Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Ruth A. Heim"'
Autor:
Elissa Murphy, Ruth A. Heim, Adrian M. Dubuc, Heather Mason-Suares, Kelsey J. McIntyre, Lauren Mertens
Publikováno v:
The Journal of Molecular Diagnostics. 22:1189-1198
Genetic analysis is a critical component in the male infertility workup. For male infertility due to oligospermia/azoospermia, standard guidelines recommend karyotype and Y-chromosome microdeletion analyses. A karyotype is used to identify structural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1cde92d807743bfe5bd5ade096ca768
https://doi.org/10.1016/j.jmoldx.2020.06.009
https://doi.org/10.1016/j.jmoldx.2020.06.009
Autor:
Lynne S Rosenblum, Stanley Letovsky, Patricia M. Okamoto, Ruth A Heim, Qiandong Zeng, Natalia T Leach, Jean A Smith, Zhaoqing Zhou, Angela Kenyon, Hui Zhu, Marcia Eisenberg
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants, especially in repetitive or h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e3c7d4ad05005f4a092711c51f8354
http://europepmc.org/articles/PMC7490669
http://europepmc.org/articles/PMC7490669
Publikováno v:
Journal of genetic counselingREFERENCES. 29(1)
The intent of carrier screening is to identify individuals at risk for having a child with a genetic disorder. American College of Medical Genetics and Genomics (ACMG) guidelines currently recommend that individuals of Ashkenazi Jewish (AJ) descent b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c39e1d10ab7b9faed3f4de2d284563
https://pubmed.ncbi.nlm.nih.gov/31663226
https://pubmed.ncbi.nlm.nih.gov/31663226
Autor:
Jessica J. Park, Ruth A. Heim, Nicole Schreiber-Agus, Steven Keiles, Alice K. Tanner, Jodi D. Hoffman, Ruth Kornreich, Kenneth J. Friedman
Publikováno v:
Prenatal Diagnosis. 34:1161-1167
Objective Although prenatal/preconception carrier screening recommendations for individuals of Ashkenazi Jewish descent (AJ) were published by American College of Medical Genetics and Genomics (2008) and American College of Obstetrics and Gynecology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1347d949dd596edae9cfb870b5b684e4
https://doi.org/10.1002/pd.4446
https://doi.org/10.1002/pd.4446
Publikováno v:
Genetics in Medicine. 21:1670
The original version of this Article contained an error in the spelling of the author N. T. Leach, which was incorrectly given as N. L. Leach. This has been corrected in both the PDF and HTML versions of the Article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a20e4958cd393df992e489b8b232c48
https://doi.org/10.1038/s41436-018-0128-z
https://doi.org/10.1038/s41436-018-0128-z
Autor:
Ruth A. Heim, Lodercio Culpi, Nelson Rosario, Lairton Valentim, Bernice Allito, John A. Phillips, Norberto Ludwig, Salmo Raskin, Elaine A Sugarman, Fabio R. Faucz, Francisco J.C. Reis, Christian M. Probst, Lilian Pereira
Publikováno v:
Genetic Testing. 7:213-218
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To determine the frequency of 70 common worldwide CFTR mutations in 155 Euro-B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd99440487947ea29102c0bd23d902a
https://doi.org/10.1089/109065703322537223
https://doi.org/10.1089/109065703322537223
Autor:
Ruth A. Heim, Bernice A Allitto, Lawrence M. Silverman, Elizabeth M. Rohlfs, Elaine A Sugarman, Michael R. Knowles, Rhonda G. Pace, Zhaoqing Zhou
Publikováno v:
Genetics in Medicine. 4:319-323
Purpose: To determine whether CFTR intragenic changes modulate the cystic fibrosis (CF) phenotype in individuals who are positive for the I148T allele. Methods: The CFTR genes from individuals who carried at least one copy of the I148T allele were an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e3e27e2c9ad1bc691c73772bf07a5a
https://doi.org/10.1097/00125817-200209000-00001
https://doi.org/10.1097/00125817-200209000-00001
Autor:
Jodi D, Hoffman, Jessica J, Park, Nicole, Schreiber-Agus, Ruth, Kornreich, Alice K, Tanner, Steven, Keiles, Kenneth J, Friedman, Ruth A, Heim
Publikováno v:
Prenatal diagnosis. 34(12)
Although prenatal/preconception carrier screening recommendations for individuals of Ashkenazi Jewish descent (AJ) were published by American College of Medical Genetics and Genomics (2008) and American College of Obstetrics and Gynecology (2009), sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::639dd708c9181bff8a3ffcb786474d83
https://pubmed.ncbi.nlm.nih.gov/24996053
https://pubmed.ncbi.nlm.nih.gov/24996053
Publikováno v:
Human Mutation. 10:108-115
The CFTR intron 8 variable length polythymidine tract modulates the cystic fibrosis (CF) phenotype associated with the mutation R117H. To explore whether other mutations reside on multiple intron 8 backgrounds with discernible impacts on phenotype, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062e1dd280ac9c740937dfe6816588fe
https://doi.org/10.1002/(sici)1098-1004(1997)10:2<108::aid-humu3>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1997)10:2<108::aid-humu3>3.0.co
Autor:
David D. Corns, Arthur S. Aylsworth, Lauren Kam-Morgan, Ruth A. Heim, Rosann A. Farber, Lawrence M. Silverman, Cameron G. Binnie, Matthew C. Cayouette, Michael C. Luce
Publikováno v:
Human Molecular Genetics. 4:975-981
Neurofibromatosis 1 (NF1) is a common genetic disorder characterized by abnormalities of tissues derived from the neural crest. To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fc05e4abd14631a6742523d6db9bf72
https://doi.org/10.1093/hmg/4.6.975
https://doi.org/10.1093/hmg/4.6.975