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Abbreviation : aCGH
Long Form : array comparative genomic hybridization
No. Year Title Co-occurring Abbreviation
2021 Preimplantation Genetic Screening and The Success Rate of In Vitro Fertilization: A Three-Years Study on Iranian Population. ART, FISH, PGS
2020 18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype. FAS, IGF2, PAE, WBC
2020 A Case of Adjacent, Clonally Distinct Borderline Melanocytic Tumors on the Arm. AST
2020 A case series of infants with increased VAMP7 gene dosage at birth and virilization defects. DBS
2020 A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review. ---
2020 A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features. ---
2020 An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case. aMCB, BCP-ALL
2020 An Economic Analysis of Aneuploidy Screening of Oocytes in Assisted Reproduction in Germany. PGT-A
2020 An economic analysis of preimplantation genetic testing for aneuploidy by polar body biopsy in advanced maternal age. PGT-A
10  2020 Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing. FISH, WGS
11  2020 Array-CGH: importance in the study of developmental delays in pediatrics. GDD
12  2020 CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. ---
13  2020 Challenges in molecular diagnosis of X-linked Intellectual disability. ID, NGS
14  2020 Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile. CCs
15  2020 Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer. IR, NGS, OPR/LBR, PGT-A, POCs, SABR, STEET
16  2020 Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong. CMA, QF-PCR
17  2020 Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis. FISH, QF-PCR, UPD
18  2020 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis. FISH, NIPT, QF-PCR, UPD
19  2020 Cytogenetic testing of pregnancy loss tissue: a meta-analysis. CI, FISH, MLPA, SNP
20  2020 Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions. DBA, RP, WES
21  2020 Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. CNVs, GP, PPV, QMSPF, WES
22  2020 Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing. CNVs, NGS, SNVs
23  2020 Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases. ---
24  2020 DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms. cFAs, cFTCs, DNA FISH, FNAC, pts
25  2020 Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. CNEs, CNVs, ECR, HMX1, qPCR, SNP
26  2020 ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. FISH, NGS, PGT, PGT-A, PGT-M, PGT-SR, SNP
27  2020 Euploid rates among oocyte donors: is there an optimal age for donation? NGS, OD-IVF, PGT-A
28  2020 Expanding the morphologic spectrum of chromophobe renal cell carcinoma: A study of 8 cases with papillary architecture. RCC
29  2020 Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis. BAC, CCR, CCRs, CNVs, FISH, mFISH
30  2020 Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. WES
31  2020 Genetic Analysis of Circulating Tumour Cells. CTCs, FISH, NGS, RT-PCR
32  2020 Genomic coamplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients. NB
33  2020 Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. CMT, CNVs, NGS, WES, WGS
34  2020 Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. ADHD, ASD, CNVs, ID, NDD, OCD, TS
35  2020 Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse. BCP-ALL, MLPA, NGS
36  2020 Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. CNVs, ES, PD, SNVs
37  2020 Iodine‑131 metabolic radiotherapy leads to cell death and genomic alterations through NIS overexpression on cholangiocarcinoma. CC, NIS
38  2020 Isolation and characterization of a CD34+ sub-clone in B-cell lymphoma. 2-CdA, B-NHL, CR, FCM, NHL, PCR, PDS
39  2020 Molecular and clinicopathologic characterization of intravenous leiomyomatosis. IVL
40  2020 Multiple Whole Chromosomal Gains Define Angiomatous Meningiomas and Are Absent From the Tumor Vasculature. ---
41  2020 Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer. ---
42  2020 Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases. MIFS
43  2020 NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers. AGAs, AJCC, CNAs, IBC, non-IBC, tNGS
44  2020 Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient. LRPPRC, LSFC, OXPHOS, WES
45  2020 Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. CGF, CI, CLBR, FISH, ICSI, IVF, LBR, OR, PGS, PGT-A, RCTs
46  2020 Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin. OMIM
47  2020 Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15). FISH, QF-PCR, sSMC
48  2020 Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication. OMIM
49  2020 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. IUGR
50  2020 Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes. IUGRs
51  2020 Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound. OMIM
52  2020 Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome. ---
53  2020 Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects. CDH, CHD, IUGR, OMIM
54  2020 Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome. FISH, QF-PCR, UPD
55  2020 Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome. FISH
56  2020 Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome. UPD
57  2020 Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum. ---
58  2020 Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion. FISH
59  2020 Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results. beta-hCG, MoM, PAPP-A
60  2020 Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9. DSBs, WGS
61  2020 Risk Stratification in Multiple Myeloma in Indian Settings. MM
62  2020 Robust Recurrent CNV Detection in the Presence of Inter-Subject Variability. CNVs
63  2020 Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma. PA, RPA
64  2020 Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review. AML, CR, FISH
65  2020 Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism? WES
66  2020 Unexpected phenotype in a frameshift mutation of PTCH1. BCNS
67  2020 [A genetic case study of neurofibromatosis type 1-microdeletion syndrome caused by atypical 17q11.2 microdeletion]. MLPA
68  2020 [Advance in research on microdeletion/microduplications at Xp22.3]. BoBs
69  2020 [Clinical significance of non-invasive prenatal testing in preventing birth defects]. NIPT
70  2020 [Contribution of array CGH in the management of fetal nuchal translucency]. ---
71  2020 [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis]. MLPA, WBS
72  2019 A novel multiplex fluorescent competitive PCR for copy number variation detection. CNR, CNV, LHX1, MLPA, NMFC-PCR, TBX6, X/A
73  2019 A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings. ---
74  2019 A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. ADR, DGS, DS, FISH, NIPT, pCNVs, RF, TS
75  2019 aCGH Analysis of Predictive Biomarkers for Response to Bevacizumab plus Oxaliplatin- or Irinotecan-Based Chemotherapy in Patients with Metastatic Colorectal Cancer. CNG, mCRC, OS, PFS, RR
76  2019 An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities. NGS
77  2019 An Entropy-Regularized Framework for Detecting Copy Number Variants. CNVs
78  2019 Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series. ROH, SNP
79  2019 Array Comparative Genomic Hybridization Analysis Reveals Significantly Enriched Pathways in Canine Oral Melanoma. cMM, CNAs, COM, FFPE, hMM
80  2019 Characterization of iPSCs derived from low grade gliomas revealed early regional chromosomal amplifications during gliomagenesis. LGGs
81  2019 Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases. IUFD, QF-PCR
82  2019 Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization. FISH, sSMC
83  2019 Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre. CNVs, MLPA, VCFS
84  2019 Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. HIBM
85  2019 Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies. GHD, ISS, LMD, LWD
86  2019 Comparable Genomic Copy Number Aberrations Differ across Astrocytoma Malignancy Grades. CNA, GISTIC, NOD, RIG
87  2019 Comprehensive Genomic Profiling of Androgen-Receptor-Negative Canine Prostate Cancer. CNAs, PCs, PIA
88  2019 Computational detection and experimental validation of segmental duplications and associated copy number variations in water buffalo ( Bubalus bubalis ). CNVs, SDs
89  2019 Copy Number Aberrations of Multiple Genes Identified as Prognostic Markers for Extrahepatic Metastasis-free Survival of Patients with Hepatocellular Carcinoma. CNAs, HCC
90  2019 De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay. BCNS, CMA, GDD, SNP-array
91  2019 Deoxyribonucleic acid detection in blastocoelic fluid: a new predictor of embryo ploidy and viable pregnancy. BF, TE, WGA
92  2019 Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. AFI, OMIM
93  2019 Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects. CHD, OMIM
94  2019 Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects. CHD
95  2019 DNA copy number variations in children with vesicoureteral reflux and urinary tract infections. CNVs, RIVUR, UTI, VUR
96  2019 Effects of tobacco abuse on major chromosomal instability in human papilloma virus 16-positive oropharyngeal squamous cell carcinoma. HPV, OPSCC
97  2019 Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. ---
98  2019 Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. FISH, pCNV
99  2019 Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations. Acr-ch
100  2019 Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization. FISH