Pages that link to "Q34629238"

The following pages link to Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain (Q34629238):

Displaying 45 items.

• arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs (Q33567673) (← links)
• Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression (Q33587852) (← links)
• Deletions of chromosomal regulatory boundaries are associated with congenital disease (Q34271260) (← links)
• Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes (Q34478056) (← links)
• SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. (Q34501235) (← links)
• Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination (Q35131058) (← links)
• Submicroscopic deletions at 13q32.1 cause congenital microcoria (Q35266333) (← links)
• Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes (Q35532131) (← links)
• DNA damage response factors from diverse pathways, including DNA crosslink repair, mediate alternative end joining (Q35550622) (← links)
• Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. (Q35766412) (← links)
• Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs). (Q36610789) (← links)
• PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. (Q36695727) (← links)
• Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome (Q37153021) (← links)
• Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling (Q37153028) (← links)
• Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. (Q37320277) (← links)
• Genomic and oncogenic preference of HBV integration in hepatocellular carcinoma. (Q37329859) (← links)
• Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease (Q38171457) (← links)
• Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders (Q38478012) (← links)
• Human Structural Variation: Mechanisms of Chromosome Rearrangements (Q38553771) (← links)
• Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene (Q38562231) (← links)
• Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism (Q38920757) (← links)
• Non-coding variation in disorders of sex development. (Q38995934) (← links)
• Birth of three stowaway-like MITE families via microhomology-mediated miniaturization of a Tc1/Mariner element in the yellow fever mosquito (Q40233541) (← links)
• Decoding NF1 Intragenic Copy-Number Variations. (Q41908846) (← links)
• Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy (Q41920270) (← links)
• Imprecision and DNA Break Repair Biased Towards Incompatible End Joining in Leukemia. (Q47340390) (← links)
• Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. (Q47888956) (← links)
• A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease (Q47902770) (← links)
• Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. (Q49052576) (← links)
• Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (Q49075196) (← links)
• A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. (Q51192735) (← links)
• Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability. (Q55058846) (← links)
• Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. (Q55278675) (← links)
• Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Q58087962) (← links)
• Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion (Q58798620) (← links)
• A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency (Q62659239) (← links)
• Complex DNA structures trigger copy number variation across the Plasmodium falciparum genome (Q63976815) (← links)
• Breakpoint junction features of seven DMD deletion mutations (Q90912850) (← links)
• Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations (Q90929514) (← links)
• ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants (Q91168951) (← links)
• β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA (Q92459814) (← links)
• Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature (Q92698683) (← links)
• The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56 (Q93012376) (← links)
• Genetics of HCC: Novel approaches to explore molecular diversity (Q95942040) (← links)
• Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR) (Q97653071) (← links)