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disomy
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publication
Hypophosphatasia due to uniparental disomy
2015 |
Second Faculty of Medicine
publication
Acquired uniparental disomy in bone-marrow cells of patients with myelodysplastic syndrome and complex karyotype
2015 |
First Faculty of Medicine
publication
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation
2006 |
Second Faculty of Medicine
publication
Detection of deletions and uniparental disomies in Prader-Willi and Angelman syndromes - methodical and interpretational aspects
2000 |
Second Faculty of Medicine
publication
Detection of Deletions and Uniparental Disomies in prade-Willi and Angelman Syndromes - Methodical and Interpretational Aspects
2000 |
Central Library of Charles University, Second Faculty of Medicine
publication
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy
2015 |
First Faculty of Medicine, Central Library of Charles University
publication
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy
2016 |
Second Faculty of Medicine
publication
From cryptic chromosomal lesions to pathologically relevant genes: Integration of SNP-array with gene expression profiling in myelodysplastic syndrome with normal karyotype
2012 |
First Faculty of Medicine
publication
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy
2018 |
Second Faculty of Medicine
publication
Genomic imprinting and human pathology
2005 |
Third Faculty of Medicine
publication
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
2009 |
Second Faculty of Medicine
publication
Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes
2016 |
First Faculty of Medicine
publication
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Testicular sperm aneuploidy in non-obstructive azoospermic patients
2012 |
Third Faculty of Medicine
publication
Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases
2016 |
Faculty of Medicine in Pilsen
publication
Detection of chromosome changes by CGH, array-CGH and SNP array techniques in tumours
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Diagnostic possibilities of Prader-Willi and of Angelman syndromes
2005 |
Second Faculty of Medicine
publication
Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1
2010 |
Second Faculty of Medicine
publication
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
2023 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
publication
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
2024 |
Second Faculty of Medicine
publication
Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide
2003 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Molecular cytogenetic analysis of chromosomal aberrations in cells of low grade gliomas and its contribution for tumour classification
2014 |
First Faculty of Medicine
publication
Cystic and necrotic papillary renal cell carcinoma: prognosis, morphology, immunohistochemical, and molecular-genetic profile of 10 cases
2017 |
Faculty of Medicine in Pilsen