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Your search keyword '"E, Shmueli"' showing total 2 results
Start Over Author "E, Shmueli" Journal american journal of human genetics
2 results on '"E, Shmueli"'

1. Negative expansion of the myotonic dystrophy unstable sequence

Author

D, Abeliovich, I, Lerer, I, Pashut-Lavon, E, Shmueli, A, Raas-Rothschild, and M, Frydman

Subjects
Adult, Male, Pregnancy, Mutation, Infant, Newborn, Humans, Mitosis, Myotonic Dystrophy, Female, Cells, Cultured, Pedigree, Repetitive Sequences, Nucleic Acid, Research Article
Abstract

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families with 72 affected individuals revealed four more cases of negative expansions, all of them in paternal transmissions. The possible significance of this finding is discussed.

Published
1993

2. Negative expansion of the myotonic dystrophy unstable sequence.

Author

Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, and Frydman M

Subjects
Adult, Cells, Cultured, Female, Humans, Infant, Newborn, Male, Mitosis genetics, Mutation, Myotonic Dystrophy diagnosis, Pedigree, Pregnancy, Repetitive Sequences, Nucleic Acid, Myotonic Dystrophy genetics
Abstract

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families with 72 affected individuals revealed four more cases of negative expansions, all of them in paternal transmissions. The possible significance of this finding is discussed.

Published
1993

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