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Results: 1-9 |
Results: 9
Unusual clinical presentation in two cases of multiple sulfatase deficiency
Authors: Blanco-Aguirre, ME Kofman-Alfaro, SH Rivera-Vega, MR Medina, C Valdes-Flores, M Rizzo, WB Cuevas-Covarrubias, SA
Citation: Me. Blanco-aguirre et al., Unusual clinical presentation in two cases of multiple sulfatase deficiency, PEDIAT DERM, 18(5), 2001, pp. 388-392
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis
Authors: Valdes-Flores, M Kofman-Alfaro, SH Jimenez-Vaca, AL Cuevas-Covarrubias, SA
Citation: M. Valdes-flores et al., Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis, AM J MED G, 102(2), 2001, pp. 146-148
Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency
Authors: Valdes-Flores, M Vaca, ALJ Rivera-Vega, MR Kofman-Alfaro, SH Cuevas-Covarrubias, SA
Citation: M. Valdes-flores et al., Maternal transmission of the 3 bp deletion within exon 7 of the STS gene in steroid sulfatase deficiency, J INVES DER, 117(4), 2001, pp. 997-999
Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis
Authors: Valdes-Flores, M Kofman-Alfaro, SH Vaca, ALJ Cuevas-Covarrubias, SA
Citation: M. Valdes-flores et al., Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis, J INVES DER, 116(3), 2001, pp. 456-458
Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis
Authors: Valdes-Flores, M Vaca, AJ Kofman-Alfaro, S Cuevas-Covarrubias, S
Citation: M. Valdes-flores et al., Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis, ACT DER-VEN, 81(1), 2001, pp. 54-55
A novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis
Authors: Valdes-Flores, M Kofman-Alfaro, SH Vaca, ALJ Cuevas-Covarrubias, SA
Citation: M. Valdes-flores et al., A novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis, J INVES DER, 114(3), 2000, pp. 591-593
Steroid sulfatase activity in leukocytes: A comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency
Authors: Miranda-Duarte, A Valdes-Flores, M Miranda-Zamora, R Diaz-Zagoya, JC Kofman-Alfaro, SH Cuevas-Covarrubias, SA
Citation: A. Miranda-duarte et al., Steroid sulfatase activity in leukocytes: A comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency, BIOC MOL B, 47(1), 1999, pp. 137-142
Ichthyosis vulgaris and X-linked ichthyosis: Simultaneous segregation in the same family
Authors: Cuevas-Covarrubias, SA Valdes-Flores, M Rivera-Vega, MR Diaz-Zagoya, JC Kofman-Alfaro, SH
Citation: Sa. Cuevas-covarrubias et al., Ichthyosis vulgaris and X-linked ichthyosis: Simultaneous segregation in the same family, ACT DER-VEN, 79(6), 1999, pp. 494-495
Most "sporadic" cases of X-linked ichthyosis are not de novo mutations
Authors: Cuevas-Covarrubias, SA Valdes-Flores, M Orozco, EO Diaz-Zagoya, JC Kofman-Alfaro, SH
Citation: Sa. Cuevas-covarrubias et al., Most "sporadic" cases of X-linked ichthyosis are not de novo mutations, ACT DER-VEN, 79(2), 1999, pp. 143-144
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