Change in prevalence of congenital defects in children with Prader-Willi syndrome von Torrado, M, Foncuberta, M E, Perez, M F de Castro, Gravina, L P, Araoz, H V, Baialardo, E, Chertkoff, L P

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G.P.145 von Monges, S, Lubieniecki, F, de Castro, F, Lafuente, V, Gonzalez, M, Reyes, G, Chertkoff, L, Quijano-Roy, S, Romero, N.B, Richard, P, Bonne, G, Guicheney, P, Sacolitti, M, Taratuto, A.L

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13 Mannose binding lectin gene as a modifier of cystic fibrosis phenotype in Argentinian pediatric patients von Crespo, C, Giugno, H, Gravina, L.P, Mangano, A, Chertkoff, L, Castaños, C

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WS21.04 Molecular characterisation of the CFTR gene in the Argentinian population: impact of local variants in the sensitivity of genetic testing von Crespo, C., Giugno, H., Gomez, A.I., Aschettino, G., Piergrossi, N., Juanes, M., Chertkoff, L., Castaños, C., Gravina, L.P.

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DUCHENNE MUSCULAR DYSTROPHY - GENETICS von Foncuberta, M., Lubieniecki, F., Gravina, L., González Quereda, L., Gallano, P., Chertkoff, L., Monges, S.

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DUCHENNE MUSCULAR DYSTROPHY - GENETICS: P.212Mutational spectrum of the DMD gene in pediatric patients from an Argentinian referral center von Foncuberta, M., Lubieniecki, F., Gravina, L., González Quereda, L., Gallano, P., Chertkoff, L., Monges, S.

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MITOCHONDRIAL DISEASES (Posters): P.192Severe isolated mitochondrial myopathy in childhood von Loos, M., Aráoz, H., Lubieniecki, F., Taratuto, A., Caraballo, R., Chertkoff, L., Monges, S.

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MITOCHONDRIAL DISEASES (Posters) von Loos, M., Aráoz, H., Lubieniecki, F., Taratuto, A., Caraballo, R., Chertkoff, L., Monges, S.

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P010 In the era of CFTR modulators, does newborn screening detect cystic fibrosis patients with residual function mutations? von Crespo, C., Giugno, H., Dratler, G., Chertkoff, L., Castaños, C., Gravina, L.P.

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EP.63Clinical, pathological, and molecular findings in Argentine patients with nonsense mutations in the DMD gene von Foncuberta, M., Lubieniecki, F., Gallo, A., Crespo, A., Mozzoni, J., de Castro, F., Aguerre, V., Araoz, V., Chertkoff, L., Gravina, P., Monges, S.

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES von Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.84Clinical discordance in spinal muscular atrophy siblings: the exception or the rule? von Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.

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A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population von Aráoz, H V, Torrado, M, Barreiro, C, Chertkoff, L

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G.P.145: LMNA-related muscular dystrophies: Clinical and histopathological spectrum in Argentina von Monges, S., Lubieniecki, F., de Castro, F., Lafuente, V., Gonzalez, M., Reyes, G., Chertkoff, L., Quijano-Roy, S., Romero, N.B., Richard, P., Bonne, G., Guicheney, P., Sacolitti, M., Taratuto, A.L.

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Complete nucleotide sequence of a genomic clone encoding HLA-B35 isolated from a Caucasian individual of hispanic origin identification of a new variant of HLA-B35 von Chertkoff, Lilien P., Herrera, Mariana, Fainboim, Leonardo, Leonardo Satz, M.

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Diagnosis Value of a Pediatric Clinical Score for the Diagnosis of the Fragile X Syndrome von Torrado, M, Herrera, J, Chertkoff, L, Tenembaum, S, Bin, L, Barreiro, C

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DNA polymorphism of the HLA-B35 gene associated to different HLA-C locus alleles von Chertkoff, Lilien P., Herrera, Mariana, Mota, Alicia H., Palavecino, Ethel, Fainboim, Leonardo, Satz, M.Leonardo

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High specificity of head circumference to recognize N540K mutation in hypochondroplasia von Fano, Virginia, Gravina, Luis Pablo, Pino, Mariana Del, Chertkoff, Lilien, Barreiro, Cristina, Lejarraga, Horacio

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Complete screening of the CFTR gene in Argentine cystic fibrosis patients von Visich, A, Zielenski, J, Castaños, C, Diez, G, Grenoville, M, Segal, E, Barreiro, C, Tsui, L-C, Chertkoff, L

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Angelman syndrome: the electroclinical characteristics in 35 patients von Cersósimo, R, Caraballo, R, Espeche, A, Cassar, L, Torrado, M V, Chertkoff, L, Baialardo, E, Arroyo, H A, Fejerman, N

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