A new genetic concept: uniparental disomy and its potential effect, isodisomy.

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Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet (1993) 1.15

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Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet (1994) 1.07

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Res (2013) 1.06

Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem (2011) 1.03

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Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet (1997) 0.92

A non-coding RNA within the Rasgrf1 locus in mouse is imprinted and regulated by its homologous chromosome in trans. PLoS One (2010) 0.91

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet (2000) 0.91

Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics. Front Oncol (2014) 0.90

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Mol Vis (2007) 0.90

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Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet (1994) 0.88

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Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. J Inherit Metab Dis (2009) 0.86

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Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy. Mol Cytogenet (2014) 0.85

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. Am J Med Genet A (2010) 0.84

Multipoint genetic mapping with uniparental disomy data. Am J Hum Genet (2000) 0.84

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Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7. Epigenetics (2013) 0.84

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Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer. PLoS One (2010) 0.83

Segmental Maternal UPD6 with Prenatal Growth Restriction. Mol Syndromol (2012) 0.83

Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet (1997) 0.82

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A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. Case Rep Genet (2014) 0.81

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent. Haematologica (2012) 0.80

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet (1994) 0.80

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. Neurology (2008) 0.80

Uniparentalism in sporadic colorectal cancer is independent of imprint status, and coordinate for chromosomes 14 and 18. Cancer Genet Cytogenet (2009) 0.79

Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors. Mol Cancer (2014) 0.79

Reciprocal uniparental disomy in yeast. Proc Natl Acad Sci U S A (2012) 0.79

No evidence for uniparental disomy as a common cause of Sotos syndrome. J Med Genet (1997) 0.79

Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet (2014) 0.78

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Phenotypic spectrum in uniparental disomy: Low incidence or lack of study? Indian J Hum Genet (2013) 0.78

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur J Hum Genet (2011) 0.78

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Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer. Carcinogenesis (2015) 0.77

Prognostic relevance of acquired uniparental disomy in serous ovarian cancer. Mol Cancer (2015) 0.77

Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population. PLoS One (2012) 0.77

Performance of the Genomic Evaluators of Metastatic Prostate Cancer (GEMCaP) tumor biomarker for identifying recurrent disease in African American patients. Cancer Epidemiol Biomarkers Prev (2014) 0.77

Mother-child exclusion due to paternal uniparental disomy 6. Int J Legal Med (2006) 0.75

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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. Hum Genome Var (2014) 0.75

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Statistical models for trisomic phenotypes. Am J Hum Genet (1996) 0.75

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder. Clin Case Rep (2016) 0.75

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis. Ann Lab Med (2016) 0.75

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet (1991) 0.75

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability. Mol Cytogenet (2016) 0.75

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Acquired uniparental disomy of chromosome 9p in hematologic malignancies. Exp Hematol (2015) 0.75

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. Int J Obes (Lond) (2016) 0.75

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations. Mol Cytogenet (2015) 0.75

Uniparental isodisomy of chromosome 1 unmasking an autosomal recessive 3-beta hydroxysteroid dehydrogenase type II related congenital adrenal hyperplasia. J Clin Res Pediatr Endocrinol (2016) 0.75

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype. Exp Ther Med (2016) 0.75

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. Mol Syndromol (2017) 0.75

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