Rossier, Colette | Archive ouverte UNIGE

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Title	Published in	Year	Views	Downloads

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening	PLOS genetics	2009	728	609
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	490	0
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations	Human mutation	2008	751	0
DNAI1 mutations explain only 2% of primary ciliary dykinesia	Respiration	2008	843	510
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome	Digestive diseases and sciences	2007	638	583
GENCODE: producing a reference annotation for ENCODE	GenomeBiology.com	2006	719	664
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Science	2003	657	0
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia	Proceedings of the National Academy of Sciences of the United States of America	2002	681	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	672	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	751	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	666	0
Physicochemical mechanisms of trace metal bioaccumulation by microorganisms	Chimia	2002	648	0
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Journal of molecular medicine	2002	689	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	669	1
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family	Human genetics	2001	623	408
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	646	0
Frequency of replication/transcription errors in (A)/(T) runs of human genes	Human genetics	2001	571	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	664	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	657	0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Genomics	2001	654	1
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)	Cytogenetics and cell genetics	2000	689	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	564	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	628	0
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Blood	2000	602	1
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	547	1
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	585	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	653	0
Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia	Experimental neurology	2000	603	1
Mutation analyses of North American APS-1 patients	Human mutation	1999	664	0
No Detected Mutations in the Genes for the Amyloid Precursor Protein and Presenilins 1 and 2 in a Swiss Early-Onset Alzheimer's Disease Family with a Dominant Mode of Inheritance	Dementia and geriatric cognitive disorders	1999	605	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	672	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	623	0
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency	Blood	1999	592	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	721	0
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	626	0
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)	Genomics	1998	611	0
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Genomics	1998	618	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	636	0
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Molecular endocrinology	1998	633	0
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	American journal of human genetics	1998	590	0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Human genetics	1998	560	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	579	0
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)	American journal of human genetics	1997	620	0
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	600	0
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Genomics	1997	647	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	674	0
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3	Genomics	1997	632	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	596	0
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3	Genomics	1997	668	0
The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3	Genomics	1996	647	0
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping	Genome research	1996	600	0
Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2	Genomics	1996	525	0
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3	American journal of human genetics	1996	507	0
Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21	Genomics	1996	557	0
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3	Genomics	1996	575	0
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2	Genomics	1995	555	0
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome	Human molecular genetics	1995	628	0
Single-minded and Down syndrome?	Nature genetics	1995	585	1