25
results
for author:"Heilig R."
in Literature Citations
| Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Lefevre C., Audebert S., Jobard F., Bouadjar B., Lakhdar H., Boughdene-Stambouli O., Blanchet-Bardon C., Heilig R., Foglio M., Weissenbach J. et al. Hum. Mol. Genet. 12:2369-2378(2003) · UniProtKB (1) · Mapped (1) |
| An integrated analysis of the genome of the hyperthermophilic archaeon Pyrococcus abyssi. Cohen G.N., Barbe V., Flament D., Galperin M., Heilig R., Lecompte O., Poch O., Prieur D., Querellou J., Ripp R. et al. Mol. Microbiol. 47:1495-1512(2003) · UniProtKB (1,786) |
| The DNA sequence and analysis of human chromosome 14. Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A. et al. Nature 421:601-607(2003) · UniProtKB (543) |
| Assignment of FUT8 to chicken chromosome band 5q1.4 and to human chromosome 14q23.2-->q24.1 by in situ hybridization. Conserved and compared synteny between human and chicken. Coullin P., Crooijmans R.P., Groenen M.A., Heilig R., Mollicone R., Oriol R., Candelier J.J. Cytogenet. Genome Res. 97:234-238(2002) · UniProtKB (1) |
| Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.-L., Weissenbach J. et al. Am. J. Hum. Genet. 69:1002-1012(2001) · UniProtKB (1) |
| A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia. Bernard O.A., Busson-LeConiat M., Ballerini P., Mauchauffe M., Della Valle V., Monni R., Nguyen Khac F., Mercher T., Penard-Lacronique V., Pasturaud P. et al. Leukemia 15:1495-1504(2001) · Mapped (6) |
| The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis. Chambaud I., Heilig R., Ferris S., Barbe V., Samson D., Galisson F., Moszer I., Dybvig K., Wroblewski H., Viari A. et al. Nucleic Acids Res. 29:2145-2153(2001) · UniProtKB (778) |
| Mutations in the gene encoding SLURP-1 in Mal de Meleda. Fischer J., Bouadjar B., Heilig R., Huber M., Lefevre C., Jobard F., Macari F., Bakija-Konsuo A., Ait-Belkacem F., Weissenbach J. et al. Hum. Mol. Genet. 10:875-880(2001) · UniProtKB (1) |
| Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., Davoine C.-S., Cruaud C., Durr A., Wincker P. et al. Nat. Genet. 23:296-303(1999) · UniProtKB (2) |
| A transcriptional map of the FMF region. Bernot A., Heilig R., Clepet C., Smaoui N., Da Silva C., Petit J.-L., Devaud C., Chiannilkulchai N., Fizames C., Samson D. et al. Genomics 50:147-160(1998) · UniProtKB (3) |
| A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Saunier S., Calado J., Heilig R., Silbermann F., Benessy F., Morin G., Konrad M., Broyer M., Gubler M.-C., Weissenbach J. et al. Hum. Mol. Genet. 6:2317-2323(1997) · UniProtKB (1) |
| Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Levi-Acobas F., Cruaud C., le Merrer M., Mathieu M. et al. Hum. Mol. Genet. 6:2247-2255(1997) · UniProtKB (1) |
| A candidate gene for familial Mediterranean fever. Bernot A., Clepet C., Dasilva C., Devaud C., Petit J.-L., Caloustian C., Cruaud C., Samson D., Pulcini F., Weissenbach J. et al. Nat. Genet. 17:25-31(1997) · UniProtKB (3) |
| A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., Weil D., Cruaud C., Sahly I., Leibovici M. et al. |
| Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Campion D., Flaman J.-M., Brice A., Hannequin D., Dubois B., Martin C., Moreau V., Charbonnier F., Didierjean O., Tardieu S. et al. Hum. Mol. Genet. 4:2373-2377(1995) · UniProtKB (1) |
| The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease. Campion D., Martin C., Heilig R., Charbonnier F., Moreau V., Flaman J.-M., Petit J.-L., Hannequin D., Brice A., Frebourg T. Genomics 26:254-257(1995) · UniProtKB (1) |
| The ovalbumin gene family: structure of the X gene and evolution of duplicated split genes. Heilig R., Perrin F., Gannon F., Mandel J.-L., Chambon P. Cell 20:625-637(1980) · UniProtKB (1) |
| The ovalbumin gene family: complete sequence and structure of the Y gene. Heilig R., Muraskowsky R., Kloepfer C., Mandel J.-L. Nucleic Acids Res. 10:4363-4382(1982) · UniProtKB (1) |
| Isolation and characterization of cDNA clones for human skeletal muscle alpha actin. Hanauer A., Levin M., Heilig R., Daegelen D., Kahn A., Mandel J.-L. Nucleic Acids Res. 11:3503-3516(1983) · UniProtKB (1) |
| Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Heilig R., Lemaire C., Mandel J.L., Dandolo L., Amar L., Avner P. Nature 328:168-170(1987) · Mapped (26) |
| Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences. Mandel J.L., Arveiler B., Camerino G., Hanauer A., Heilig R., Koenig M., Oberle I. Cold Spring Harb. Symp. Quant. Biol. 51:195-203(1986) · UniProtKB (1) · Mapped (10) |
| The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken. Lemaire C., Heilig R., Mandel J.L. EMBO J. 7:4157-4162(1988) · UniProtKB (1) |
| Nucleotide sequence of chicken dystrophin cDNA. Lemaire C., Heilig R., Mandel J.-L. Nucleic Acids Res. 16:11815-11815(1988) · UniProtKB (1) |
| A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Heilig R., Lemaire C., Mandel J.L. Nucleic Acids Res. 15:9129-9142(1987) · UniProtKB (1) |
| Nucleotide sequence of the mouse preprosomatostatin gene. Fuhrmann G., Heilig R., Kempf J., Ebel A. Nucleic Acids Res. 18:1287-1287(1990) · UniProtKB (1) · Mapped (1) |
