Disease: Uniparental disomy- paternal- chromosome 14
- A case of segmental paternal isodisomy of chromosome 14
- A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
- A review of known imprinting syndromes and their association with assisted reproduction technologies
- Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
- Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes
- Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
- Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
- Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
- Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14
- Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)
- Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
- Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory
- DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer
- Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region
- Epigenetic detection of human chromosome 14 uniparental disomy
- Epigenetic inheritance associated with human chromosome 14
- Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
- Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
- First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15
- FISH Variants with D15Z1
- Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
- Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14
- Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome
- Hepatoblastoma in an infant with paternal uniparental disomy 14
- Imprinting of a small nucleolar RNA gene on mouse chromosome 12
- Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
- Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
- Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report
- Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
- Kagami-Ogata syndrome: a case report
- Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
- Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome
- Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome
- Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression
- Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
- Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype
- Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity
- Molecular and clinical studies in 8 patients with Temple syndrome
- Molecular characterization of temple syndrome families with 14q32 epimutations
- Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
- Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14
- Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14
- Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
- Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
- Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting
- Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12
- Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations
- Paternal uniparental disomy 14: introducing the "coat-hanger" sign
- Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation
- Paternal uniparental disomy for chromosome 14: a case report and review
- Paternal uniparental disomy for chromosome 14: prenatal management
- Paternal uniparental disomy of chromosome 14
- Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion
- Paternal Uniparental Disomy of Chromosome 14 with Hypospadias
- Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
- Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
- Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
- Paternal UPD14 is responsible for a distinctive malformation complex
- Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome
- Placentomegaly in paternal uniparental disomy for human chromosome 14
- Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
- Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome
- Prenatal diagnosis of Kagami-Ogata syndrome
- Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report
- Prenatal diagnostic indicators of paternal uniparental disomy 14
- Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome
- Prenatal findings of paternal uniparental disomy 14: Delineation of further patient
- Prenatal findings of paternal uniparental disomy 14: report of four patients
- Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter
- Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented
- Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome
- Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14
- Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
- Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
- Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
- Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features
- Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation
- Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
- Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy
- Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)
- Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms
- Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14
- Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos
- Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
- Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
- The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
- The gene locus encoding iodothyronine deiodinase type 3 (Dio3) is imprinted in the fetus and expresses antisense transcripts
- The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers
- The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction
- The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
- Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation
- Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis
- Uniparental disomies 7 and 14
- Uniparental disomy and prenatal phenotype: Two case reports and review
- UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
- West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
- When should evoke prenatal paternal uniparental disomy 14?