Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Richard L. Neu"'
Publikováno v:
Clinical Genetics. 4:158-161
A newborn infant with a peculiar facies, micrognathia, bifid xiphoid, hyperextensibility of the fingers, inguinal hernia, cryptorchidism, omphalocele and a 46, XY, t(3q…14q +)mal karyotype is described. The causal relationship between the karyotypi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0ec6754de0c768f54320d3d47993aac
https://doi.org/10.1111/j.1399-0004.1973.tb01137.x
https://doi.org/10.1111/j.1399-0004.1973.tb01137.x
Autor:
Hungshu Wang, Lorraine F. Meisner, Lisa G. Shaffer, Shivanand R. Patil, Douglas W. Hershey, Lillian Y. F. Hsu, Gail Stetten, Christine M. Disteche, Fran Williams, Rodney R. Higgins, Colleen Jackson-Cook, Barbara F. Crandall, Gregory A. Mengden, Leonard J. Sciorra, Ann Leslie Zaslav, Roger P. Donahue, Elizabeth Keitges, Robert Wallerstein, Gabriel S. Khodr, Richard L. Neu, Frederick W. Luthardt, Daniel L. Van Dyke, Catherine Lee Bowen, Peter Benn, Lauren S. Jenkins, Maria Y. Rodriguez, Ming Tsung Yu, Chyi-Chyang Lin, Betty Harrison
Publikováno v:
Prenatal Diagnosis. 20:103-122
Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::712156e319e1793d86662027c03677bc
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200002)20:2<103::aid-pd761>3.0.co
Autor:
Judith P. Willner, Arvind Babu, Robert J. Desnick, Richard L. Neu, Patricia Ashton-Prolla, Philip D. Cotter, Randi E. Zinberg, Irina F. Gershin
Publikováno v:
American Journal of Medical Genetics. 73:470-473
An apparently unbalanced karyotype containing an abnormal chromosome 11 was identified in a 16-week female fetus by analysis of cultured amniocytes. Fluorescence in situ hybridization (FISH) with a chromosome 11 paint identified the presence of an in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd99abec6872b58b1ee7598a1fcc6890
https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<470::aid-ajmg17>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<470::aid-ajmg17>3.0.co
Autor:
Tapio J. Pantzar, Philip Wyatt, Lillian Y. F. Hsu, Lisa G. Shaffer, Arthur R. Brothman, Gabriel S. Khodr, Christine M. Disteche, Hungshu Wang, Christy Bradshaw, Richard L. Neu, Rodney R. Higgins, Dagmar K. Kalousek, Peter Benn, Dianne Chadwick, Cynthia C. Morton, Lauren S. Jenkins, Ming Tsung Yu, Daniel L. Van Dyke
Publikováno v:
Prenatal Diagnosis. 17:201-242
In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bec039eca50b3ac5e9c1d6a5f8ab7158
https://doi.org/10.1002/(sici)1097-0223(199703)17:3<201::aid-pd56>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199703)17:3<201::aid-pd56>3.0.co
Publikováno v:
Prenatal Diagnosis. 16:109-115
During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b91b958b83798b15d2b9fbbb258bc70
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<109::aid-pd818>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<109::aid-pd818>3.0.co
Autor:
Richard L. Neu, David H. Lockwood
Publikováno v:
Prenatal diagnosis. 13(9)
Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1351de7e0e218b907090b38bf876dd16
https://pubmed.ncbi.nlm.nih.gov/8278310
https://pubmed.ncbi.nlm.nih.gov/8278310
Autor:
Leonard Eisenfeld, Milen Velinov, Robert M. Greenstein, Peter Benn, M. Vasudeva Kamath, Anne S. Devi, Leslie Ciarleglio, Richard L. Neu
Publikováno v:
American journal of medical genetics. 47(2)
Trisomy 16 is common in embryos and fetuses aborted early during development. Mosaicism for trisomy 16 is sometimes encountered during prenatal diagnosis, particularly with chorionic villi biopsy specimens, and, until recently, was thought to be conf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95ea0ef5421e6db349a11b2b9159c7b
https://pubmed.ncbi.nlm.nih.gov/7977453
https://pubmed.ncbi.nlm.nih.gov/7977453
Publikováno v:
American Journal of Medical Genetics. 65:247-248
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fc0a80e44639b5c2e61c3d9e86eca32
https://doi.org/10.1002/ajmg.1320650402
https://doi.org/10.1002/ajmg.1320650402
Publikováno v:
Prenatal Diagnosis. 15:1196-1197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0827aabacdf0306a2a6909a87272fae6
https://doi.org/10.1002/pd.1970151222
https://doi.org/10.1002/pd.1970151222
Publikováno v:
Clinical Pediatrics. 16:1021-1026
It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classi cal Turner's syndrome. There are profound cytogenetic and clinical dif ferences between the two syndromes, which must be borne in mind in the differential diagnosis of amenor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb21d34247f2bd5c1a03d51562c480e7
https://doi.org/10.1177/000992287701601112
https://doi.org/10.1177/000992287701601112