[HTML][HTML] Genetics and genomics in Peru: Clinical and research perspective
H Guio, JA Poterico, KS Levano… - Molecular Genetics & …, 2018 - ncbi.nlm.nih.gov
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main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …
main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
H Xue, H Huang, Y Wang, G An, M Zhang, L Xu… - Molecular …, 2019 - Springer
Background This study aimed to evaluate the feasibility of chromosomal microarray analysis
(CMA) in detecting the origin and structure of small supernumerary marker chromosomes …
(CMA) in detecting the origin and structure of small supernumerary marker chromosomes …
The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature
L Wang, B Dong, Y Xie, H Kang, Y Wu - Journal of Human Genetics, 2023 - nature.com
Chromosomal rearrangements mostly result from non-allelic homologous recombination
mediated by low-copy repeats (LCRs) or segmental duplications (SDs). Recent studies on …
mediated by low-copy repeats (LCRs) or segmental duplications (SDs). Recent studies on …
[HTML][HTML] Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18q)/del (18p) due to a paternal pericentric inversion 18 in a fetus with multiple …
MJ Lee, SH Park, SH Shim, M Moon, DH Cha - Taiwanese Journal of …, 2019 - Elsevier
Objective We present prenatal diagnosis of rec (18) dup (18q) inv (18)(p11. 2q21. 2) pat
owing to paternal pericentric inversion in a fetus. Case report A 37-year-old woman was …
owing to paternal pericentric inversion in a fetus. Case report A 37-year-old woman was …
Diagnóstico molecular de enfermedades raras en el Instituto Nacional de Salud del Niño (sede Breña) en el periodo 2014-2017
FM Vásquez Sotomayor - 2023 - repositorio.lamolina.edu.pe
El Servicio de Genética y Errores Innatos del Metabolismo (SGEIM) del Instituto Nacional de
Salud del Niño (INSN) se encarga del diagnóstico y tratamiento de las enfermedades …
Salud del Niño (INSN) se encarga del diagnóstico y tratamiento de las enfermedades …
A Pseudocoarctation of the Aorta With a Left Subclavian Artery Aneurysm, A Case Report and A Review of the Literature
Here we present a 47-year-old male diagnosed with a pseudocoarctation of the aorta and a
funnel-like subclavian artery aneurysm with a large orifice and severe aortic valve …
funnel-like subclavian artery aneurysm with a large orifice and severe aortic valve …
[HTML][HTML] Pseudocoarctation of aorta: a very rare anatomic anomaly
WS Cubas, J Vásquez-Arias… - Indian Journal of Thoracic …, 2020 - Springer
Pseudocoarctation of the aorta (PCOA) is a rare anomaly of the aortic arch and its
presentation is often an incidental finding. We present the case of a 66-year-old patient with …
presentation is often an incidental finding. We present the case of a 66-year-old patient with …
Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature
E Gökpınar İli, Ş Altıner, HG Karabulut - Cytogenetic and Genome …, 2019 - karger.com
We present a patient with a de novo derivative chromosome 18 which includes a terminal
deletion of 18p and a terminal duplication of 18q accompanied by a cryptic duplication of …
deletion of 18p and a terminal duplication of 18q accompanied by a cryptic duplication of …
Genetics and genomics in Perú: clinical and research perspective.
Peru is a pluricultural and ethnically diverse country located in middle west of South
America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered …
America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered …