Zobrazeno 1 - 10 of 27 pro vyhledávání: '"R V, Lebo"'
1
An unstable dicentric Robertsonian translocation in a markedly discordant twin
Autor: R V, Lebo, H E, Wyandt, P E, Warburton, S, Li, J M, Milunsky
Publikováno v: Clinical genetics. 62(5)
Karyotypes from independent amniocenteses reflected a rare, unstable, functionally dicentric Robertsonian translocation chromosome in most cells in male Twin B who grew more slowly than the chromosomally normal female sib (Twin A). Twin B's balanced
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c14d5914a85a2489854f6e93162f4239
https://pubmed.ncbi.nlm.nih.gov/12431253
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2
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
Autor: R V, Lebo, T, Ikuta, J M, Milunsky, A, Milunsky
Publikováno v: Clinical genetics. 59(6)
Rett syndrome results from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene, which are nearly always lethal in males and lead to regression and reduced life expectancy in females. Herein we report one propositus with five tandem de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9561d60f7612720e433990422d4e8aaf
https://pubmed.ncbi.nlm.nih.gov/11453972
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3
Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy
Autor: H E, Wyandt, R V, Lebo, E Y, Fenerci, D N, Sadhu, J M, Milunsky
Publikováno v: American journal of medical genetics. 93(4)
A 19-week stillborn female fetus with bilateral cleft palate, horseshoe kidney, bicornuate uterus, low-set ears, and intrauterine growth retardation (IUGR) was found to have a supernumerary derivative chromosome 9 (der(9)) with an apparent tandem dup
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dd0f8ec92ad558c0aba01f95e4044f88
https://pubmed.ncbi.nlm.nih.gov/11337755
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5
Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination
Autor: R V, Lebo, J, Milunsky, A W, Higgins, B, Loose, X L, Huang, H E, Wyandt
Publikováno v: American journal of medical genetics. 85(5)
An amniocyte culture was found to be mosaic for 45,X/46,X, idic(X)(p11.2)/ 47,X, idic(X)(p11.2),idic(X)(p11.2) cell lines, reflecting mitotic nondisjunction of the idic(X)(p11.2) chromosome. Upon learning of abnormal karyotype and ultrasound findings
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1d873d9230e84fdbd48aeb926a51991d
https://pubmed.ncbi.nlm.nih.gov/10405438
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6
Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations
Autor: S E, Hodge, R V, Lebo, A R, Yesley, S M, Cheney, H, Angle, J, Milunsky
Publikováno v: American journal of medical genetics. 82(4)
We describe a general approach to derive fetal risk following two separate test results that each raise the likelihood of the same fetal abnormality without clearly determining whether the abnormality exists. Echogenic bowel observed on fetal ultraso
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::61dbcb26953e3c00d3832b7f858ce372
https://pubmed.ncbi.nlm.nih.gov/10051167
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8
True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities
Autor: H, Sago, E, Chen, W J, Conte, V A, Cox, J D, Goldberg, R V, Lebo, M, Golabi
Publikováno v: American journal of medical genetics. 72(3)
Among 58,000 amniocenteses completed, our laboratories found one case of true cytogenetic trisomy 2 mosaicism in a fetus with multiple abnormalities. In contrast, 11 fetuses phenotypically normal at birth were found to have true trisomy 2 mosaicism i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::958ecfe29ee0fae1094a66725e0dd7d5
https://pubmed.ncbi.nlm.nih.gov/9332667
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9
Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH)
Autor: L C, Yu, D H, Moore, G, Magrane, J, Cronin, D, Pinkel, R V, Lebo, J W, Gray
Publikováno v: Cytometry. 28(3)
Comparative genomic hybridization (CGH) allows entire genomes to be scanned for whole and segmental aneuploidy and thus may be an appropriate tool for the detection of clinically important abnormalities during fetal and neonatal screening. Criteria t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::844f31965c6728c8bcf75488478c7870
https://pubmed.ncbi.nlm.nih.gov/9222103
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10
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
Autor: J B, Ravnan, E, Chen, M, Golabi, R V, Lebo
Publikováno v: American journal of medical genetics. 66(3)
Velocardiofacial syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybridization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db988659b98e46710ead82c330214e42
https://pubmed.ncbi.nlm.nih.gov/8985481
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