Výsledky vyhledávání - "Esther P. Leeflang"

Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

Autor: Lihadh Al-Gazali, Christopher G. Woods, Sarah E. Marsh, Aithala Gururaj, László Sztriha, Esther P. Leeflang, Lesley C. Keeler, Joseph G. Gleeson

Publikováno v: The American Journal of Human Genetics. 73:656-662

Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that include

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d583a9e042b3086378582049e8f7b230
https://doi.org/10.1086/378206

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French Machado-Joseph Disease Patients Do Not Exhibit Gametic Segregation Distortion: A Sperm Typing Analysis

Autor: Esther P. Leeflang, Marie-Odile Alnot, Raji P. Grewal, David Draghinas, Alexandra Durr, Xiang Yao, Mary Sara McPeek, Giovanni Stevanin, Norman Arnheim, Géraldine Cancel, Alexis Brice

Publikováno v: Human Molecular Genetics. 8:1779-1784

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 of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease allele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57e59156c0be6f56c47ca7907bebbbe
https://doi.org/10.1093/hmg/8.9.1779

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Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic [correction of amitotic] mutation mechanism [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717]

Autor: Esther P. Leeflang, Jayalakshmi Srinidhi, Margot de Young, Simon Tavaré, Norman Arnheim, Marcy E. MacDonald, Paul Marjoram, Heather MacFarlane, Nancy S. Wexler, James F. Gusella, Carolyn O. S. Neal

Publikováno v: Human Molecular Genetics. 8:173-183

Trinucleotide repeat disease alleles can undergo ‘dynamic’ mutations in which repeat number may change when a gene is transmitted from parent to offspring. By typing >3500 sperm, we determined the size distribution of Huntington’s disease (HD)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41b1412b50e83614e41aa83069d58829
https://doi.org/10.1093/hmg/8.2.173

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The mutation properties of spinal and bulbar muscular atrophy disease alleles

Autor: Norman Arnheim, Lin Zhang, Raji P. Grewal, Esther P. Leeflang

Publikováno v: ResearcherID

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 insight into genetic anticipation. This analysis was performed using single sperm typing from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4308f3b7c72525cdbd3b20a78f1ed5f3
https://doi.org/10.1007/s100480050036

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Dispersion and Insertion Polymorphism in Two Small Subfamilies of Recently Amplified HumanAluRepeats

Autor: Mark A. Batzer, Esther P. Leeflang, Hernan A. Bazan, Carol M. Rubin, Carl W. Schmid, Michelle Alegria-Hartman, Joshua D. Stern, Prescott L. Deininger, Utha Hellmann-Blumberg, Tamim H. Shaikh

Publikováno v: Journal of Molecular Biology. 247:418-427

Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9d27802df1c0c5b4b33782e13279de
https://doi.org/10.1006/jmbi.1994.0150

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Single‐Sperm Typing

Autor: K. Schmitt, Joanna Szyda, Sigbjørn Lien, Norman Arnheim, Esther P. Leeflang, Lin Zhang, Rene S. Hubert

Publikováno v: Current Protocols in Human Genetics

This unit presents protocols for sperm isolation using two different methods, amplification of simple sequence-length polymorphisms (SSLP) and/or single nucleotide polymorphisms (SNP) from single cells or whole genome-amplified single cells using pri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18642ada5e498d3d9e9058fd9242b79
https://doi.org/10.1002/0471142905.hg0106s32

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Unusual sequences of two old, inactive human Alu repeats

Autor: Esther P. Leeflang, Carl W. Schmid, Wen-Man Liu

Publikováno v: Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1132:306-308

Two human Alu repeats terminating in an oligo(T) run rather than the usual A-rich 3′ tail were isolated by library screening. Base sequence comparisons reveal that these unusual Alus are also exceptionally divergent from other Alu family members im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0530f53cdfea42e87841f5bb95a970
https://doi.org/10.1016/0167-4781(92)90165-v

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Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing

Autor: Anne Girardet, Franck Pellestor, Esther P. Leeflang, Norman Arnheim, Francis L. Munier, Mireille Claustres, Mary Sara McPeek

Summary In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive. To investigate this mechanism, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac08d5feb153bfef7647a3f99ac8e7d
https://europepmc.org/articles/PMC1288323/

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Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing

Autor: Mireille Claustres, Francis L. Munier, Franck Pellestor, Esther P. Leeflang, Norman Arnheim, Sigbjørn Lien, Anne Girardet, L. Beaufrere, Sylvie Tuffery

Publikováno v: European journal of human genetics : EJHG. 7(2)

In this study, single sperm typing has been used for high-resolution recombination analysis between the retinoblastoma gene and two closely linked extragenic microsatellites (D13S284 and D13S1307). The analysis of 1198 single sperm from three donors

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c8944630722e9c045d68ebf47ee3e8
https://pubmed.ncbi.nlm.nih.gov/10196709

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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

Autor: Norman Arnheim, Marcy E. MacDonald, Margot de Young, Nancy S. Wexler, Lin Zhang, Richard H. Myers, Simon Tavaré, Esther P. Leeflang, Rene S. Hubert, Jayalakshmi Srinidhi, James F. Gusella

Publikováno v: Human molecular genetics. 4(9)

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 alleles (15-18 repeats) showed only three contraction mutations among 475 sperm (0.6%). A 30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ec6c4449f63a28415cb35fa937d34c
https://pubmed.ncbi.nlm.nih.gov/8541834

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