Search Results - "Leeflang, E P"

Analysis of Germline Mutation Spectra at the Huntington's Disease Locus Supports a Mitotic Mutation Mechanism by Leeflang, Esther P., Tavaré, Simon, Marjoram, Paul, Neal, Carolyn O. S., Srinidhi, Jayalakshmi, MacFarlane, Heather, MacDonald, Marcy E., Gusella, James F., de Young, Margot, Wexler, Nancy S., Arnheim, Norman

“…Trinucleotide repeat disease alleles can undergo ‘dynamic’ mutations in which repeat number may change when a gene is transmitted from parent to offspring. By…”
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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum by Leeflang, E P, Zhang, L, Tavaré, S, Hubert, R, Srinidhi, J, MacDonald, M E, Myers, R H, de Young, M, Wexler, N S, Gusella, J F

“…The CAG triplet repeat region of the Huntington's disease gene was amplified in 923 single sperm from three affected and two normal individuals. Average-size…”
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Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene by Zhang, Lin, Leeflang, Esther P, Yu, Jian, Arnheim, Norman

“…Trinucleotide repeat mutations of normal alleles at the human androgen receptor locus were studied by typing approximately 4,300 sperm. Control experiments…”
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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes by Leeflang, E P, Marsh, S E, Parrini, E, Moro, F, Pilz, D, Dobyns, W B, Guerrini, R, Wheless, J W, Gleeson, J G

“…[...]we could not exclude a small (<2 kbp) rearrangement of the der 6 chromosome. [...]female imprinting is a possible explanation…”
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The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing by Kunst, C B, Leeflang, E P, Iber, J C, Arnheim, N, Warren, S T

“…Fragile X syndrome results from the unstable expansion of a CGG repeat within the FMR1 gene. Three classes of FMR1 alleles have been identified, normal alleles…”
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Analysis of meiotic segregation, using single-sperm typing : Meiotic drive at the myotonic dystrophy locus by LEEFLANG, E. P, MCPEEK, M. S, ARNHEIM, N

“…Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of…”
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French Machado-Joseph Disease Patients Do Not Exhibit Gametic Segregation Distortion: A Sperm Typing Analysis by Grewal, Raji P., Cancel, Geraldine, Leeflang, Esther P., Dürr, Alexandra, McPeek, Mary Sara, Draghinas, David, Yao, Xiang, Stevanin, Giovanni, Alnot, Marie-Odile, Brice, Alexis, Arnheim, Norman

“…Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients…”
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A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability by Leeflang, E P, Arnheim, N

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Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing by Girardet, Anne, McPeek, Mary Sara, Leeflang, Esther P., Munier, Francis, Arnheim, Norman, Claustres, Mireille, Pellestor, Franck

“…In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to…”
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The mutation properties of spinal and bulbar muscular atrophy disease alleles by Grewal, R P, Leeflang, E P, Zhang, L, Arnheim, N

“…We studied the gene for the trinucleotide repeat disorder X-linked spinal and bulbar muscular atrophy (SBMA) to quantify the spectrum of mutations and gain…”
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Paucity of novel short interspersed repetitive element (SINE) families in human DNA and isolation of a novel MER repeat by Rubin, C M, Leeflang, E P, Rinehart, F P, Schmid, C W

“…An extensive compilation of renaturation rate data for human DNA is presented as an empirical guide for genomic hybridization studies and to document as…”
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Mobility of short interspersed repeats within the chimpanzee lineage by LEEFLANG, E. P, CHESNOKOV, I. N, SCHMID, C. W

“…The PV subfamily of Alu repeats in human DNA is largely composed of recently inserted members. Here we document additional members of the PV subfamily that are…”
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Phylogenetic evidence for multiple Alu source genes by Leeflang, E P, Liu, W M, Hashimoto, C, Choudary, P V, Schmid, C W

“…A member of the young PV Alu subfamily is detected in chimpanzee DNA showing that the PV subfamily is not specific to human DNA. This particular Alu is absent…”
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Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing by Girardet, A, Lien, S, Leeflang, E P, Beaufrère, L, Tuffery, S, Munier, F, Arnheim, N, Claustres, M, Pellestor, F

“…In this study, single sperm typing has been used for high-resolution recombination analysis between the retinoblastoma gene and two closely linked extragenic…”
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Phylogenetic isolation of a human Alu flounder gene : drift to new subfamily identity by LEEFLANG, E. P, WEN-MAN LIU, CHESNOKOV, I. N, SCHMID, C. W

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Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3 by Keeler, Lesley C., Marsh, Sarah E., Leeflang, Esther P., Woods, Christopher G., Sztriha, László, Al-Gazali, Lihadh, Gururaj, Aithala, Gleeson, Joseph G.

“…Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia,…”
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Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats by Batzer, M A, Rubin, C M, Hellmann-Blumberg, U, Alegria-Hartman, M, Leeflang, E P, Stern, J D, Bazan, H A, Shaikh, T H, Deininger, P L, Schmid, C W

“…Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes…”
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Erratum: Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene

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Phylogenetic isolation of a human Alu founder gene: drift to new subfamily identity [corrected] by Leeflang, E P, Liu, W M, Chesnokov, I N, Schmid, C W

“…A severe bottleneck in the size of the PV Alu subfamily in the common ancestor of human and gorilla has been used to isolate an Alu source gene. The human PV…”
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Phylogenetic evidence for multiple alu sources genes by LEEFLANG, E. P, WEN-MAN LIU, HASHIMOTO, C, CHOUDARY, P. V, SCHMID, C. W

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