22q11.2 deletion syndrome and complex congenital heart defects

Autor: Machado Rosa, Rafael Fabiano, Trevisan, Patrícia, Koshiyama, Dayane Bohn, Pilla, Carlo Benatti, Gazzola Zen, Paulo Ricardo, Varella-Garcia, Marileila, Paskulin, Giorgio Adriano

Publikováno v: In Revista da Associação Médica Brasileira (English Edition) January-February 2011 57(1):62-65

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NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

Autor: Tommerup, Niels, Fonseca, Ana Carolina, Mehrjouy, Mana, Rasmussen, Malene B., Bache, Iben, Halgren, Christina, Kroisel, Peter, Midyan, Susanna, Vermeesch, Joris, Vianna-Morgante, Angela M., Abe, Kikue T., Moretti-Ferreira, Danilo, Paskulin, Giorgio, Angelova, Lyudmila, Rajcan-Separovic, Evica, Sismani, Carolina, Sedlacek, Zdenek, Fagerberg, Christina, Brondum-Nielsen, Karen, Vogel, Ida, Bojesen, Anders, KATRIN OUNAP, Roht, Laura, Varilo, Teppo, Luukkonen, Tiia, Lespinasse, James, Beneteau, Claire, Kalscheuer, Vera M., Ehmke, Nadja, Daumer-Haas, Cornelia, Stefanou, Eunice G., Marta Czako, Kosztolanyi, Gyorgy, Sheth, Frenny, Zuffardi, Orsetta, Bonaglia, Clara, Novelli, Antonio, Fannemel, Madeleine, Dias, Patricia, Kokalj-Vokac, Nadja, Ramos-Arroyo, Maria A., Rodriguez Martinez, Laura, Guitart, Miriam, Schinzel, Albert, Engelen, John, Silan, Fatma, Akkari, Yassmine, Batanian, Jacqueline R., Kim, Hyung-Goo, Aristidou, Constantia, Almeida, Cynthia, Lewis, Suzanne, Moreno-Igoa, Maria, Hovhannisyan, Anna, Jacky, Peter, Bak, Mads

Publikováno v: Tommerup, N, Fonseca, A C, Mehrjouy, M, Rasmussen, M B, Bache, I, Halgren, C, Kroisel, P, Midyan, S, Vermeesch, J, Vianna-Morgante, A M, Abe, K T, Moretti-Ferreira, D, Paskulin, G, Angelova, L, Rajcan-Separovic, E, Sismani, C, Sedlacek, Z, Fagerberg, C, Brondum-Nielsen, K, Vogel, I, Bojesen, A, Ounap, K, Roht, L, Varilo, T, Luukkonen, T, Lespinasse, J, Beneteau, C, Kalscheuer, V M, Ehmke, N, Daumer-Haas, C, Stefanou, E G, Marta Czako, Kosztolanyi, G, Sheth, F, Zuffardi, O, Bonaglia, C, Novelli, A, Fannemel, M, Dias, P, Kokalj-Vokac, N, Ramos-Arroyo, M A, Rodriguez Martinez, L, Guitart, M, Schinzel, A, Engelen, J, Silan, F, Akkari, Y, Batanian, J R, Kim, H-G, Aristidou, C, De Almeida, C, Lewis, S, Moreno-Igoa, M, Hovhannisyan, A, Jacky, P & Bak, M 2017, ' NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers ', Molecular Cytogenetics, vol. 10, no. S1, 7.P1, pp. 70 . https://doi.org/10.1186/s13039-017-0319-3
Web of Science

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9095473b3c175a7a4ff44c085f2a1fa6
https://curis.ku.dk/portal/da/publications/ngs-mapped-breakpoints-in-balanced-chromosomal-rearrangements-including-the-first-large-cohort-of-healthy-carriers(2236a73e-7cb4-4c28-8c59-1c5075ab5bfd).html

Utilidade clínica do cariótipo de pele

Autor: Dorfman,Luiza E., Silva,Agnes F. R. P., Paskulin,Giorgio A., Rosa,Rafael F. M., Zen,Paulo R. G.

Publikováno v: Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 51, Issue: 4, Pages: 229-230, Published: AUG 2015
Jornal Brasileiro de Patologia e Medicina Laboratorial v.51 n.4 2015
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP

We report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a3b64313ad99ec28fce75c82cebb1295
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229&lng=en&tlng=en

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

Autor: Silva, Alessandra Pawelec da, Rosa, Rafael Fabiano Machado, Trevisan, Patrícia, Dorneles, Juliana Cavalheiro, Mesquita, Camila Saporiti, Mattos, Vinicius Freitas de, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola

Publikováno v: Sao Paulo Medical Journal, Volume: 133, Issue: 3, Pages: 191-198, Published: 17 OCT 2014

CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::2700663b669b48b00c1c42908626f8fb
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802015000300191&lng=en&tlng=en