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| SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology | Journal of molecular neuroscience | | | 2010 | 625 | 0 |
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| Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype | The Journal of immunology | | | 2009 | 540 | 0 |
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| TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness | Frontiers in bioscience | | | 2008 | 948 | 868 |
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| Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity | Immunity | | | 2008 | 667 | 147 |
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| An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss | Human mutation | | | 2008 | 605 | 0 |
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| Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis | Proceedings of the National Academy of Sciences of the United States of America | | | 2005 | 687 | 0 |
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| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human mutation | | | 2004 | 693 | 0 |
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| Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12 | Gene | | | 2003 | 664 | 0 |
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| The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion | Cytogenetic and genome research | | | 2003 | 600 | 0 |
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| In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis | Blood | | | 2002 | 671 | 0 |
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| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Human molecular genetics | | | 2002 | 665 | 0 |
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| Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | Journal of molecular medicine | | | 2002 | 688 | 0 |
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| Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness | Human mutation | | | 2001 | 668 | 1 |
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| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness | Journal of medical genetics | | | 2001 | 577 | 0 |
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| APECED mutations in the autoimmune regulator (AIRE) gene | Human mutation | | | 2001 | 552 | 0 |
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| A cSNP map and database for human chromosome 21 | Genome research | | | 2001 | 534 | 0 |
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| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains | Human genetics | | | 2001 | 663 | 0 |
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| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Nature genetics | | | 2001 | 656 | 0 |
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| Differential gene expression studies to explore the molecular pathophysiology of Down syndrome | European journal of pediatrics | | | 2001 | 609 | 0 |
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| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | | 2001 | 653 | 1 |
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| Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome | Human molecular genetics | | | 2000 | 636 | 0 |
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| RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse | European Journal of Immunology | | | 2000 | 618 | 0 |
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| Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein | Genomics | | | 2000 | 563 | 0 |
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| Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family | Genomics | | | 2000 | 674 | 0 |
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| Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region | Genomics | | | 2000 | 627 | 0 |
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| Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency | Genomics | | | 2000 | 546 | 1 |
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| The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein | The Journal of biological chemistry | | | 2000 | 652 | 0 |
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| The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals | Genome research | | | 2000 | 584 | 0 |
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| C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning | Genomics | | | 2000 | 652 | 0 |
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| Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3 | Advances in oto-rhino-laryngology | | | 2000 | 507 | 0 |
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| Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla | Biochemical and biophysical research communications | | | 1999 | 656 | 0 |
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| Mutation analyses of North American APS-1 patients | Human mutation | | | 1999 | 663 | 0 |
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| Linearization and purification of BAC DNA for the development of transgenic mice | Transgenic research | | | 1999 | 538 | 0 |
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| A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y | Human genetics | | | 1999 | 671 | 0 |
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| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations | American journal of human genetics | | | 1999 | 622 | 0 |
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| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) | Human genetics | | | 1999 | 720 | 0 |
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| Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 | Human molecular genetics | | | 1999 | 582 | 0 |
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| Isolation and characterization of the mouse Aire gene | Biochemical and biophysical research communications | | | 1999 | 625 | 0 |
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| A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients | Human genetics | | | 1998 | 622 | 0 |
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| Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2) | Genomics | | | 1998 | 610 | 0 |
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| Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2 | Cytogenetics and cell genetics | | | 1998 | 577 | 0 |
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| APECED: a monogenic autoimmune disease providing new clues to self-tolerance | Immunology today | | | 1998 | 551 | 0 |
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| A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset | American journal of human genetics | | | 1998 | 564 | 0 |
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| Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis | Genomics | | | 1998 | 617 | 0 |
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| Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon | Genomics | | | 1998 | 635 | 0 |
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| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins | Molecular endocrinology | | | 1998 | 632 | 0 |
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| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | | 1998 | 589 | 0 |
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| Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 | Genomics | | | 1998 | 599 | 0 |
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| Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence | Human genetics | | | 1998 | 578 | 0 |
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| Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 | Human genetics | | | 1997 | 553 | 0 |
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| Positional cloning of the APECED gene | Nature genetics | | | 1997 | 709 | 1 |
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| Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region | Genome research | | | 1997 | 598 | 0 |
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| TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis | The Journal of biological chemistry | | | 1997 | 666 | 0 |
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| Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3 | Genomics | | | 1997 | 646 | 0 |
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| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | | 1997 | 673 | 0 |
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| Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3 | Biochemical and biophysical research communications | | | 1997 | 535 | 0 |
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| Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee | Genomics | | | 1997 | 656 | 0 |
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| Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 | Human genetics | | | 1997 | 595 | 0 |
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| What is expanded in progressive myoclonus epilepsy? | Nature genetics | | | 1997 | 590 | 0 |
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