Search Results - "Kibar, Z"

Toward understanding the genetic basis of neural tube defects by Kibar, Z, Capra, V, Gros, P

“…Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early…”
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Contribution of VANGL2 mutations to isolated neural tube defects by Kibar, Z, Salem, S, Bosoi, CM, Pauwels, E, De Marco, P, Merello, E, Bassuk, AG, Capra, V, Gros, P

“…Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Contribution of VANGL2 mutations to isolated neural tube defects…”
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Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype by D'Amours, G, Kibar, Z, Mathonnet, G, Fetni, R, Tihy, F, Désilets, V, Nizard, S, Michaud, JL, Lemyre, E

“…D’Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E. Whole‐genome array CGH identifies pathogenic copy number…”
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Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations by Merello, E., Mascelli, S., Raso, A., Piatelli, G., Consales, A., Cama, A., Kibar, Z., Capra, V., Marco, Patrizia De

“…Background Neural Tube Defects (NTD) are a common class of birth defects that occur in approximately 1 in 1000 live births. Both genetic and nongenetic factors…”
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Identification of a New Chemically Induced Allele (Lpm1Jus) at the Loop-Tail Locus: Morphology, Histology, and Genetic Mapping by Kibar, Z., Underhill, D.A., Canonne-Hergaux, F., Gauthier, S., Justice, M.J., Gros, P.

“…Loop-tail (Lp) is a semidominant mutation that affects neurulation in mice. Heterozygous animals are characterized by a looped-tail appearance (pig tail) and…”
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The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q by Kibar, Zoha, Der Kaloustian, Vazken M., Brais, Bernard, Hani, Valerie, Fraser, F. Clarke, Rouleau, Guy A.

“…Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is…”
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Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family by Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G.A., Waksman, G.

“…Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar…”
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Mutations in VANGL1 Associated with Neural-Tube Defects by Kibar, Zoha, Torban, Elena, McDearmid, Jonathan R, Reynolds, Annie, Berghout, Joanne, Mathieu, Melissa, Kirillova, Irena, De Marco, Patrizia, Merello, Elisa, Hayes, Julie M, Wallingford, John B, Drapeau, Pierre, Capra, Valeria, Gros, Philippe

“…Despite the frequency of neural-tube defects, little is known about their cause. In this study, the authors implicate the gene VANGL1 in three children with…”
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Ltap , a mammalian homolog of Drosophila Strabismus/Van Gogh , is altered in the mouse neural tube mutant Loop-tail by Vogan, Kyle J, Underhill, D. Alan, Kibar, Zoha, Groulx, Normand, Gros, Philippe, Justice, Monica J

“…Neural tube defects (NTDs) such as spina bifida and anencephaly are common congenital malformations in humans (1/1,000 births) that result from failure of the…”
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Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway by Allache, R., Lachance, S., Guyot, M. C., De Marco, P., Merello, E., Justice, M. J., Capra, V., Kibar, Z.

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Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3 by LAFRENIERE, R. G, ROCHEFORT, D. L, ROMMENS, J. M, ROULEAU, G. A, KIBAR, Z, FON, E. A, HAN, F.-Y, COCHIUS, J, KANG, X, BAIRD, S, KORNELUK, R. G, ANDERMANN, E

“…As part of efforts to identify candidate genes for disorders mapped to 21q22.3, we have constructed a 405-kb cosmid contig encompassing five tightly linked…”
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Isolation and Characterization of GT335, a Novel Human Gene Conserved inEscherichia coliand Mapping to 21q22.3 by Lafrenière, R.G., Rochefort, D.L., Kibar, Z., Fon, E.A., Han, F.-Y., Cochius, J., Kang, X., Baird, S., Korneluk, R.G., Andermann, E., Rommens, J.M., Rouleau, G.A.

“…As part of efforts to identify candidate genes for disorders mapped to 21q22.3, we have constructed a 405-kb cosmid contig encompassing five tightly linked…”
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Connexin46 Mutations in Autosomal Dominant Congenital Cataract by Mackay, Donna, Ionides, Alexander, Kibar, Zoha, Rouleau, Guy, Berry, Vanita, Moore, Anthony, Shiels, Alan, Bhattacharya, Shomi

“…Loci for autosomal dominant “zonular pulverulent” cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the…”
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Mutations in GJB6 cause hidrotic ectodermal dysplasia by Lamartine, J, Munhoz Essenfelder, G, Kibar, Z, Lanneluc, I, Callouet, E, Laoudj, D, Lemaître, G, Hand, C, Hayflick, S J, Zonana, J, Antonarakis, S, Radhakrishna, U, Kelsell, D P, Christianson, A L, Pitaval, A, Der Kaloustian, V, Fraser, C, Blanchet-Bardon, C, Rouleau, G A, Waksman, G

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Mutations in GJB6 cause hidrotic ectodermal dysplasia by Laoudj, Dalila, Christianson, Arnold L, Kelsell, David P, Callouet, Edwige, Hand, Colette, Pitaval, Amandine, Lamartine, Jérôme, Radhakrishna, Uppala, Rouleau, Guy A, Waksman, Gilles, Antonarakis, Stylianos, Kibar, Zoha, Munhoz Essenfelder, Guilherme, Zonana, Jonathan, Blanchet-Bardon, Claudine, Fraser, Clarke, Lanneluc, Isabelle, Lemaître, Gilles, Hayflick, Susan J, Der Kaloustian, Vazken

“…Landouzy-Dejerine muscular dystrophy is a rare hereditary disease with prevalence of 0.9 to 1.4 in 100,000. Clinically the disease is characterized by weakness…”
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Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene by Kibar, Zoha, Gauthier, Susan, Lee, Seung-Hwan, Vidal, Silvia, Gros, Philippe

“…The mouse mutant loop-tail ( Lp) is an accepted model for the study of neural tube defects (NTDs) in humans. Whereas Lp/+ heterozygotes show a mild tail defect…”
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Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family: REFINED LOCALIZATION OF THE GENE FOR CLOUSTON SYNDROME by Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G.A., Waksman, G.

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Refined localization of the gene for Clouston syndrome hidrotic ectodermal dsplasia) in a large French family by Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., G. A., Rouleau, Wksman, G.

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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping by Kibar, Z, Dubé, M P, Powell, J, McCuaïg, C, Hayflick, S J, Zonana, J, Hovnanian, A, Radhakrishna, U, Antonarakis, S E, Benohanian, A, Sheeran, A D, Stephan, M L, Gosselin, R, Kelsell, D P, Christianson, A L, Fraser, F C, Der Kaloustian, V M, Rouleau, G A

“…HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED…”
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A 1.5-Mb Physical Map of the Hidrotic Ectodermal Dysplasia (Clouston Syndrome) Gene Region on Human Chromosome 13q11 by Lamartine, Jérôme, Pitaval, Amandine, Soularue, Pascal, Lanneluc, Isabelle, Lemaı&̂tre, Gilles, Kibar, Zoha, Rouleau, Guy A., Waksman, Gilles

“…The HED (hidrotic ectodermal dysplasia) or Clouston syndrome gene (named ED2) has been mapped to the pericentromeric region of chromosome 13 (13q11) to a…”
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