Results 1 to 10 of about 71 (68)

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

[Risk factors in the origin of Down syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc, 2023
Blanco-Montaño A, Ramos-Arenas M, Yerena-Echevarría BA, Miranda-Santizo LD, Ríos-Celis AL, Dorantes-Gómez AT, Morato-Rangel AJ, Meza-Hernández JA, Acosta-Saldívar ED, Aguilar-Castillo CD, Cárdenas-Conejo A.   +10 more
europepmc   +1 more source

Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center. [PDF]

Arq Bras Cardiol, 2022
Grassi MS, Montenegro M, Zanardo EA, Pastorino AC, Dorna MB, Kim C, Jatene M, Miura N, Kulikowski L, Carneiro-Sampaio M.   +9 more
europepmc   +1 more source

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

Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana). [PDF]

Medicine (Baltimore), 2021
europepmc   +1 more source

Proceedings of the 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana). [PDF]

Medicine (Baltimore), 2022
europepmc   +1 more source

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes. [PDF]

Rev Paul Pediatr
Böttcher AK, Siqueira MB, Malgarezi N, Nunes MR, Mergener R, Kalil LP, Trevisan P, Zen PRG.   +7 more
europepmc   +1 more source