Scott, Hamish Steele | Archive ouverte UNIGE

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Title	Published in	Year	Views	Downloads

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice	Neuroreport	2010	607	582
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	616	0
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	531	0
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness	Frontiers in bioscience	2008	934	746
Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity	Immunity	2008	659	147
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss	Human mutation	2008	596	0
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis	Proceedings of the National Academy of Sciences of the United States of America	2005	679	0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	684	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	655	0
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion	Cytogenetic and genome research	2003	592	0
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	663	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	656	0
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Journal of molecular medicine	2002	680	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	659	1
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness	Journal of medical genetics	2001	568	0
APECED mutations in the autoimmune regulator (AIRE) gene	Human mutation	2001	544	0
A cSNP map and database for human chromosome 21	Genome research	2001	525	0
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains	Human genetics	2001	654	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	647	0
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome	European journal of pediatrics	2001	600	0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Genomics	2001	645	1
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	627	0
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse	European Journal of Immunology	2000	610	0
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein	Genomics	2000	555	0
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	666	0
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	619	0
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	538	1
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein	The Journal of biological chemistry	2000	642	0
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	576	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	643	0
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3	Advances in oto-rhino-laryngology	2000	499	0
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla	Biochemical and biophysical research communications	1999	647	0
Mutation analyses of North American APS-1 patients	Human mutation	1999	655	0
Linearization and purification of BAC DNA for the development of transgenic mice	Transgenic research	1999	529	0
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	663	0
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	614	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	711	0
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	573	0
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	616	0
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Human genetics	1998	613	0
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)	Genomics	1998	602	0
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	569	0
APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Immunology today	1998	542	0
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	555	0
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Genomics	1998	608	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	626	0
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Molecular endocrinology	1998	624	0
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	American journal of human genetics	1998	581	0
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3	Genomics	1998	591	0
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	569	0
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15	Human genetics	1997	545	0
Positional cloning of the APECED gene	Nature genetics	1997	700	1
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	590	0
TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis	The Journal of biological chemistry	1997	658	0
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Genomics	1997	638	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	664	0
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	525	0
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee	Genomics	1997	648	0
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	587	0
What is expanded in progressive myoclonus epilepsy?	Nature genetics	1997	573	0