Disease: Uniparental disomy of 13
- "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
- A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
- Alstrom syndrome caused by maternal uniparental disomy
- Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results
- Case report: Disease phenotype associated with simultaneous biallelic mutations in <em>ABCA4</em> and <em>USH2A</em> due to uniparental disomy of chromosome 1
- Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1
- Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing
- Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
- Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome
- Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
- Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
- Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses
- Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
- Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience
- Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome
- Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature
- Copy number variation sequencing for the products of conception: What is the optimal testing strategy
- Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <em>ALOX12B</em> gene due to chromosome 17 mixed uniparental disomy
- Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
- Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome
- Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
- Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis
- Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
- Executive functioning in adolescents and adults with Silver-Russell syndrome
- Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates <em>LZTR1</em> in Disease Formation
- Expanding the Phenotype of B3GALNT2-Related Disorders
- First report of paternal uniparental disomy of chromosome 8 with <em>SLC52A2</em> mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
- First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
- From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research
- Gender bias in fetal malformations: A cross-sectional study in Asian populations
- Genetic analysis of recurrent parthenogenesis: A case report and literature review
- Genotype-Phenotype Correlations in Angelman Syndrome
- Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
- High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound
- Homozygosity for a Novel <em>DOCK7</em> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
- Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
- Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review
- Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
- Hyperprolactinemia in Adults with Prader-Willi Syndrome
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in the <em>ALOX12B</em> gene due to chromosome 17 mixed uniparental disomy
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
- Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
- Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
- Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
- iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
- Late first-trimester ultrasound findings can alter management after high-risk NIPT result
- 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
- Loss of Heterozygosity in the Tumor DNA of De Novo Diagnosed Patients Is Associated with Poor Outcome for B-ALL but Not for T-ALL
- Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
- 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 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell
- 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
- Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <em>SRD5A3</em>-Congenital Disorders of Glycosylation and <em>RP1</em>-Related Retinitis Pigmentosa
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
- Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
- Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
- Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues
- Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line
- National Rapid Genome Sequencing in Neonatal Intensive Care
- Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
- Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period
- Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan
- Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
- Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia
- Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
- Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome
- Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome
- Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis
- Prevalence and Phenotypic Impact of Robertsonian Translocations
- 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
- Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
- Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
- Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
- Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
- Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study
- Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China
- Small supernumerary marker chromosomes derived from chromosome 14 and/or 22
- Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
- The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis
- The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
- The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
- The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
- The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages
- The Italian registry for patients with Prader-Willi syndrome
- The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction
- Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome
- Uniparental disomy in a population of 32,067 clinical exome trios
- Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <em>TMCO1</em> and <em>PRKRA</em> genes
- Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes
- Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15
- Wilson's Disease-Genetic Puzzles with Diagnostic Implications