| scholarly article | Q13442814 |
| P50 | author | Albert de la Chapelle | Q5618748 |
| P2093 | author name string | P Peltomäki | |
| S Knuutila | |||
| A Ritvanen | |||
| I Kaitila | |||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 399-405 | |
| P577 | publication date | 1987-06-01 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Pallister-Killian syndrome: cytogenetic and molecular studies | |
| P478 | volume | 31 |
| Q38979398 | 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome |
| Q54941713 | A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature. |
| Q93088307 | Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome |
| Q35033863 | American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation |
| Q53067631 | Cardiac manifestations of Pallister-Killian syndrome. |
| Q38966411 | Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients |
| Q53534557 | Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype. |
| Q35752633 | Genetic factors in congenital diaphragmatic hernia |
| Q34351576 | Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome |
| Q38010219 | Marker chromosomes |
| Q36862641 | Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. |
| Q36779238 | Molecular cytogenetic study of patients with Pallister-Killian syndrome |
| Q52375104 | Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes. |
| Q56522446 | Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases |
| Q74457825 | Pallister-Killian syndrome: difficulties of prenatal diagnosis |
| Q36720578 | Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts |
| Q28238337 | Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics |
| Q28140943 | Pathogenesis of chromosomal mosaicism and its effect on early human development |
| Q39073053 | Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood |
| Q34073503 | Piecing together the problems in diagnosing low-level chromosomal mosaicism |
| Q93186612 | Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples |
| Q52002783 | Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. |
| Q40966668 | Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear |
| Q28248722 | Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection |
| Q34164134 | Review and hypotheses: somatic mosaicism: observations related to clinical genetics |
| Q33596593 | Tetrasomy 12p (Pallister-Killian syndrome). |
| Q41436852 | The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome |
| Q50487484 | Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. |
| Q36335223 | Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence |
| Q37411365 | Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome |
| Q53133108 | Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. |
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