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■ Abbreviation / Long Form : NAHR / non-allelic homologous recombination

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Abbreviation:   NAHR  (>> Co-occurring Abbreviation)
Long Form:   non-allelic homologous recombination
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2022 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. CMA, OGM, SDs, WGS
2022 A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome. 22q11.2DS
2022 CRISPR/Cas9-induced gene conversion between ATAD3 paralogs. ---
2022 Mechanisms of structural chromosomal rearrangement formation. FoSTeS, MMBIR, NHEJ
2022 Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. AR, CES
2021 Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p. dup 8p, REPD, REPP, SDs
2021 Genes and Pseudogenes: Complexity of the RCCX Locus and Disease. CAH, CNVs, MHC, STK19, TNX
2021 Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature. MA
2021 New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software. CMT, NGS, SNVs, SVs
10  2021 Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders. CNV
11  2021 Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing. CSF, del, InDels, INV, IP-III, NGS, NHEJ, SVs
12  2021 Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer. ICGC, SVs
13  2020 Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review. LCRs, SNP
14  2020 Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR). 22q11.2DS
15  2020 Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method. 22q11.2DS, CHDs, FISH, MLPA, TDR
16  2019 Chromatin organization modulates the origin of heritable structural variations in human genome. DSBs, HDR, SVs
17  2019 Evolutionary Story of the Low/Medium-Affinity IgG Fc Receptor Gene Cluster. FcgammaR
18  2019 High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men. AZF
19  2019 Nonallelic homologous recombination events responsible for copy number variation within an RNA silencing locus. CHS, RNAi, SNPs
20  2019 Prediction and identification of recurrent genomic rearrangements that generate chimeric chromosomes in Saccharomyces cerevisiae. PMGL
21  2019 The 22q11 low copy repeats are characterized by unprecedented size and structural variability. 22q11DS, LCRs
22  2018 Clinical significance of germline copy number variation in susceptibility of human diseases. CNV, NHEJ, SNPs
23  2018 De novo unbalanced translocations have a complex history/aetiology. inv-dup del, NHEJ
24  2018 Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences. GQs
25  2018 npInv: accurate detection and genotyping of inversions using long read sub-alignment. IR
26  2018 Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions. CNVs, NF1, STR
27  2018 Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia. HA, LCRs, MLPA
28  2017 A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. L1s, MSS
29  2017 A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies. CNV, DD, ID, MCA, SNP, STR
30  2017 An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. CNVs, ddPCR, LCRs
31  2017 Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. PRS1, PRS2
32  2017 Genomic disorders 20 years on-mechanisms for clinical manifestations. aCGH, CNVs, SNP, SNVs
33  2017 Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. 22q11.2DS, LCRs
34  2017 [Atypical deletions in Williams-Beuren syndrome]. ---
35  2016 Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. CGH, CNVs, IRD, NGS, SNP
36  2016 Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. CNVs, SCORE, SDs
37  2016 Insights into epigenetic landscape of recombination-free regions. CO
38  2016 Major influence of repetitive elements on disease-associated copy number variants (CNVs). CNVs, NHEJ
39  2016 Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. HNPP, SMS
40  2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. ATAD3A, WES
41  2016 [Clinical and genetic study of a child with mental retardation and multiple congenital anomalies and a 16p13.11 microdeletion]. qPCR, SNP-array
42  2015 Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. CGRs, CNVs
43  2015 Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. NH
44  2015 Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination. AZFc
45  2015 Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. LCRs, SV
46  2015 Cut, copy, move, delete: The study of human interferon genes reveal multiple mechanisms underlying their evolution in amniotes. IFNs
47  2015 Decoding NF1 Intragenic Copy-Number Variations. CNVs, FoSTeS, LCRs, MMBIR, NF1, NHEJ
48  2015 Detecting non-allelic homologous recombination from high-throughput sequencing data. ---
49  2015 Distinct X chromosomal rearrangements in four haemophilia B patients with entire F9 deletion. FoSTeS, MLPA, MMBIR
50  2015 Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion. CGH, SNP
51  2015 Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions. ---
52  2015 Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities. ---
53  2015 Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. LCRs, LINE, TEs
54  2015 Human Structural Variation: Mechanisms of Chromosome Rearrangements. HERV, LINE, NGS, SV, WGS
55  2015 Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression. CNRs, CNV
56  2015 Occurrence of a non deleterious gene conversion event in the BRCA1 gene. IGC
57  2015 Stimulation of Chromosomal Rearrangements by Ribonucleotides. LOH
58  2015 The human clinical phenotypes of altered CHRNA7 copy number. ASD, CNVs, ID, LCR
59  2014 A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. LCR
60  2014 An update of the goat genome assembly using dense radiation hybrid maps allows detailed analysis of evolutionary rearrangements in Bovidae. RH
61  2014 Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B. MMBIR, NHEJ
62  2014 Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome. CCEL, CNV, SDs
63  2014 Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers. ---
64  2014 Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. CNV, HERVs
65  2014 Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene. CNVs, HA, qPCR, RT-PCR
66  2014 Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. CALS, NF1, PRS2
67  2014 Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses. OR
68  2014 Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders. ---
69  2014 Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication. array-CGH, CHD, CNVs, FISH, LCRs, MLPA
70  2014 Selection shaped the evolution of mouse androgen-binding protein (ABP) function and promoted the duplication of Abp genes. ABP
71  2014 Tandem repeats and G-rich sequences are enriched at human CNV breakpoints. CNV, DSBs
72  2014 The molecular evolution of cytochrome P450 genes within and between drosophila species. ---
73  2014 The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age. BMI, ICC, MZ
74  2013 A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia. ICSI, LCRs
75  2013 A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome. aHUS, CFH, ESRD, SCRs
76  2013 Alu elements: an intrinsic source of human genome instability. ---
77  2013 Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. MMR
78  2013 De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation. ---
79  2013 Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. LCRs
80  2013 Generation of tandem direct duplications by reversed-ends transposition of maize ac elements. ---
81  2013 Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. ---
82  2013 Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. LCRs, SC, SVs
83  2013 Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. MSY
84  2013 Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. aCGH, BISRS, BPES, CNVs, FoSTeS, MMBIR, MMEJ, qPCR, SRS
85  2013 NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. CMA, CNVs, DP-LCRs, HR
86  2013 Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. ---
87  2013 Single-stranded annealing induced by re-initiation of replication origins provides a novel and efficient mechanism for generating copy number expansion via non-allelic homologous recombination. RRIGA, SSA
88  2013 The role of gene conversion in preserving rearrangement hotspots in the human genome. CNVs, SDs
89  2013 The role of retrotransposons in gene family expansions: insights from the mouse Abp gene family. Abp
90  2012 A recurrent translocation is mediated by homologous recombination between HERV-H elements. HERV
91  2012 Chromosome 15q24 microdeletion syndrome. aCGH, LCRs, SRO
92  2012 Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. LCR
93  2012 Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. ID
94  2012 Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. CNVs, Meig1, SDs
95  2012 Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia. ADH, APOB, LDLR, MLPA, PCSK9
96  2012 Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. aCGH, CNVs, LCRs
97  2012 Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. ---
98  2012 High-resolution fish on DNA fibers for low-copy repeats genome architecture studies. LCRs
99  2012 Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. ---
100  2012 Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. CNV