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Search Results to Rosanna Weksberg

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Weksberg, Rosanna

Item TypeName
Concept Chromosomes, Human, Pair 15
Concept X Chromosome Inactivation
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Y
Concept Sex Chromosomes
Concept Chromosomes, Human, Pair 16
Concept Chromosome Banding
Concept Chromosomes, Human
Concept Chromosome Breakage
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosome Fragility
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
Concept Chromosomes
Concept Chromosome Duplication
Concept Chromosomes, Human, Pair 4
Concept Chromosome Painting
Concept Chromosome Mapping
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 7
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosomes, Human, Pair 9
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Concept Chromosome Fragile Sites
Academic Article Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
Academic Article Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.
Academic Article The schizophrenia phenotype in 22q11 deletion syndrome.
Academic Article Postmaturity in a genetic subtype of schizophrenia.
Academic Article The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.
Academic Article Beckwith-Wiedemann syndrome.
Academic Article Clinical features of 78 adults with 22q11 Deletion Syndrome.
Academic Article Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Academic Article Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11.
Academic Article A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
Academic Article An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Academic Article New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
Academic Article Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.
Academic Article Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.
Academic Article Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
Academic Article Growth regulation, imprinted genes, and chromosome 11p15.5.
Academic Article Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
Academic Article Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
Academic Article Structural variation of chromosomes in autism spectrum disorder.
Academic Article C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.
Academic Article Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.
Academic Article Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Academic Article Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Academic Article Autism spectrum disorders and epigenetics.
Academic Article Imprinted genes and human disease.
Academic Article Beckwith-Wiedemann syndrome.
Academic Article Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Academic Article Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.
Academic Article 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Academic Article Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Academic Article Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Academic Article Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination.
Academic Article Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Academic Article Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Academic Article Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.
Academic Article 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
Academic Article Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray.
Academic Article Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Academic Article Molecular findings in Beckwith-Wiedemann syndrome.
Academic Article Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
Academic Article High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Academic Article A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Academic Article Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
Academic Article Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
Academic Article Clinically relevant copy number variations detected in cerebral palsy.
Academic Article TGF-ß/ß2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Academic Article EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Academic Article Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Academic Article Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.
Academic Article Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Academic Article Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.
Academic Article Bridging markers defining the map position of X linked hypophosphataemic rickets.
Academic Article A dominantly inherited cytogenetic anomaly: a possible cell division mutant.
Academic Article Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development.
Academic Article Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
Academic Article Variant translocations of chromosome 22 in Ewing's sarcoma.
Academic Article Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.
Academic Article Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20.
Academic Article Wiedemann-Beckwith syndrome: genomic imprinting revisited.
Academic Article Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.
Academic Article Wilms tumor in a patient with Prader-Willi syndrome.
Academic Article Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Academic Article Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
Academic Article Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
Academic Article Molecular biology of Beckwith-Wiedemann syndrome.
Academic Article FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
Academic Article Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4.
Academic Article Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas.
Academic Article Molecular genetics of Beckwith-Wiedemann syndrome.
Academic Article Overgrowth syndromes and genomic imprinting: from mouse to man.
Academic Article 22q11 deletion syndrome in adults with schizophrenia.
Academic Article A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
Academic Article Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.
Academic Article Phenotype of adults with the 22q11 deletion syndrome: A review.
Academic Article Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.
Academic Article Alström syndrome: further evidence for linkage to human chromosome 2p13.
Academic Article Chromosomal abnormalities and schizophrenia.
Academic Article Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
Academic Article Analphoid 3qter markers.
Academic Article Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
Academic Article Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia.
Academic Article GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
Academic Article Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome.
Academic Article Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Academic Article Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.
Academic Article Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.
Academic Article Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Academic Article Detecting rearrangements in children using subtelomeric FISH and SKY.
Academic Article Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Academic Article Schizophrenia and genetics: new insights.
Academic Article Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
Academic Article Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
Academic Article Human chromosome 7: DNA sequence and biology.
Academic Article Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Academic Article Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
Academic Article The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome.

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  • Chromosomes