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1.
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Am J Med Genet A
; 188(6): 1728-1738, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35199448
2.
Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.
Am J Med Genet A
; 182(12): 3023-3028, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32978894
3.
Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma.
Case Rep Genet
; 2022: 6341207, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35450197
4.
Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.
Glob Med Genet
; 9(2): 166-174, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35707784
5.
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues.
Mol Cytogenet
; 14(1): 21, 2021 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33810806
6.
Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin.
Case Rep Genet
; 2020: 8897541, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33343950
7.
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.
Mol Genet Genomic Med
; 8(7): e1297, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32383339
8.
Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.
Mol Genet Genomic Med
; 7(10): e00965, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31478360
9.
Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.
Mol Cytogenet
; 12: 12, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30886647
10.
Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities.
Med Sci (Basel)
; 7(2)2019 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-30678103
11.
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Front Genet
; 10: 1162, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31850057
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