Periódico revisado por pares]

United States: Public Library of Science

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5
Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas
Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas
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Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas

BERTRAND, P ; BASTARD, C ; MAINGONNAT, C ; JARDIN, F ; MAISONNEUVE, C ; COUREL, M.-N ; RUMINY, P ; PICQUENOT, J.-M ; TILLY, H

Leukemia, 2007-03, Vol.21 (3), p.515-523 [Periódico revisado por pares]

London: Nature Publishing

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6
Rapid chromosome evolution in recently formed polyploids in Tragopogon (Asteraceae)
Rapid chromosome evolution in recently formed polyploids in Tragopogon (Asteraceae)
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Rapid chromosome evolution in recently formed polyploids in Tragopogon (Asteraceae)

Lim, K Yoong ; Soltis, Douglas E ; Soltis, Pamela S ; Tate, Jennifer ; Matyasek, Roman ; Srubarova, Hana ; Kovarik, Ales ; Pires, J Chris ; Xiong, Zhiyong ; Leitch, Andrew R Hazen, Samuel P.

PloS one, 2008-10, Vol.3 (10), p.e3353-e3353 [Periódico revisado por pares]

United States: Public Library of Science

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7
Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus
Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus
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Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus

Xiong, Zhiyong ; Gaeta, Robert T ; Pires, J. Chris

Proceedings of the National Academy of Sciences - PNAS, 2011-05, Vol.108 (19), p.7908-7913 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Karyotype evolution in monitor lizards: cross-species chromosome mapping of cDNA reveals highly conserved synteny and gene order in the Toxicofera clade
Karyotype evolution in monitor lizards: cross-species chromosome mapping of cDNA reveals highly conserved synteny and gene order in the Toxicofera clade
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Karyotype evolution in monitor lizards: cross-species chromosome mapping of cDNA reveals highly conserved synteny and gene order in the Toxicofera clade

Srikulnath, Kornsorn ; Uno, Yoshinobu ; Nishida, Chizuko ; Matsuda, Yoichi

Chromosome research, 2013-12, Vol.21 (8), p.805-819 [Periódico revisado por pares]

Dordrecht: Springer-Verlag

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9
Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33
Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33
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Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33

Roumelioti, Fani-Marlen ; Louizou, Eirini ; Karras, Spyridon ; Neroutsou, Rozalia ; Velissariou, Voula ; Gagos, Sarantis

Journal of assisted reproduction and genetics, 2019-04, Vol.36 (4), p.769-775 [Periódico revisado por pares]

New York: Springer US

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10
MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL
MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL
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MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL

Wrona, Ewa ; Braun, Marcin ; Pastorczak, Agata ; Taha, Joanna ; Lejman, Monika ; Kowalczyk, Jerzy ; Fendler, Wojciech ; Młynarski, Wojciech

Journal of applied genetics, 2019-11, Vol.60 (3-4), p.347-355 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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