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Abbreviation : MLPA
Long Form : multiplex ligation-dependent probe amplification
No. Year Title Co-occurring Abbreviation
2022 A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation. PCR
2022 A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization. Gap-PCR, PCR-RDB, SMRT
2022 A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China. ---
2022 A novel rearrangement of the α-globin gene cluster containing both the -α3.7 and ααααanti4.2 crossover junctions in a Chinese family. CNV, SMRT
2022 A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency. OTCD
2022 Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria. PAH, PKU
2022 An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease. CNV, MO, NGS, qPCR
2022 Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis. ATRT, LOH, NF2
2022 Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. AKU
10  2022 Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania. BC, CNVs, NGS, VUS
11  2022 Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene. CF, PCR
12  2022 Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. CPT, NF1, PA
13  2022 CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma. HDGC
14  2022 Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia. CAH
15  2022 Clinical and Genetic Characteristics of IKZF1 Mutation in Chinese Children With B-Cell Acute Lymphoblastic Leukemia. ALL, B-ALL, InDels, MRD, NGS, SNVs
16  2022 Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia. HSP, NGS, SCA
17  2022 Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing. CACAH, CAH, LRS
18  2022 Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing. SMA, SMN1
19  2022 Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report. aHUS, CNV, NGS
20  2022 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome. aCGH, FISH, MS, NIPT, QF-PCR, UPD
21  2022 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18. aCGH, FISH, NIPT, QF-PCR
22  2022 Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center. ---
23  2022 Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease. NAFLD, POMC
24  2022 Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing. PCR, RDB, SMRT
25  2022 Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer. CNVs, NGS
26  2022 Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome. ADPKD, PKDTS, TSC
27  2022 Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma. aCGH, CGH, CISH, CrI, DNA, FISH, LOH, MS, NGS, PCR, RFLP, SNP
28  2022 Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma. FISH
29  2022 Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia. CNV, FH, NGS
30  2022 Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey. NGS
31  2022 Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia. HSPs, NGS, TCC, WMA
32  2022 Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China. EOPD, P/LP, PD
33  2022 Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. NGS
34  2022 Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant. RSTS, WES
35  2022 Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome. aCGH, BORS, BOS, HERVs, NGS
36  2022 Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. NGS
37  2022 Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease. PMD, WES
38  2022 High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with a favorable fetal outcome and cytogenetic discrepancy in various tissues. aCGH, FISH
39  2022 Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer. DSB, HR, NGS, PALB2, PrC
40  2022 Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes. GCK, GDM
41  2022 Impact of IKZF1 Deletions in the Prognosis of Childhood Acute Lymphoblastic Leukemia in Argentina. ALL, HRG
42  2022 Integration of immunohistochemistry, RNA sequencing, and multiplex ligation-dependent probe amplification for molecular classification of pediatric medulloblastoma. IHC, MB
43  2022 Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. NF1, NF1
44  2022 Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis. PCR
45  2022 Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center. CCAH, PPV, SV, SW
46  2022 Multiple endocrine neoplasia type 1: a new germline "homozygous" variant (c.201delC) caused by detection errors. MEN1
47  2022 Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients. FAP
48  2022 Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene. NGS, qPCR, SMA, SMN1
49  2022 Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping. ALL, CBA, CNA, FISH, OGM, SVs
50  2022 Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. CAH, hEDS, NC, TNX
51  2022 Prognostic utility of key copy number alterations in T cell acute lymphoblastic leukemia. CNAs, T-ALL
52  2022 Prognostic Value of Association of Copy Number Alterations and Cell-Surface Expression Markers in Newly Diagnosed Multiple Myeloma Patients. BM, CNAs, MFC, PCs, PFS
53  2022 Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene. CNVs
54  2022 RUNX2 Regulates Osteoblast Differentiation via the BMP4 Signaling Pathway. BMP, BMSCs, CCD, WGS
55  2022 Sequential approach to improve the molecular classification of childhood acute lymphoblastic leukemia. ALL, Ph-like, RT
56  2022 The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A. HA
57  2022 Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies. CNVs, DGS
58  2022 Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study. dRTA, HP, LP, NC, NDI, PTD, WES
59  2022 [Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China]. DMD, NGS, STR
60  2022 [Clinical and genetic analysis of a child with disorder of sex development]. CNVs, DSD, FISH
61  2022 [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene]. MPS II
62  2022 [Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy]. DMD, WES, XLI
63  2022 β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain. ---
64  2021 A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data. CNVs, WES, WGS
65  2021 A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. NGS, TSC
66  2021 A new family with spastic paraplegia type 51 and novel mutations in AP4E1. aCGH, AP-4, NGS, SPG51
67  2021 A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. IMD, NGS, WT
68  2021 A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review. NGS
69  2021 A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism. PC, PHPT, WGS
70  2021 A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency. CAH
71  2021 A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism. 22q11.2DS
72  2021 A seven-gene signature to predict the prognosis of oral squamous cell carcinoma. aCGH, OSCC
73  2021 A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics. h-UPD, iUPD, WES
74  2021 A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients. CMA, DD, ID, WES
75  2021 Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification. AZF, OR
76  2021 Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test. CES, GBA, GD
77  2021 Alkaptonuria in Russia. HGA, HGD
78  2021 An aberrant F8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient. FVIII, WGS
79  2021 An anti-ADAMTS1 treatment relieved muscle dysfunction and fibrosis in dystrophic mice. DMD, NGS
80  2021 An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation. ALP, BSP, CCD, IGSF10, WES
81  2021 Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies. CNVs, MA, WNT4
82  2021 Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach. CNVs, NGS, VUS
83  2021 Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears. AAO, AD-HSPs, HSP
84  2021 Application of multiplex ligation-dependent probe amplification (MLPA) and low pass whole genome sequencing (LP-WGS) to the classification / characterisation of low grade glioneuronal tumours. CNS, DNETs, LP-WGS, PXAs, WGS
85  2021 ARID1A genomic alterations driving microsatellite instability through somatic MLH1 methylation with response to immunotherapy in metastatic lung adenocarcinoma: a case report. ARID1A, BRCA, CDKN2A, EGFR, IHC, MLH1, MMR, MSI, PD-L1, RET
86  2021 ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come? MCG, P/LP
87  2021 Breakpoint characterization of a rare alpha0 -thalassemia deletion using targeted locus amplification on genomic DNA. gDNA, TLA
88  2021 Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene. CAS
89  2021 Case Report: Potocki-Lupski Syndrome in Five Siblings. PTLS
90  2021 Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. DMD, SMA, SMN1, WES
91  2021 CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis. AP, C3G, CFH, CFHRs, CNVs, IC-MPGN, SMRT, SVs
92  2021 Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics. ADPKD, CKD, NGS
93  2021 Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by -SEA and large novel alpha-globin gene cluster deletions. Hb, SNP
94  2021 Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. NF1
95  2021 Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients. Rb, RB1
96  2021 Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. BGI, NGS, qPCR, Rb, RB1
97  2021 Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2. NF2
98  2021 Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort. DMD, NGS
99  2021 Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia. CAH
100  2021 Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients. NGS