Search Results - "Heuertz, S."

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation by Gonzales, M, Heuertz, S, Martinovic, J, Delahaye, S, Bazin, A, Loget, P, Pasquier, L, Le Merrer, M, Bonaventure, J

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda by Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

“…The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused…”
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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation by Rio, M, Molinari, F, Heuertz, S, Ozilou, C, Gosset, P, Raoul, O, Cormier-Daire, V, Amiel, J, Lyonnet, S, Le Merrer, M, Turleau, C, de Blois, M-C, Prieur, M, Romana, S, Vekemans, M, Munnich, A, Colleaux, L

“…Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation…”
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Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes by KRAHN, M, JULIA, S, LEVY, N, PHILIP, N, SIGAUDY, S, LIPRANDI, A, BERNARD, R, GONNET, K, HEUERTZ, S, BONAVENTURE, J, CHAU, C, FREDOUILLE, C

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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28 by Smahi, A, Hyden-Granskog, C, Peterlin, B, Vabres, P, Heuertz, S, Fulchignoni-Lataud, M C, Dahl, N, Labrune, P, Le Marec, B, Piussan, C

“…Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is…”
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The gene for incontinentia pigmenti is assigned to Xq28 by Sefiani, A, Abel, L, Heuertz, S, Sinnett, D, Lavergne, L, Labuda, D, Hors-Cayla, M C

“…A linkage study of eight families with incontinentia pigmenti (IP) has been performed, and linkage to site DXS52 has been established. We suggest that the IP…”
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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti

“…Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in…”
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Mutation analysis of the DKC1 gene in incontinentia pigmenti by HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D’URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, KENWRICK, SUSAN

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Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome by LAJEUNIE, Elisabeth, HEUERTZ, Solange, EL GHOUZZI, Vincent, MARTINOVIC, Jelena, RENIER, Dominique, LE MERRER, Martine, BONAVENTURE, Jacky

“…Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by…”
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Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel by Heuertz, S, Smahi, A, Sanak, M, Holvoet-Vermaut, L, Hors-Cayla, M C

“…Radiation-induced somatic cell hybrids containing fragments of the human X chromosome were constructed. A panel of 17 hybrids was selected with the help of…”
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The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92 by Heuertz, S, Nelen, M, Wilkie, A O, Le Merrer, M, Delrieu, O, Larget-Piet, L, Tranebjaerg, L, Bick, D, Hamel, B, Van Oost, B A

“…Previous linkage studies in X-linked spondyloepiphyseal dysplasia (SEDL) placed the gene in the region Xp22.2-p22.1 by linkage to DXS41. Here we have extended…”
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Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers by Sefiani, A, M'rad, R, Simard, L, Vincent, A, Julier, C, Holvoet-Vermaut, L, Heuertz, S, Dahl, N, Stalder, J F, Peter, M O

“…Linkage data for familial incontinentia pigmenti (IP2) and nine X chromosomal markers are reported. Previously found linkage between IP2 and the DXS52 locus is…”
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Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome by SZPIRO-TAPIA, S, SEFIANI, A, GUILLOUD-BATAILLE, M, HEUERTZ, S, LE MAREC, B, FREZAL, J, MAROTEAUX, P, HORS-CAYLA, M. C

“…A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 (theta = 0.08; z = 3.07) and DXS92…”
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Linkage studies in X-linked Alport's syndrome by SZPIRO-TAPIA, S, BOBRIE, G, GUILLOUD-BATAILLE, M, HEUERTZ, S, JULIER, C, FREZAL, J, GRÜNFELD, J. P, HORS-CAYLA, M. C

“…Four kindreds segregating for Alport's syndrome (ASLN) compatible with a X-linked inheritance were studied for linkage with polymorphic markers of the human X…”
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Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias by Benoist-Lasselin, Catherine, Gibbs, Linda, Heuertz, Solange, Odent, Thierry, Munnich, Arnold, Legeai-Mallet, Laurence

“…Achondroplasia and thanatophoric dysplasia are human chondrodysplasias caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We have…”
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Time dependence of X gene reactivation induced by 5-azacytidine: possible progressive restructuring of chromatin by Homman, N, Heuertz, S, Hors-Cayla, M C

“…According to the theoretical mechanism of DNA demethylation by 5-azacytidine, the complete demethylation of one site will require two cell divisions. If…”
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Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11 by SEFIANI, A, SINNETT, D, GILGENKRANTZ, S, MITCHELL, G, FREZAL, J, MELANCON, S, LAVERGNE, L, LABUDA, D, HORS-CAYLA, M. C, SZPIRO-TAPIA, S, HEUERTZ, S, CRAIG, I, FRASER, N, KRUSE, T. A, FRYDMAN, M, PETER, M. O, SCHMUTZ, J. L

“…Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used,…”
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Cattle gene mapping by somatic cell hybridization study of 17 enzyme markers by Heuertz, S, Hors-Cayla, M C

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Different bovine leukemia virus-induced tumors harbor the provirus in different chromosomes by Grégoire, D, Couez, D, Deschamps, J, Heuertz, S, Hors-Cayla, M C, Szpirer, J, Szpirer, C, Burny, A, Huez, G, Kettmann, R

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization by Hors-Cayla, M C, Junien, C, Heuertz, S, Mattei, J F, Frézal, J

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