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Abbreviation : UPD
Long Form : uniparental disomy
No. Year Title Co-occurring Abbreviation
2021 A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene. ---
2021 Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome. TRMA
2021 Clinical significance and mechanisms associated with segmental UPD. CVS, NIPT, segUPD
2021 Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature. CENTRAL, cf, CPM, FGR, MeSH, NIPT, PGT-A
2021 Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes? CN-AOH, SNP
2021 Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation. HC, PTEN, SNP
2021 High-Throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects. DMRs, LOM, PHP1b
2021 Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome. aCGH, FISH, IUGR
2021 Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics. AOH, CMA, GS
10  2021 Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. NLSDI
11  2021 Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome. BWS, dup, MAT, PAT, SRS
12  2021 One-year follow-up of thyroid function in 23 infants with Prader- Willi syndrome at a single center in China. PWS, rhGH, TSH
13  2021 Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia. ACHM
14  2021 Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome. del, EM, PWS, UM
15  2021 Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array. MS-MLPA, PWS, SNP
16  2021 Prenatal diagnosis of a familial Y long-arm and chromosome 15 short-arm translocation inherited from a mother carrier. aCGH
17  2021 Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus. aCGH, FISH, IUGR
18  2021 Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome. aCGH, FISH
19  2021 Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis in a pregnancy with a favorable outcome. FISH
20  2021 Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. SBDS, SDS
21  2021 The prognostic significance of single-nucleotide polymorphism array-based whole-genome analysis and uniparental disomy in myelodysplastic syndrome. MC, MDS, SNP-A
22  2021 Uniparental disomy in a population of 32,067 clinical exome trios. ES, SNP
23  2021 Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient. CNV-seq, Trio-WES, UPhD, UPiD, USH2A
24  2020 A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family. STR, WES
25  2020 A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. ---
26  2020 A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. ACM
27  2020 Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. BWS, HI
28  2020 Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. CMS, GFPT1
29  2020 CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review. dCas9, ICRs, IDs
30  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. aCGH, FISH, QF-PCR
31  2020 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis. aCGH, FISH, NIPT, QF-PCR
32  2020 De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue. SMCs
33  2020 Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. AS, AUC, ROC
34  2020 Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State. Hb, MS
35  2020 Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. del, GHT, PWS
36  2020 Genetic testing on products of conception and its relationship with body mass index. ART, BMI, ET, POC, SNP, TSH
37  2020 Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls. ---
38  2020 Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer. ---
39  2020 Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array. SNP, sSMCs
40  2020 Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis. FISH, QF-PCR
41  2020 Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis. GAA
42  2020 Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients. PWS
43  2020 Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics. ---
44  2020 Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome. aCGH, FISH, QF-PCR
45  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. aCGH
46  2020 Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy. aCGH, CPM, CVS, FISH, QF-PCR
47  2020 Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome. aCGH, FISH, QF-PCR
48  2020 Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome. FISH
49  2020 Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome. FISH
50  2020 Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature review. ---
51  2020 Role of autoimmune hemolytic anemia as an initial indicator for chronic myeloid leukemia: A case report. AIHA, BM, CML, MCR
52  2020 The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci. LOH, MS-MLPA, SNP
53  2020 Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis. BPGM
54  2020 Uniparental disomy of chromosome 21: A statistical approach and application in paternity tests. miUPD21, SNP, STR
55  2020 Uniparental disomy: Origin, frequency, and clinical significance. ---
56  2020 Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. CI
57  2020 [Application of various genetic techniques for the diagnosis of Prader-Willi syndrome]. CMA, MS-PCR, PWS
58  2020 [Research progress on uniparental disomy in cancer]. ---
59  2019 A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result. array-CGH, ICSI, IVF, PGT-SR, SNP
60  2019 A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. AS, UBE3A-ATS
61  2019 A rare case of acquired immunodeficiency associated with myelodysplastic syndrome. HSCT, MAC, MDS, RAG1, RIC, SNP
62  2019 Accurate detection of clinically relevant uniparental disomy from exome sequencing data. ES, SNP
63  2019 Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool. GC, JSPS, MR, TR, XCI
64  2019 Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. IBD, ROH
65  2019 Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. ASDs, CMA, MCA, pCNVs
66  2019 Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. WGS
67  2019 Controlled Reduction of Genomic Heterozygosity in an Industrial Yeast Strain Reveals Wide Cryptic Phenotypic Variation. ---
68  2019 Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. BG, CMA, CNVs, ES, pCNVs, QC, ROH, SNVs
69  2019 Duplication of ALK F1245 missense mutation due to acquired uniparental disomy associated with aggressive progression in a patient with relapsed neuroblastoma. ALK, NBL
70  2019 Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies. CMA, CNVs
71  2019 From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. CMA, CNVs, HPO, SNVs, STR, SV, WGS
72  2019 Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD). hiPSC, MS-MLPA, PWS
73  2019 Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia. CN-AML, DFS, FLT3-ITD, LOH, OS
74  2019 Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. HHL, NSHL, TRS
75  2019 Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. CNV, SNP, VOUS
76  2019 Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. AR, CGRs, DMRs, ES, ROH, seDNA, SNP, TRP
77  2019 Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil. CMA, LCSH, ROH, SNPs
78  2019 Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected. GH, GnRH
79  2019 Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report. ---
80  2019 Molecular investigation of uniparental disomy (UPD) in spontaneous abortions. ---
81  2019 Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. GH, PWS
82  2019 Multiple methods used for type detection of uniparental disomy in paternity testing. DIP, mUPD, pUPD, SNP, STR
83  2019 Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome. FISH
84  2019 Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. cfDNA, CVS, RATs
85  2019 Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome. PWS, VBM
86  2019 Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis? NHROB, ROB
87  2019 RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting. GoNL
88  2019 Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue. CMA, LC-WGS, SBA
89  2019 Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays. AR, UPiD
90  2019 Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent. ---
91  2019 Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. MMA
92  2019 Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. POC, SNP
93  2019 Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms. BLM, CMA, SNP
94  2019 Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. AR, GSD III, LOH, SNP, UPiD, WES
95  2019 Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. AS, WES
96  2019 [Genetic analysis of an adult with mosaicism of uniparental disomy 11p]. SNP-array
97  2019 [Genetic testing of chorionic villi from abortuses during early pregnancy]. CNVs, SNP-array, VOUS
98  2019 [Influence of uniparental disomy on the conclusion of paternity testing]. SNP-array
99  2018 Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. DSD
100  2018 Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. PWS