Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
about
Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axisCurrent status of human chromosome 14Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.Structural conservation versus functional divergence of maternally expressed microRNAs in the Dlk1/Gtl2 imprinting region.At least ten genes define the imprinted Dlk1-Dio3 cluster on mouse chromosome 12qF1Genome-wide prediction of imprinted murine genesMice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposityNeuroendocrine mechanisms controlling female puberty: new approaches, new concepts.Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.Inhibition of adipogenesis and development of glucose intolerance by soluble preadipocyte factor-1 (Pref-1).American College of Medical Genetics statement of diagnostic testing for uniparental disomyA Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.Loss of non-coding RNA expression from the DLK1-DIO3 imprinted locus correlates with reduced neural differentiation potential in human embryonic stem cell lines.Role of type 3 deiodinase in cancer.Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region.Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.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.Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction.Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.Mouse Peg9/Dlk1 and human PEG9/DLK1 are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse Meg3/Gtl2 and human MEG3.Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.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.Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
P2860
Q24319029-1B51B2F4-7F96-4CFF-8B14-7ECCB87D7AFFQ24679620-D7C11B8A-F239-43F7-A8C8-B85BCE8883FCQ30850473-8C8B2EEB-2E7B-40A1-BC8F-FE1B7BF0CD09Q31116742-8BE35200-A24D-4021-A78F-2918414F9E47Q33354635-501F140E-56EB-4EC7-A852-145768AF0F89Q33405733-D0033891-8B7A-4EF1-B7F2-FB9DD6A346A1Q33841575-9DAA13C8-AE0D-4E73-B896-5292CDA6F9EDQ34284044-C8D5B8E7-66C9-4DAD-AE61-F876A75F367CQ34492688-57DD3E18-F2BC-4D02-A885-5081A9358C6DQ34568959-985107C3-0570-4783-8F18-9D8C32884E6FQ34837133-7B8B9213-F4C7-4FA4-8781-1500C45ABC86Q35034233-FACA10CA-ECE9-4E84-9CA5-8583056B359CQ35163493-34E69FE9-CC64-4DBA-A728-EE970D7F09C0Q35562665-CD039C9E-57C6-48F5-8F15-EC2D06417461Q37599892-4EDED860-418E-4A8C-8693-49FB51827157Q40415818-6F492CC7-842F-40BE-90DF-AD41234512A5Q40592888-F0AF06FE-55FE-4F8B-9BEE-D19C3AD7A23BQ40654064-8E61433E-AA04-410D-A5ED-BFD62A8360E8Q41110921-C3C57BAF-B66B-428B-8745-2A6AC57F8C0CQ41815117-7A93C236-9C5B-4FA5-A8A5-1CC85076B537Q42063621-7F27A999-E29D-4F59-B178-9C24262CA7EBQ44192328-AEFD0285-67A9-41CE-95C3-9FBA13529D8FQ45342636-0B93AA38-D58A-4C97-A7BF-C7D18CFEC8ADQ47618825-3CEDEBEA-99A4-4235-BD10-6204AB6940DDQ48382320-590F01C2-01A0-4BFC-B629-DEB7FAD23817Q53100680-E30F77E0-00FA-4090-8117-A19EF57F911BQ53358942-1C53B14C-A906-4923-8C34-ECA1770A6A51Q54414359-2FFEB7CC-5923-4722-A5DD-EDD99A4F1492
P2860
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@ast
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@en
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@nl
type
label
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@ast
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@en
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@nl
prefLabel
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@ast
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@en
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@nl
P2860
P1476
Search for imprinted regions o ...... ses of chromosome 14 deletion.
@en
P2093
P2860
P304
P356
10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9
P577
2000-08-01T00:00:00Z