Disease: Uniparental disomy
- "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
- 11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <em>GALNT3</em> variant
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant
- A Case of Maternal Uniparental Disomy of Chromosome 6 with Intrauterine Growth Restriction
- A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction
- A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
- A Fetus with Maternal Uniparental Disomy on Chromosome 20: Case Report with Genetic Analysis and Prenatal Diagnosis
- An Atypical 15q11.2 Microdeletion Not Involving <em>SNORD116</em> Resulting in Prader-Willi Syndrome
- An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
- Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs
- ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease
- Beckwith-Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature
- Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations
- Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup
- Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
- Bone health in children with Angelman syndrome at the ENCORE Expertise Center
- Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
- Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in <em>PARD6G-AS1</em> promotor in a case with arthrogryposis
- Case report: Paternal uniparental disomy on chromosome 7 and homozygous <em>SUGCT</em> mutation in a fetus with overweight after birth
- Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth
- Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
- Characterizing the Immune Microenvironment and Neoantigen Landscape of Hürthle Cell Carcinoma to Identify Potential Immunologic Vulnerabilities
- Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing
- Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
- Clinical and genetic analysis of a child with maternal uniparental disomy of chromosome 20
- Clinical characterization of PLAG1- related Silver-Russell syndrome:A clinical report
- Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses
- Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A
- Clinical Significance of Application of Chromosomal Karyotyping of Villus Tissues
- Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
- Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
- Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome
- Common and distinct patterns of acquired uniparental disomy and homozygous deletions between lung squamous cell carcinomas and lung adenocarcinoma
- Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
- Copy number variation sequencing for the products of conception: What is the optimal testing strategy
- Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
- Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome
- Effect of uniparental disomy in parentage testing
- Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates <em>LZTR1</em> in Disease Formation
- Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
- Generation of an induced pluripotent stem cell line, ZIPi021-A, from fibroblasts of a Prader-Willi syndrome patient with maternal uniparental disomy (mUPD)
- Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
- Genetic origin analysis of regions of homozygosity in three cases
- Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
- Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China
- High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound
- High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation
- Hormonal Imbalances in Prader-Willi and Schaaf-Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals
- Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior
- Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review
- Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
- Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
- Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
- Isolated polyhydramnios: Is a genetic evaluation of value?
- Late first-trimester ultrasound findings can alter management after high-risk NIPT result
- Lee S, Shin CH, Lee J, et al. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. 2021;138(21):2117-2128
- Leukemic conversion involving <em>RAS</em> mutations of type 1 <em>CALR</em>-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report
- Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
- Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amni
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
- Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
- Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review
- Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature
- Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes a
- Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication
- Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome
- MPO Expression of Background Neutrophils in MPO Negative Acute Promyelocytic Leukemia, An Easy Clue to Corroborate a Challenging Diagnosis: A Case Report and Review of Literature
- National Rapid Genome Sequencing in Neonatal Intensive Care
- Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome
- Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias
- Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error
- Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases
- Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
- Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome
- Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
- Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study
- Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis
- Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies
- Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies
- Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
- Small supernumerary marker chromosomes derived from human chromosome 11
- SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory
- Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review
- Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion
- The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
- The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder
- Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
- Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene
- Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
- Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
- Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15