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chromosome 16

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

... Results: Although clinical panel sequencing of genes implicated in nephrotic syndromes yielded no likely causal mutation, an oligo-SNP microarray identified a ~20-Mb region of homozygosity, with no altered gene dosage, ...

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Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

... We then searched for parent-of-origin biases in methylation, which we defined as an absolute difference in percent methylation of at least 40 between upd(16)mat and upd(16)pat with intermediate methyla- ...

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Case Report Osteopetrosis complicated by schizophrenia results from mutations on Chromosome 16

Case Report Osteopetrosis complicated by schizophrenia results from mutations on Chromosome 16

... Our patient has an identified mutation of CLCN7 at 16p13.3, which allows for a genetic diag- nosis of chromosome 16 (CLCN7) mutation induced ADO subtype II. Concurrent diagnosis of schizophrenia with ...

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Two Quantitative Trait Loci for Prepulse Inhibition of Startle Identified on Mouse Chromosome 16 Using Chromosome Substitution Strains

Two Quantitative Trait Loci for Prepulse Inhibition of Startle Identified on Mouse Chromosome 16 Using Chromosome Substitution Strains

... CSS- 16 line, which is homosomic A/J for chromosome 16, compared to ...particular chromosome. The chromosome 16 PPI genes appear to greatly enhance PPI, whereas the summation of ...

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Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

... UPD occurs when both members of a particular chromosome pair derive from the same parent and there is no contribution from the other parent. Case 14 was identified to have maternal iUPD(16), with the ...

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Identifying association under a previous linkage peak on chromosome 16 for body mass index using cross sectional and longitudinal data of the Framingham Heart Study

Identifying association under a previous linkage peak on chromosome 16 for body mass index using cross sectional and longitudinal data of the Framingham Heart Study

... On chromosome 16, the second most significant p -value and several tentative associations was observed under the previous identified linkage region, and the evidence for association were consis- tently ...

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Bipolar affective puerperal psychosis  genome wide significant evidence for linkage to chromosome 16

Bipolar affective puerperal psychosis genome wide significant evidence for linkage to chromosome 16

... In summary, we report the first systematic genome scan aimed at localizing genes that influence susceptibility to bipolar affective puerperal psychosis and provide further support for the hypothesis that this is a ...

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Identification of a cellular receptor for mouse mammary tumor virus and mapping of its gene to chromosome 16.

Identification of a cellular receptor for mouse mammary tumor virus and mapping of its gene to chromosome 16.

... 140-147 0022-538X/83/010140-08$02.00/0 Copyright C 1983, American Society for Microbiology Identification of a Cellular Receptor for Mouse Mammary Tumor Virus and Mapping of Its Gene to [r] ...

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FoxO1 Suppresses Kaposi’s Sarcoma-Associated Herpesvirus Lytic Replication and Controls Viral Latency

FoxO1 Suppresses Kaposi’s Sarcoma-Associated Herpesvirus Lytic Replication and Controls Viral Latency

... artificial chromosome 16 (RGB-BAC16) system, which effec- tively tracks the expression of KSHV latent and lytic genes based on the expression of monomeric red fluorescent protein 1 (mRFP1) and enhanced green ...

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Common Beta-Thalassemia Mutation and virological study of Beta -thalassemic patients. Review Article

Common Beta-Thalassemia Mutation and virological study of Beta -thalassemic patients. Review Article

... Two genes located on chromosome 16 are responsible of alpha globin gene production Alpha globin gene deficiency is always cause by deletion of one or more gene Alpha t[r] ...

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Aneuploidy as a mechanism for stress induced liver adaptation

Aneuploidy as a mechanism for stress induced liver adaptation

... To test this hypothesis, we utilized a genetic liver disease model, hereditary tyrosinemia type I, caused by deficiency of fumarylace- toacetate hydrolase (FAH) (ref. 20 and Figure 1A). We (21) and others (22) have ...

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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications

... of chromosome 16 is also rich in intra- chromosomal segmental duplications, which predispose this area to ...of chromosome instability (CIN) was also recently reported in human cleavage-stage em- ...

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Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

... Two regions showing over twice as much evidence for association under the structured effects model compared to the fixed effects model were on chromosome 16 in the large gene CDH13 , whe[r] ...

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Biclonal myelodysplastic syndrome involving six chromosomes and monoallelic loss of RB1 - A rare case

Biclonal myelodysplastic syndrome involving six chromosomes and monoallelic loss of RB1 - A rare case

... Karyotyping was done after the initiation of the treat- ment which showed a mosaic and biclonal karyotype with 45, XY, -4, der(6)t(4;6)(?;?), der(8)t(4;8)(?;?), t(13;16) (?;?)/45, XY, der(7)t(7;13)(?;?),-13 (Figure 1), ...

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Comparative analysis of individual chromosome involvement in micronuclei induced by mitomycin C and bleomycin in human leukocytes

Comparative analysis of individual chromosome involvement in micronuclei induced by mitomycin C and bleomycin in human leukocytes

... determine chromosome damage [37 – ...interphase chromosome order during mitosis ...on chromosome position in interphase, determining the DNA accessibility to muta- ...

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A Rare Case of Myeloid Sarcoma Presenting as an Anorectal Ulcer

A Rare Case of Myeloid Sarcoma Presenting as an Anorectal Ulcer

... In the following few days, the results of the peripheral blood smear and pathology returned. The smear contained 5% blasts. The biopsy from the anal ulcer depicted squamous mucosa with ulceration and submucosal atypical ...

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THE LOCUS FOR HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE ON CHROMOSOME NO. 16

THE LOCUS FOR HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE ON CHROMOSOME NO. 16

... (d) Additional submetacentrics, presumed to be 16q-translocation chromosomes, from ACAS]- selected subclones of hybrid 722.2.. meric fusion of mouse and human chromosomes occurred[r] ...

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Sex-Specific Quantitative Trait Loci Govern Susceptibility to Theiler’s Murine Encephalomyelitis Virus-Induced Demyelination

Sex-Specific Quantitative Trait Loci Govern Susceptibility to Theiler’s Murine Encephalomyelitis Virus-Induced Demyelination

... of chromosome chromosomes 1, 5, 15, and 16 controlling disease sever- 1 in male and female populations with opposite additive ity in males, while two QTL on chromosome 1 influence severity in ...

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A restriction fragment length polymorphism map and electrophoretic karyotype of the fungal maize pathogen Cochliobolus heterostrophus.

A restriction fragment length polymorphism map and electrophoretic karyotype of the fungal maize pathogen Cochliobolus heterostrophus.

... All show identical chro- mosome hybridization patterns for probes specific for chromosome arms associated with Toxl; six lack chro- mosome 16, as does Hm540 (H.-R. BRONSON[r] ...

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Sonographic lenticulostriate vasculopathy in infants: some associations and a hypothesis

Sonographic lenticulostriate vasculopathy in infants: some associations and a hypothesis

... Summing all 130 patients of the series in the literature and ours, 85 cases belonged to group I, 9 to group II, and 36 to group III (Table 1). Basal meningitis with involvement of deep per- forating vasculature has been ...

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