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Two human genes related to murine vanin-1 are located on the long arm of human chromosome 6Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymesCloning of the genes encoding two murine and human cochlear unconventional type I myosinsIdentification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distributionCloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brainCentrosome overduplication and mitotic instability in PKD2 transgenic linesDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesAbnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationGenomic organization and the tissue distribution of alternatively spliced isoforms of the mouse Spatial geneChromosomal localization of human RNA polymerase II subunit genesLocalization of the gene encoding peptidylglycine alpha-amidating monooxygenase (PAM) to human chromosome 5q14-5q21Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolutionCloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channelAssignment of vascular endothelial growth factor (VEGF) and placenta growth factor (PLGF) genes to human chromosome 6p12-p21 and 14q24-q31 regions, respectivelyThe human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpartHes1 is expressed in the second heart field and is required for outflow tract developmentGene structure, expression pattern, and biological activity of mouse killer cell activating receptor-associated protein (KARAP)/DAP-12Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.Definition of a T-cell receptor beta gene core enhancer of V(D)J recombination by transgenic mapping.A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.SRPX2 mutations in disorders of language cortex and cognition.Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertilityIsolation and regional mapping of cDNAs expressed during early human development.PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.A transformed human tracheal gland cell line, MM-39, that retains serous secretory functions.Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.Position-dependent variegation of a CD4 minigene with targeted expression to mature CD4+ T cells.TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.Intrachromosomal triplication for the distal part of chromosome 15q.Subcellular distribution of HP1 proteins is altered in ICF syndrome.Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.Clinical and molecular study of DiGeorge sequence.Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.[Long Y chromosome (Yq+) and phenotype abnormalities. Fluorescence study]
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
@es
Marie-Geneviève Mattéi
@nl
Marie-Geneviève Mattéi
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type
label
Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
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prefLabel
Marie-Geneviève Mattéi
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Marie-Geneviève Mattéi
@en
Marie-Geneviève Mattéi
@es
Marie-Geneviève Mattéi
@nl
Marie-Geneviève Mattéi
@sl
P106
P31
P496
0000-0002-6027-7058