Results 11 to 20 of about 839 (100)

Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms. [PDF]

Mol Genet Genomic Med, 2020
Of 28,806 karyotypes analyzed in Ecuador, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%). Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).
Paz-Y-Miño C, Yumiceba V, Moreta G, Paredes R, Ruiz M, Ocampo L, Llamos Paneque A, Ochoa Pérez C, Ruiz-Cabezas JC, Álvarez Vidal J, Jiménez Torres I, Vargas-Vera R, Cruz F, Guapi N VH, Montalván M, Meneses Álvarez S, Garzón Castro M, Lamar Segura E, Recalde Báez MA, Naranjo ME, Tambaco Jijón N, Sinche M, Licuy P, Burgos R, Porras-Borja F, Echeverría-Garcés G, Pérez-Villa A, Armendáriz-Castillo I, García-Cárdenas JM, Guerrero S, Guevara-Ramírez P, López-Cortés A, Zambrano AK, Leone PE.   +33 more
europepmc   +2 more sources

SARS‐CoV‐2 infection as cause of in‐utero fetal death: regional multicenter cohort study

Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 6, Page 867-874, December 2023., 2023
ABSTRACT Objective Placental infection with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) can lead to placental insufficiency and in‐utero fetal death (IUFD). The objective of this study was to confirm and quantify the extent to which fetoplacental infection with SARS‐CoV‐2 is a cause of fetal death.
M. Nkobetchou, M. Leruez‐Ville, T. Guilleminot, N. Roux, G. Petrilli, F. Guimiot, M.‐H. Saint‐Frison, I. Deryabin, Y. Ville, V. Faure‐Bardon   +9 more
wiley   +1 more source

Abstract Book for the 27th Congress of the European Hematology Association [PDF]

Hemasphere, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
europepmc   +2 more sources

EHA2021 Virtual Congress Abstract Book

, 2021
HemaSphere, Volume 5, Issue S2, June 2021.
wiley   +1 more source

Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020 [PDF]

Hemasphere, 2020
HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
europepmc   +2 more sources

Prenatal diagnosis of terminal 11q deletion [PDF]

, 2011
The majority of 11q deletion cases described may be included in the “distal 11q deletion syndrome”, or Jacobsen syndrome. This is a rare but clinically recognizable condition with an incidence of 1/ 100,000 births.
Brito, Filomena, Caetano, Paula, Correia, Hildeberto, Dias, Ivone, Furtado, José, Marques, Bárbara, Silva, Marisa, Simão, Laurentino, Ventura, Catarina   +8 more
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Variedad de la presentación citogenética en el síndrome de Turner, prenatal y postnatal [PDF]

, 2014
Antecedentes: El síndrome de Turner (ST) es causado por la ausencia total o parcial del cromosoma X y posee una gran variedad en su presentación citogenética.
Andrés Fandiño-Losada, Carolina Isaza, Fabián Andrés Ruiz, Mariana Valencia, Wilmar Saldarriaga   +4 more
core   +1 more source

Diagnóstico Genético Pré-implantação: aspetos técnicos e considerações éticas [PDF]

, 2012
Com o avanço das técnicas de Procriação Medicamente Assistida (PMA), surgiu em 1990 a primeira criança nascida após diagnóstico genético pré-implantação (DGPI).
Oliva Teles, Natália
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Interstitial deletion on chromosome 14q in prenatal diagnosis [PDF]

, 2016
A limited number of prenatal diagnosis (PND) cases have reported interstitial deletions of the long arm of chromosome 14 involving the 14q31-32 region.
Alves, C., Cohen, A., Correia, H., Correia, J., Cruz, J., Fernandes, R., Ferreira, C., Freixo, J., Furtado, J., Marques, B., Martins, A., Pedro, S., Simão, L., Ventura, C., Viegas, M.   +14 more
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Estudo clínico, citogenético e molecular da síndrome do X frágil. [PDF]

, 1999
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Lora, Fabiana Ligia
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