Results 11 to 20 of about 82 (77)

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

Translocaciones cromosómicas diagnosticadas prenatalmente en el Laboratorio de Citogenética de la Provincia de Villa Clara

Acta Médica del Centro
Introducción: las translocaciones son los rearreglos cromosómicos más frecuentes. Objetivo: describir las translocaciones recíprocas y por fusión centromérica de diagnóstico prenatal, su origen y el tipo de segregación en los casos heredado.
María Elena de la Torre Santos, Lázaro Silvano Pérez Cabrera, Arlán Machado Rojas   +2 more
doaj  

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. [PDF]

Front Genet, 2021
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I.   +21 more
europepmc   +1 more source

Medical care in clinical genetics: an experience of decentralization in southern Brazil. [PDF]

Einstein (Sao Paulo), 2021
Meneghini KFD, Karam SM, Madruga VFP, Ungaretti ASS, Pinguello EC, Severo R.   +5 more
europepmc   +1 more source

Proceedings of the 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana) Coimbra, 17-19 November 2022. [PDF]

Medicine (Baltimore), 2023
europepmc   +1 more source

LXII Congreso Nacional de la SEHH, XXXVI Congreso Nacional de la SETH Virtual, 26-30 de octubre, 2020. [PDF]

Haematologica, 2020
The Authors.
europepmc   +1 more source