Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Susan M. Zneimer"'
Autor:
Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0161045 (2016)
X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.This retrospective analysis of prospectively collected da
Externí odkaz:
https://doaj.org/article/d12ae733980340c5ad68455cfc4b9385
Autor:
Susan M, Zneimer, Donna, Hongo
Publikováno v:
Current Protocols. 1
Clinical laboratories have many regulations to follow, requiring complete adherence to specific standards and regulations in order to be granted accreditation. As part of the accreditation process, a laboratory must be inspected. Whether it is an ini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62dc310aa703bb80c0258785aa91472f
https://doi.org/10.1002/cpz1.324
https://doi.org/10.1002/cpz1.324
Autor:
Susan M. Zneimer
Publikováno v:
Current protocols in human geneticsLiterature Cited. 105(1)
In order to comply with regulations set by established local, state, and federal agencies and other regulatory organizations, such as the College of American Pathologists and the International Organization for Standardization, a clinical laboratory n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e37aeca645d45fdbee68f8f9faa2b22
https://pubmed.ncbi.nlm.nih.gov/31922364
https://pubmed.ncbi.nlm.nih.gov/31922364
Publikováno v:
Clinical Genetics. 58:129-133
We report a rare case of a de novo end to end fusion of chromosomes 7 and 22 in conjunction with an interstitial deletion of chromosome 7p11.2p15.1 in a newborn with congenital anomalies. The proband presented for chromosome analysis with bilateral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cec9b24215a3dd44b09e172c02ba9ef
https://doi.org/10.1034/j.1399-0004.2000.580207.x
https://doi.org/10.1034/j.1399-0004.2000.580207.x
Publikováno v:
American Journal of Medical Genetics. 45:601-605
A novel combination of conventional and molecular cytogenetic techniques was used to investigate the expression of an X-linked recessive disorder in one of monozygotic (MZ) twin females. These twins carry a deletion, approximately 300 kb in length, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf1f180272944250718590811baaaf9
https://doi.org/10.1002/ajmg.1320450517
https://doi.org/10.1002/ajmg.1320450517
Autor:
Kim S. Lau, Thomas B. Shows, Jacinta L. Chuang, Roger L. Eddy, David T. Chuang, Rody P. Cox, Susan M. Zneimer
Publikováno v:
Genomics. 10:740-747
Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 X 10(6] consisting of at least six distinct subunits. In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1ba3aaeaf2ac5f14f9e885042047ee
https://doi.org/10.1016/0888-7543(91)90458-q
https://doi.org/10.1016/0888-7543(91)90458-q
Publikováno v:
American Journal of Medical Genetics. 38:601-607
Studies in "lower" organisms have identified a set of homologous sequences expressed in oocytes and early embryos that is critical for pattern formation. Mutations in such genes may exhibit maternal effect--they cause abnormalities in the fetus only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8463509dc8cc79ab73ab71fb8681dec7
https://doi.org/10.1002/ajmg.1320380420
https://doi.org/10.1002/ajmg.1320380420
Publikováno v:
Genomics. 8:175-178
Ribonuclease inhibitor (RNH) is a protein that binds tightly to ribonucleases in cells and may be essential in the control of mRNA degradation and gene expression. The human RNH gene has been regionally localized to chromosome band 11p15 by in situ h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5056c1884816a845dd31a64c65cc7d3
https://doi.org/10.1016/0888-7543(90)90242-m
https://doi.org/10.1016/0888-7543(90)90242-m
Publikováno v:
American Journal of Medical Genetics. 80:133-135
We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a "carp" mouth. Fluorescence in situ hybridization using a chromosome 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f6a37db674806f524edd25fc70d47ac
https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<133::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<133::aid-ajmg8>3.0.co
Autor:
Susan M, Zneimer
Publikováno v:
Clinical leadershipmanagement review : the journal of CLMA. 16(3)
The human genome project (HGP) began in 1990 with a projected completion time of 15 years. In that time period, the project expects to complete the sequencing of the total human genome, develop genetic maps to assign genes to specific regions on chro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8fd61b00115cd18849a3fd3bd47a9c2
https://pubmed.ncbi.nlm.nih.gov/12046269
https://pubmed.ncbi.nlm.nih.gov/12046269