scholarly article | Q13442814 |
P356 | DOI | 10.1017/THG.2015.34 |
P698 | PubMed publication ID | 26045100 |
P2093 | author name string | Hui Sun | |
Jie Yang | |||
Bo Hu | |||
Ming Yan | |||
Chen Qiao | |||
Tanwei Wei | |||
P2860 | cites work | A Quantitative Measurement of the Human Somatic Mutation Rate | Q22065361 |
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q | Q24337564 | ||
Epigenetic differences arise during the lifetime of monozygotic twins | Q24531005 | ||
A mosaic activating mutation in AKT1 associated with the Proteus syndrome | Q24598593 | ||
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes | Q24600400 | ||
SOAP2: an improved ultrafast tool for short read alignment | Q28247469 | ||
Posterior polar cataract: genetic analysis of a large family | Q28280532 | ||
Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. | Q33844436 | ||
A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract | Q33916470 | ||
DNA methylation is associated with altered gene expression in AMD. | Q33939754 | ||
SNP detection for massively parallel whole-genome resequencing | Q34017409 | ||
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract | Q34136058 | ||
DNA methylation profiles in monozygotic and dizygotic twins. | Q34924376 | ||
Clinical and genetic heterogeneity in autosomal dominant cataract | Q35310688 | ||
The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH). | Q35848946 | ||
Evaluation of different cytomegalovirus (CMV) DNA PCR protocols for analysis of dried blood spots from consecutive cases of neonates with congenital CMV infections | Q36497909 | ||
The in vivo rate of somatic adenomatous polyposis coli mutation | Q36512253 | ||
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles | Q36718902 | ||
A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain | Q36773914 | ||
Somatic gene mutation and human disease other than cancer: an update | Q37732916 | ||
Down-regulation and CpG island hypermethylation of CRYAA in age-related nuclear cataract | Q39298160 | ||
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects | Q41140973 | ||
Comparison of spontaneous hprt mutation spectra at the nucleotide sequence level in the endogenous hprt gene and five other genomic positions | Q41206124 | ||
Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence | Q46428264 | ||
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. | Q51688227 | ||
Timing of de novo mutagenesis--a twin study of sodium-channel mutations. | Q51898937 | ||
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. | Q53304597 | ||
Attitudes towards and perceptions of visual loss and its causes among Hong Kong Chinese adults | Q80166692 | ||
Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report | Q81056601 | ||
Signalling: SRC and survival | Q83213561 | ||
The cell and molecular biology of complex forms of glaucoma: updates on genetic, environmental, and epigenetic risk factors | Q84075690 | ||
P433 | issue | 4 | |
P304 | page(s) | 393-398 | |
P577 | publication date | 2015-06-05 | |
P1433 | published in | Twin Research and Human Genetics | Q7858271 |
P1476 | title | Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract | |
P478 | volume | 18 |
Q47138529 | Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease |
Q38729492 | Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism |
Q91677253 | Systematic review of differential methylation in rare ophthalmic diseases |
Q40197489 | Whole-Exome Sequencing in Nine Monozygotic Discordant Twins |
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