Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Janet E. Ulm"'
1
Recurrent Trisomies: Chance or Inherited Predisposition?
Autor: Janet E. Ulm
Publikováno v: Journal of genetic counseling. 8(2)
Two patients experiencing recurring trisomic pregnancies involving a different chromosome each time are presented. Mechanisms to explain recurrent trisomies include a gene or genes predisposing to nondisjunction in general or to nondisjunction of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c65f4b76db7dac96af2c3d35373b90
https://pubmed.ncbi.nlm.nih.gov/26141972
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2
Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15
Autor: Irene A. Saikevych, Janet E. Ulm, Eric J. Hall, Jaime Garcia-Heras, David E. Shaver
Publikováno v: Prenatal Diagnosis. 18:747-750
A karyotype 46,X,der(X)t(X;15)(p22.2;q11.2) derived from a maternal translocation X;15 was ascertained in a female fetus through an abnormal triple screen test at 16 weeks that gave a 1/56 risk for Down syndrome. The pregnancy was terminated at 19·5
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d83f624f31f6f6726b7ba8d71b3270b4
https://doi.org/10.1002/(sici)1097-0223(199807)18:7<747::aid-pd332>3.0.co
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4
Cordocentesis for rapid karyotyping
Autor: Frank H. Boehm, Periclis Roussis, Dinesh M. Shah, Janet E. Ulm, Phillipe Jeanty
Publikováno v: American Journal of Obstetrics and Gynecology. 162:1548-1553
Pure fetal blood was obtained by cordocentesis in 101 fetuses of 96 patients at 15 to 38 weeks' gestation. Rapid karyotype was obtained within 2 to 4 days by fetal lymphocyte culture. Chromosomal abnormality was detected in 12 (11.9%) fetuses. Abnorm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6921cdebed7e045080525c4cefbb5b2c
https://doi.org/10.1016/0002-9378(90)90919-x
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5
Counseling and decision dilemmas associated with fetal blood sampling
Autor: John A. Phillips, V. G. Dev, Dinesh M. Shah, Janet E. Ulm
Publikováno v: American Journal of Medical Genetics. 35:75-78
Counseling before fetal blood sampling via cordocentesis is more difficult than that done before amniocentesis because 1) a fetal anomaly has been detected or is very likely, 2) the cordocentesis procedure may have a higher risk than does amniocentes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa25e624b00ab4510a2202eab9680c78
https://doi.org/10.1002/ajmg.1320350114
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6
Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: implications for the Human Genome Project
Autor: Janet E. Ulm, Patrick Bosque, Cindy L. Vnencak-Jones
Publikováno v: Journal of genetic counseling. 2(1)
A research study to identify the priori gene mutation in a family with familial Creutzfeldt-Jakob disease (FCJD) evolved into presymptomatic diagnostic testing. Our experience with one case raises concerns regarding similar studies that will ensue as
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be80214e1c4b3ffadfb290aac9aba0b0
https://pubmed.ncbi.nlm.nih.gov/11659811
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7
Prenatal diagnosis of fetal cephalocele: a sonographic spectrum
Autor: Arthur C. Fleischer, P Jeanty, Janet E. Ulm, Dinesh M. Shah, Witold Zaleski
Publikováno v: American journal of perinatology. 8(2)
We present the findings in a series of 15 fetuses diagnosed as having a cephalocele. Eleven cephaloceles were located in the occipital region and two each at the vertex and the frontonasal region. Eleven fetuses were diagnosed before 24 week's gestat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ba5dc3cc8b39bfa89c9358aa0d6713
https://pubmed.ncbi.nlm.nih.gov/2006942
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8
The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis
Autor: Merlin G. Butler, Vaithilingam G. Dev, Dinesh Shah, Janet E. Ulm, Patrick L. Wilmot, Lawrence R. Shapiro, John M. Opitz, James F. Reynolds
Publikováno v: American journal of medical genetics. 31(4)
Early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17-week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal ly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23097fd9b40fe44efdd8ba5caaf572e0
https://pubmed.ncbi.nlm.nih.gov/3239566
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9
Diagnosis of trisomy 18 in monozygotic twins by cordocentesis
Autor: Janet E. Ulm, Dinesh M. Shah, Phillipe Jeanty, V. G. Dev, John A. Phillips
Publikováno v: American Journal of Obstetrics and Gynecology. 160:214-215
The incidence of monozygotic twins with trisomy 18 is 1 in 1,000,000 births. We report a case diagnosed prenatally with lymphocyte culture from fetal blood samples obtained by cordocentesis. Fetal growth lag and structural malformations detected by u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7dc2e90e70cdd3247aa901394b118d3
https://doi.org/10.1016/0002-9378(89)90124-5
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10
Akademický článek
Recurrent Trisomies: Chance or Inherited Predisposition?
Autor: Ulm JE; Presbyterian Laboratory Services, Presbyterian Healthcare System, Charlotte, NC. Janet E. Ulm, Perinatal Diagnostic Center, Charlotte, NC, 28204, jeu1@phsc.com.
Publikováno v: Journal of genetic counseling [J Genet Couns] 1999 Apr; Vol. 8 (2), pp. 109-17.
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