Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.

Por Greenberg, D A, Kaback, M M
Publicado em 1982

The American Society of Human Genetics statement on cystic fibrosis screening.

Por Caskey, C T, Kaback, M M, Beaudet, A L
Publicado em 1990

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

Por Leisti, J T, Kaback, M M, Rimoin, D L
Publicado em 1975

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of bet...

Por Paw, B H, Kaback, M M, Neufeld, E F
Publicado em 1989

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish...

Por Cantor, R M, Roy, C, Lim, J S, Kaback, M M
Publicado em 1987

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Por Cantor, R M, Lim, J S, Roy, C, Kaback, M M
Publicado em 1985

Tay-Sachs screening: social and psychological impact.

Por Childs, B, Gordis, L, Kaback, M M, Kazazian, H H
Publicado em 1976

Tay-Sachs screening: motives for participating and knowledge of genetics and probability.

Por Childs, B, Gordis, L, Kaback, M M, Kazazian, H H
Publicado em 1976

Segregation of an insertional chromosome rearrangement in 3 generations.

Por Toomey, K E, Mohandas, T, Sparkes, R S, Kaback, M M, Rimoin, D L
Publicado em 1978

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

Por Paw, B H, Tieu, P T, Kaback, M M, Lim, J, Neufeld, E F
Publicado em 1990

Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion.

Por Blumberg, B D, Shulkin, J D, Rotter, J I, Mohandas, T, Kaback, M M
Publicado em 1982

Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.

Por Farrell, D F, Percy, A K, Kaback, M M, McKhann, G M
Publicado em 1973

Tay-Sachs disease: high gene frequency in a non-Jewish population.

Por Kelly, T E, Chase, G A, Kaback, M M, Kumor, K, McKusick, V A
Publicado em 1975

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Por Akerman, B R, Natowicz, M R, Kaback, M M, Loyer, M, Campeau, E, Gravel, R A
Publicado em 1997

Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.

Por Stevens, R L, Fluharty, A L, Kihara, H, Kaback, M M, Shapiro, L J, Marsh, B, Sandhoff, K, Fischer, G
Publicado em 1981

A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Por Cao, Z, Natowicz, M R, Kaback, M M, Lim-Steele, J S, Prence, E M, Brown, D, Chabot, T, Triggs-Raine, B L
Publicado em 1993

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

Por Landels, E C, Green, P M, Ellis, I H, Fensom, A H, Kaback, M M, Lim-Steele, J, Zeiger, K, Levy, N, Bobrow, M
Publicado em 1993

The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.

Por Petersen, G M, Rotter, J I, Cantor, R M, Field, L L, Greenwald, S, Lim, J S, Roy, C, Schoenfeld, V, Lowden, J A, Kaback, M M
Publicado em 1983

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

Por Triggs-Raine, B. L., Mules, E. H., Kaback, M. M., Lim-Steele, J. S. T., Dowling, C. E., Akerman, B. R., Natowicz, M. R., Grebner, E. E., Navon, R., Welch, J. P., Greenberg, C. R., Thomas, G. H., Gravel, R. A.
Publicado em 1992