GENETIC DISEASES WITH CYTOGENETIC AETIOLOGY: GENERATION OF A PANEL OF PARTIAL CHROMOSOME PAINTS AND YAC PROBES AS TOOLS FOR AN EFFECTIVE CYTOGENETIC COUNSELING
- 2 Years 1998/2000
- 103.291€ Total Award
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Scientific Publications
- 1999 CYTOGENETICS AND CELL GENETICS
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
- 2000 GENOMICS
Molecular cytogenetic resources for chromosome 4 and comparative analysis of phylogenetic chromosome IV in great apes
- 1999 JOURNAL OF BIOLOGICAL CHEMISTRY
Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain
- 1998 CYTOGENETICS AND CELL GENETICS
Assignment of the oxoglutarate carrier gene (SLC20A4) to human chromosome 17p13.3
- 1999 GENOME RESEARCH
Centromere repositioning
- 1999 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Mapping of the human voltage-dependent anion channel isoforms 1 and 2 reconsidered
- 2000 CYTOGENETICS AND CELL GENETICS
Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3
- 1999 GENOME RESEARCH
CAGGG repeats and the pericentromeric duplication of the hominoid genome
- 1999 GENOMICS
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22
- 1999 AMERICAN JOURNAL OF MEDICAL GENETICS
Molecular cytogenetic resources specific for chromosome 12
- 1999 MATRIX BIOLOGY
CDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse Cartilage Associated Protein
- 1999 GENOMICS
Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region
- 2004 NATURE
The structure and evolution of centromeric transition regions within the human genome
- 1999 HUMAN MOLECULAR GENETICS
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
- 1999 BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
The human gene coding for HCN2, a pacemaker channel of the heart
- 1998 CYTOGENETICS AND CELL GENETICS
Assignment of the human dicarboxylate carrier gene (DIC) to chromosome 17 band 17q25.3
- 2001 CYTOGENETICS AND CELL GENETICS
Assignment to chromosome 12q24.33, gene organization and splicing of the human KRAB/FPB containing zinc finger gene ZNF84
- 2000 JOURNAL OF BIOLOGICAL CHEMISTRY
ERO1-L, a human protein that favors disulfide bond formation in the endoplasmic reticulum
- 2000 HUMAN MOLECULAR GENETICS
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
- 2000 HUMAN MOLECULAR GENETICS
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q
- 2000 CYTOGENETICS AND CELL GENETICS
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12
- 1999 CYTOGENETICS AND CELL GENETICS
Assignment of the aquaporin-8 water channel gene (AQP8) to human chromosome 16p12
- 1999 CYTOGENETICS AND CELL GENETICS
Cloning, structural organization and chromosomal localization of the mouse Aquaporin-8 water channel gene (Aqp8)
- 1999 CYTOGENETICS AND CELL GENETICS
Assignment of human teratocarcinoma derived growth factor (TDGF) sequences to chromosomes 2q37, 3q22, 6p25 and 19q13.1
- 2000 HUMAN MOLECULAR GENETICS
Molecular structure and evolution of an alpha satellite non-alpha satellite junction at 16p11
- 1999 CYTOGENETICS AND CELL GENETICS
The human KRAB/FPB containing zinc finger gene ZNF2 maps to chromosome 2q11.2
