• A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a <em>GALNT3</em> variant
• A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
• A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
• A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
• A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
• Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11
• Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment
• Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management
• Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype
• Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
• Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T&gt;A mutation of LIPH caused by maternal uniparental disomy of chromosome 3
• Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
• Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
• Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review
• 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 management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center
• Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy
• Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy
• Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review
• Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience
• Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome
• Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
• Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader-Willi Syndrome
• CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
• Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome
• Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
• Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results
• Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preecl
• Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis
• Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
• Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
• Dietary Management for Adolescents with Prader-Willi Syndrome
• Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas
• Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome
• Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15
• Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
• Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
• First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
• First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
• Frequent breakpoints of focal deletion and uniparental disomy in 22q11.1 or 11.2 segmental duplication region reveal distinct tumorigenesis in rhabdoid tumor of the kidney
• Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome
• Genetic analysis of recurrent parthenogenesis: A case report and literature review
• Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
• Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability
• Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
• Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome
• Genetic testing and analysis of 2 cases of trisomy 11 mosaicism
• Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
• Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
• High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects
• Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior
• Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11
• Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism
• Investigation of age-related facial variation among Angelman syndrome patients
• Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
• Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome
• Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome
• 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 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the
• Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome
• Maternal <em>GNAS</em> Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner
• Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation
• Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development
• Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation
• Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
• 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
• Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
• Novel Variant in <em>PLAG1</em> in a Familial Case with Silver-Russell Syndrome Suspicion
• Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
• Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles
• Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome
• Pitfalls and management of corrective spinal surgery in trisomy 9 mosaicism: a report of three cases
• Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome
• Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome
• Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics
• Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy
• Prenatal diagnosis and genetic counseling of uniparental disomy
• 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 fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study
• Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
• Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy
• Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis in a pregnancy with a favorable outcome
• 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
• Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
• Short Stature Syndromes: Case Series from India
• Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China
• Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
• Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
• Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects an
• The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
• The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
• The Italian registry for patients with Prader-Willi syndrome
• Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome
• Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
• Uniparental disomy is a chromosomic disorder in the first place
• Uniparental disomy: Origin, frequency, and clinical significance
• Whole-exome analysis of 177 pediatric patients with undiagnosed diseases