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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.
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.
Genet Med
; 23(3): 435-442, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33100332
3.
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
4.
Cytogenetic and Cytogenomic Microarray Characterization of Chromothripsis in Chromosome 8 Affecting MOZ/NCOA2 (TIF2), FGFR1, RUNX1T1, and RUNX1 in a Pediatric Acute Myeloid Leukemia.
J Pediatr Hematol Oncol
; 39(4): e227-e232, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28085746
5.
Whole exome sequencing in recurrent early pregnancy loss.
Mol Hum Reprod
; 22(5): 364-72, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26826164
6.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Hum Mutat
; 35(1): 58-62, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24130152
7.
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages.
Glob Med Genet
; 11(1): 123-131, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38560483
8.
Gonadal steroids regulate the expression of aggrecanases in human endometrial stromal cells in vitro.
J Cell Mol Med
; 17(10): 1325-34, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23947778
9.
Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Mol Genet Genomic Med
; 11(8): e2181, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37013615
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
Regulation of A Disintegrin And Metalloproteinase with ThromboSpondin repeats-1 expression in human endometrial stromal cells by gonadal steroids involves progestins, androgens, and estrogens.
J Clin Endocrinol Metab
; 91(12): 4825-35, 2006 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-17018655
18.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
JCI Insight
; 1(3): e85461, 2016 03 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-27699255
19.
Functional consequences of copy number variants in miscarriage.
Mol Cytogenet
; 8: 6, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25674159
20.
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Orphanet J Rare Dis
; 8: 100, 2013 Jul 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23837398
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