Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
about
Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardationSnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in micePrader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterA deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismA paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeNon-coding RNAs in imprinted gene clusters.Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome.Snord116 is critical in the regulation of food intake and body weightMaternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.Human imprinting syndromes.Array painting using microdissected chromosomes to map chromosomal breakpoints.Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism.Mechanisms of obesity in Prader-Willi syndrome.Hypothalamus specific re-introduction of Snord116 into otherwise Snord116 deficient mice increased energy expenditure.Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay.Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.2012 William Allan Award: Adventures in cytogenetics.Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.Epigenetics and Human Disease.
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P2860
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
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2005 nî lūn-bûn
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2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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name
Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Molecular breakpoint cloning a ...... ted with Prader-Willi syndrome
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Birgitt Schüle
David I Francis
Emma Northrop
Howard R Slater
Margaret Rowell
R J McKinlay Gardner
Uta Francke
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P2888
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10.1186/1471-2350-6-18
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2005-05-06T00:00:00Z
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1049758281