Found: 20
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Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation.
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- Journal of Cellular Biochemistry, 2009, v. 106, n. 6, p. 1123, doi. 10.1002/jcb.22096
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- Article
The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain.
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- Human Genetics, 2003, v. 112, n. 3, p. 220, doi. 10.1007/s00439-002-0891-3
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- Article
Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis.
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- Frontiers in Systems Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnsys.2014.00221
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- Article
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12.
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- Journal of Human Genetics, 2010, v. 55, n. 2, p. 124, doi. 10.1038/jhg.2009.131
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- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Article
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.
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- Journal of Human Genetics, 2008, v. 53, n. 1, p. 34, doi. 10.1007/s10038-007-0214-6
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- Article
Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 236, doi. 10.1007/s10038-005-0351-8
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- Article
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
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- Journal of Human Genetics, 2006, v. 51, n. 1, p. 38, doi. 10.1007/s10038-005-0319-8
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- Article
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.
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- Journal of Human Genetics, 2004, v. 49, n. 8, p. 440, doi. 10.1007/s10038-004-0166-z
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- Article
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
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- Journal of Human Genetics, 2004, v. 49, n. 7, p. 360, doi. 10.1007/s10038-004-0158-z
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- Article
Phenotype–genotype correlation in two patients with 12q proximal deletion.
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- Journal of Human Genetics, 2004, v. 49, n. 5, p. 282, doi. 10.1007/s10038-004-0144-5
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- Article
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
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- Journal of Human Genetics, 2004, v. 49, n. 2, p. 80, doi. 10.1007/s10038-003-0111-6
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- Article
On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting?
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- Journal of Human Genetics, 2003, v. 48, n. 9, p. 492, doi. 10.1007/s10038-003-0061-z
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- Article
Nonaka myopathy is caused by mutations in the UDP- N-acetylglucosamine-2- epimerase/ N-acetylmannosamine kinase gene ( GNE).
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- Journal of Human Genetics, 2002, v. 47, n. 2, p. 77, doi. 10.1007/s100380200004
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- Article
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2511, doi. 10.1093/hmg/ddi255
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- Article
Heterozygous TGFBR2 mutations in Marfan syndrome.
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- Nature Genetics, 2004, v. 36, n. 8, p. 855, doi. 10.1038/ng1392
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- Article
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
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- Journal of Biochemistry, 2023, v. 174, n. 6, p. 561, doi. 10.1093/jb/mvad074
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- Article
Transgenic mice with a tandem duplication of the Necdin gene overexpress Necdin.
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- Mammalian Genome, 2018, v. 29, n. 9/10, p. 680, doi. 10.1007/s00335-018-9784-1
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- Article
Decreased Tonic Inhibition in Cerebellar Granule Cells Causes Motor Dysfunction in a Mouse Model of Angelman Syndrome.
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- Science Translational Medicine, 2012, v. 4, n. 163, p. 1, doi. 10.1126/scitranslmed.3004655
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- Article
A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.
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- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01258-1
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- Article