Results 211 to 220 of about 142,560 (388)

An automated system for chromosome analysis. Volume 1: Goals, system design, and performance [PDF]

The design, construction, and testing of a complete system to produce karyotypes and chromosome measurement data from human blood samples, and a basis for statistical analysis of quantitative chromosome measurement data is described.
Castleman, K. R., Melnyk, J. H.
core   +1 more source

Spectral Karyotyping

, 2003
Jane, Bayani, Jeremy A, Squire
openaire   +2 more sources

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies. [PDF]

Front Med (Lausanne)
Yin J, Zhang X, Wang Q, Cao Q, Ou H, Zhao Z, Xu S, Wang J, Xia L, Zhang B, Xiao X, Luo T, Wang X.   +12 more
europepmc   +1 more source

Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia.

American Journal of Clinical Pathology, 2015
R. He, A. Wiktor, C. Hanson, R. Ketterling, Paul J. Kurtin, D. V. Van Dyke, M. Litzow, M. Howard, K. Reichard   +8 more
semanticscholar   +1 more source

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]

Clin Case Rep
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc   +1 more source

Karyotype of <i>Presbytis entellus entellus</i> (Primate)

, 1967
T. Sharma, Surabhi Kakati
openalex   +2 more sources

A patient with 45,X-46,XXq--46,XXq-dic karyotype. [PDF]

, 1971
A. C. Stevenson, J Bedford, G M Barberton   +2 more
openalex   +1 more source

Performance of non‐invasive prenatal testing in vanishing‐twin and multiple pregnancies: results of TRIDENT‐2 study

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the performance of non‐invasive prenatal testing (NIPT) in vanishing‐twin and multiple pregnancies. Methods This study was conducted as part of the TRIDENT‐2 study, in which NIPT was offered as a first‐tier screening test to women with a multiple pregnancy or vanishing‐twin pregnancy between 1 June 2020 and 31 March 2023 ...
J. C. A. van Eekhout, C. J. Bax, L. van Prooyen Schuurman, E. C. Becking, A. J. E. M. van der Ven, D. Van Opstal, E. M. J. Boon, M. V. E. Macville, M. N. Bekker, R. J. H. Galjaard, on behalf of the Dutch NIPT Consortium, E.A. Sistermans, L. Henneman, A. Polstra, E. Voorhoeve, S.L. Zelderen‐Bhola, E.M.J. Boon, M.P.R. Lombardi, M.C. Bakker, E.J. Bradley, E.M.J. Boon, C. Louwerens‐Zintel, M. Smit, M.C. van Maarle, M.B. Tan‐Sindhunata, K. van der Meij, H. Meij, C.J. Bax, E. Pajkrt, I.H. Linskens, L. Martin, J.T. Gitsels‐van der Wal, R. J. H. Galjaard, D. van Opstal, M.I. Srebniak, F.M. Sarquis Jehee, I.H.I.M. Hollink, F. Sleutels, W. de Valk, W.H. Deelen, A.M.S. Joosten, K.E.M. Diderich, M.E. Redeker, A.T.J.I. Go, M.F.C.M. Knapen, S. Galjaard, A.K.E. Prinsen, A.P.G. Braat, M.J.V. Hoffer, N.S. den Hollander, E.J.T. Verweij, M.C. Haak, M.V.E. Macville, S.J.C. Stevens, A. van der Wijngaard, L.H. Houben, M.A.A. van Esch‐Lennarts, L. Hamers, A.G.P. Jetten, S.A.I. Ghesquiere, B. de Koning, M. Zamani Esteki, C.J. Heesterbeek, C.E.M. de Die‐Smulders, H. Brunner, M.J. Pieters, A.B.C. Coumans, D.F.C.M. Smeets, B.H.W. Faas, D. Westra, M.M. Weiss, I. Derks‐Prinsen, I. Feenstra, M. van Rij, E. Sikkel, R.F. Suijkerbuijk, B. Sikkema‐Raddatz, I.M. van Langen, K. Bouman, L.K. Duin, G.H. Schuring‐Blom, K.D. Lichtenbelt, M.N. Bekker, E. van Vliet‐Lachotzki, J. Pot, A. J. E. M. van der Ven, S van 't Padje   +86 more
wiley   +1 more source

Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam

The Application of Clinical Genetics
Sang Tien Trieu,1 Minh Duc Pham,2 Hoang Le,3 Hien Van Vo,4 Phong Van Nguyen,1 Tuan Van Tran,2 Nhat Ngoc Nguyen,2 Son The Trinh2 1Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, Vietnam; 2Military Institute of ...
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST   +7 more
doaj