Zobrazeno 1 - 10
of 16
pro vyhledávání: '"LuAnn Judis"'
Autor:
Apostolos Kontzias, Samaneh K. Zarabi, Cassandra Calabrese, Yan Wang, LuAnn Judis, QingPing Yao, Yu‐Wei Cheng
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS). However, somatic mosa
Externí odkaz:
https://doaj.org/article/a63aeb1a67e3465da7970403cc35d133
Autor:
Eban Tomlinson, Jennifer Goodman, Margaret Loftus, Stephen Bitto, Erica Carpenter, Richard Oddo, LuAnn Judis, Shabab Ali, Wyatt E. Robinson, Miranda Carver, Mariana Ganea, Kristen McDonnell, Diane O'Neill, Jennifer Starbuck, Eric Johnson, Erik Meister, Jonathan Pohl, Jessica Spildener, Sheila Shurtleff, Sheryl Sovie, Cathleen Melendez, Pamela Krebs, Jacquelyn D. Riley, Christine Wensel, Caroline Astbury, Elizabeth M. Azzato, David S. Bosler, Jay E. Brock, James R. Cook, Yu-Wei Cheng, Zheng Jin Tu, Michael Cruise, Walter H. Henricks, Daniel H. Farkas
Publikováno v:
The Journal of Molecular Diagnostics. 24:503-514
The Molecular Pathology Section, Cleveland Clinic (Cleveland, OH), has undergone enhancement of its testing portfolio and processes. An Excel 2013- and paper-based data-management system was replaced with a commercially available laboratory informati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b5f502b959fe4d37c37e3b40a9500c
https://doi.org/10.1016/j.jmoldx.2022.01.002
https://doi.org/10.1016/j.jmoldx.2022.01.002
Autor:
Yu-Wei Cheng, QingPing Yao, Apostolos Kontzias, Yan Wang, Samaneh K. Zarabi, LuAnn Judis, Cassandra Calabrese
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS). However, somatic mosaicism may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03cf5cb7366b15c4a2dca554a4cd2b51
http://europepmc.org/articles/PMC6687656
http://europepmc.org/articles/PMC6687656
Autor:
Annette E. Cockwell, Urvashi Surti, LuAnn Judis, Terry J. Hassold, Sofia Shirley, Lori Hoffner, Andrew Collins, E. Ricky Chan, Heather E. Hall, Patricia A. Jacobs
Publikováno v:
American Journal of Medical Genetics Part A. :2242-2248
Trisomy 13 is one of the most common trisomies in clinically recognized pregnancies and one of the few trisomies identified in liveborns, yet relatively little is known about the errors that lead to trisomy 13. Accordingly, we initiated studies to in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcbbf013d565b32d51a57344858191f6
https://doi.org/10.1002/ajmg.a.31913
https://doi.org/10.1002/ajmg.a.31913
Autor:
Anthony J. Thomas, Stuart Schwartz, Petrice Wynaka Brown, Allen D. Seftel, Terry J. Hassold, E. Ricky Chan, LuAnn Judis
Publikováno v:
The American Journal of Human Genetics. 77(4):556-566
The formation of the synaptonemal complex (SC) is a crucial early step in the meiotic process, but relatively little is known about the establishment of the human SC. Accordingly, we recently initiated a study of synapsis in the human male, combining
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a62f7491af8f7b9b750077835a1370b
Publikováno v:
Cytogenetic and Genome Research. 107:249-255
We combined immunostaining and fluorescence in situ hybridization (FISH) methodology to directly examine meiotic exchanges in over 2,000 pachytene stage spermatocytes from 25 individuals. Our results indicate that, on average, there are about 50 exch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b257806b22d7fc75fa3a06f971737df
https://doi.org/10.1159/000080602
https://doi.org/10.1159/000080602
Autor:
LuAnn Judis, Ulrike Schwarze, Mitchell L. Drumm, Peter H. Byers, Anna L. Mitchell, Polina M. Vaynshtok
Publikováno v:
Connective tissue research. 53(3)
The COL5A1 gene, a member of the clade B fibrillar collagen gene family, was recently shown to contain two alternatively spliced exons (64A and 64B) that encode 23 amino acids in the carboxyl-terminal propeptide. The two are identical in length, very
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2167bef6509f7b3e3d3d0b984d9e7319
https://pubmed.ncbi.nlm.nih.gov/22149965
https://pubmed.ncbi.nlm.nih.gov/22149965
Publikováno v:
Fertility and sterility. 81(1)
Objective To characterize the early stages of meiosis in a male with unexplained azoospermia. Design Case report. Setting Case Western Reserve University and University Hospitals of Cleveland. Patient(s) A 30-year-old male with nonobstructive azoospe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f1073c3e35c3959462507f22825466
https://pubmed.ncbi.nlm.nih.gov/14711569
https://pubmed.ncbi.nlm.nih.gov/14711569
Publikováno v:
Human reproduction (Oxford, England). 17(9)
BACKGROUND: We have been studying an unusual mouse-the BALB/cWt (Wt) male-in which the Y chromosome is susceptible to high rates of mitotic non-disjunction, particularly at the first two cleavage divisions. As these are the same divisions that human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981ff29965c8fb4a2d9c91109d2f2471
https://pubmed.ncbi.nlm.nih.gov/12202426
https://pubmed.ncbi.nlm.nih.gov/12202426
Autor:
Jonathan P Cherry, Kara E. Koehler, Terry J. Hassold, Patricia A. Hunt, Allen D. Seftel, Audrey Lynn, LuAnn Judis, Ernest R. Chan, Stuart Schwartz
Publikováno v:
Science (New York, N.Y.). 296(5576)
Analysis of recombination between loci (linkage analysis) has been a cornerstone of human genetic research, enabling investigators to localize and, ultimately, identify genetic loci. However, despite these efforts little is known about patterns of me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4070138f6136a71884e890f17b7bfa8
https://pubmed.ncbi.nlm.nih.gov/12052900
https://pubmed.ncbi.nlm.nih.gov/12052900