| scholarly article | Q13442814 |
| P50 | author | Hakon Hakonarson | Q30003940 |
| P2093 | author name string | Dinah Clark | |
| Ian D Krantz | |||
| Maninder Kaur | |||
| Matthew A Deardorff | |||
| Elaine H Zackai | |||
| Lindsey Campbell | |||
| Laura K Conlin | |||
| Nancy B Spinner | |||
| Kosuke Izumi | |||
| Alisha Wilkens | |||
| Phillip Pallister | |||
| P2860 | cites work | Genotype/phenotype analysis in a patient with pure and complete trisomy 12p | Q57135403 |
| Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection | Q28248722 | ||
| Pallister-Killian syndrome: cytogenetic and molecular studies | Q28283068 | ||
| Parental age, and how extra isochromosomes (secondary trisomy) arise | Q28301886 | ||
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis | Q35135033 | ||
| Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis | Q35946886 | ||
| FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation | Q36193571 | ||
| Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations | Q37961250 | ||
| Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome | Q41631204 | ||
| Centromere cleavage is a mechanism underlying isochromosome formation in skin and head and neck carcinomas | Q42498268 | ||
| A genome-wide scalable SNP genotyping assay using microarray technology | Q46111789 | ||
| Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. | Q51913161 | ||
| aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. | Q51937119 | ||
| Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p. | Q51940607 | ||
| Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. | Q52002783 | ||
| High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. | Q53501423 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 3046-3053 | |
| P577 | publication date | 2012-11-20 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. | |
| P478 | volume | 158A |
| Q34339935 | A genomic view of mosaicism and human disease |
| Q35667141 | Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis |
| Q38966411 | Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients |
| Q54859359 | Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. |
| Q38601700 | Detection of structural mosaicism from targeted and whole-genome sequencing data |
| Q34351576 | Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome |
| Q36862641 | Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. |
| Q40378870 | Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. |
| Q38271472 | Pallister-Killian syndrome |
| Q87871732 | Pallister-Killian syndrome |
| Q42223648 | Pallister-Killian syndrome in a two-year-old boy |
| Q56522446 | Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases |
| Q39073053 | Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood |
| Q92899167 | Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature |
| Q93186612 | Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples |
| Q58564726 | Small supernumerary marker chromosomes: A legacy of trisomy rescue? |
| Q27016060 | Somatic mosaicism: implications for disease and transmission genetics |
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