Works matching DE "HUMAN chromosome 15"
Results: 29
Angelman syndrome - A rare case report.
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- Indian Journal of Public Health Research & Development, 2011, v. 2, n. 1, p. 78
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- Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
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- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075
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- Article
p15<sup>Ink4b</sup> is a critical tumour suppressor in the absence of p16<sup>Ink4a</sup>.
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- Nature, 2007, v. 448, n. 7156, p. 943, doi. 10.1038/nature06084
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- Article
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13.
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- Human Genetics, 2002, v. 110, n. 3, p. 227, doi. 10.1007/s00439-002-0678-6
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- Article
Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH.
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- Cytogenetic & Genome Research, 2007, v. 119, n. 1/2, p. 165, doi. 10.1159/000109635
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- Article
A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6.
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- Cytogenetic & Genome Research, 2007, v. 119, n. 1/2, p. 154, doi. 10.1159/000109633
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- Article
Molecular evolution of the human chromosome 15 pericentromeric region.
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- Cytogenetic & Genome Research, 2005, v. 108, n. 1-3, p. 73, doi. 10.1159/000080804
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- Article
HUMAN GENETICS: Does duplicity make you anxious?
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- Nature Reviews Genetics, 2001, v. 2, n. 10, p. 738, doi. 10.1038/35093523
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- Article
Syntenic assignment of CD3G to bovine chromosome 15.
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- Animal Genetics, 1999, v. 30, n. 1, p. 67, doi. 10.1046/j.1365-2052.1999.00323-3.x
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- Article
Frequent loss of heterozygosity in the β2-microglobulin region of chromosome 15 in primary human tumors.
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- Immunogenetics, 2011, v. 63, n. 2, p. 65, doi. 10.1007/s00251-010-0494-4
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- Article
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
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- Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 126, doi. 10.1159/000015086
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- Article
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 337, doi. 10.1111/j.1399-0004.2012.01931.x
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- Article
Letter to the Editor Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome.
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- 2004
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- Publication type:
- Letter
CHRFAM7A: a human-specific α7-nicotinic acetylcholine receptor gene shows differential responsiveness of human intestinal epithelial cells to LPS.
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- FASEB Journal, 2015, v. 29, n. 6, p. 2292, doi. 10.1096/fj.14-268037
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- Article
ASAR15, A cis-Acting Locus that Controls Chromosome-Wide Replication Timing and Stability of Human Chromosome 15.
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- PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004923
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- Article
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and containsan upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 337, doi. 10.1093/hmg/8.2.337
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- Article
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168
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- Article
PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis.
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- European Journal of Human Genetics, 2003, v. 11, n. 5, p. 357, doi. 10.1038/sj.ejhg.5200966
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- Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
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- Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
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- Article
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
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- Nature Genetics, 2010, v. 42, n. 10, p. 864, doi. 10.1038/ng.660
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- Article
Conservation of genomic imprinting at the NDN, MAGEL2 and MEST loci in pigs.
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- Genes & Genetic Systems, 2012, v. 87, n. 1, p. 53, doi. 10.1266/ggs.87.53
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- Article
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
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- 2013
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- Case Study
Centromeric association of small supernumerary marker chromosomes with their sisterchromosomes detected by three dimensional molecular cytogenetics.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 15, doi. 10.1186/1755-8166-5-15
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- Article
Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.
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- Biochemical Society Transactions, 2013, v. 41, n. 3, p. 721, doi. 10.1042/BST20130008
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- Article
Retention of the duplicated cellular retinoic acid-binding protein 1 genes ( crabp1a and crabp1b) in the zebrafish genome by subfunctionalization of tissue-specific expression.
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- FEBS Journal, 2005, v. 272, n. 14, p. 3561, doi. 10.1111/j.1742-4658.2005.04775.x
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- Article
Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains.
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- Mammalian Genome, 2005, v. 16, n. 8, p. 578, doi. 10.1007/s00335-004-2459-0
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- Article
FISH analysis of chromosome segregation in spermatozoa of a t(1;15)(q21;p12) carrier: predictive test for PGD.
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- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-43
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- Article
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
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- BMC Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2156-9-2
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- Article
Decreased Exploratory Activity in a Mouse Model of 15q Duplication Syndrome; Implications for Disturbance of Serotonin Signaling.
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- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015126
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- Article