Zobrazeno 1 - 10
of 273
pro vyhledávání: '"G, Stetten"'
Publikováno v:
American Journal of Medical Genetics. 53:255-263
A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ec4cecaa2f741023cbd5364aa3b347
https://doi.org/10.1002/ajmg.1320530311
https://doi.org/10.1002/ajmg.1320530311
Publikováno v:
In Vitro Cellular & Developmental Biology - Animal. 27:670-675
During experiments concerning the introduction of oncogenes into normal human keratinocytes, we observed long-lived colonies arising spontaneously at the same low frequency in control cultures as in those transfected with Ha-rasEJ or activated c-myc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69db49f94a9e9122d8e9af74b558dc79
https://doi.org/10.1007/bf02631112
https://doi.org/10.1007/bf02631112
Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
Autor:
C M, Tuck-Muller, B K, Goodman, S, Li, J E, Martinez, X N, Chen, W, Wertelecki, J R, Korenberg, G, Stetten
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 3(2)
To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs).High resolution cytogenetics followed by fluorescence in situ hybridization (FISH) analysis usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aad5d823eb99e77dd7d929ebaef4e298
https://pubmed.ncbi.nlm.nih.gov/11280950
https://pubmed.ncbi.nlm.nih.gov/11280950
Autor:
R, Wallerstein, M T, Yu, R L, Neu, P, Benn, C, Lee Bowen, B, Crandall, C, Disteche, R, Donahue, B, Harrison, D, Hershey, R R, Higgins, L S, Jenkins, C, Jackson-Cook, E, Keitges, G, Khodr, C C, Lin, F W, Luthardt, L, Meisner, G, Mengden, S R, Patil, M, Rodriguez, L J, Sciorra, L G, Shaffer, G, Stetten, D L, Van Dyke, H, Wang
Publikováno v:
Prenatal diagnosis. 20(2)
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=pmid________::42f0bf1af3497b35bd445394f59453cf
https://pubmed.ncbi.nlm.nih.gov/10694683
https://pubmed.ncbi.nlm.nih.gov/10694683
Autor:
B K, Goodman, K, Stone, J M, Coddett, C B, Cargile, E D, Gurewitsch, K J, Blakemore, G, Stetten
Publikováno v:
Prenatal diagnosis. 19(12)
We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd5837c8ee4b6959c1c966efbd15b85b
https://pubmed.ncbi.nlm.nih.gov/10590434
https://pubmed.ncbi.nlm.nih.gov/10590434
Autor:
K D, Smith, S, Kemp, L T, Braiterman, J F, Lu, H M, Wei, M, Geraghty, G, Stetten, J S, Bergin, J, Pevsner, P A, Watkins
Publikováno v:
Neurochemical research. 24(4)
X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::09ba40065f7925cfd08ae7cdf2092ed3
https://pubmed.ncbi.nlm.nih.gov/10227685
https://pubmed.ncbi.nlm.nih.gov/10227685
Publikováno v:
Prenatal diagnosis. 18(8)
Region-specific probes developed for the diagnosis of specific syndrome, can be adapted to elucidate the exact nature of certain chromosomal structural anomalies. We describe the use of FISH probes in characterizing a prenatally diagnosed chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e2a8200da6ddc8c688b036c8075a18a
https://pubmed.ncbi.nlm.nih.gov/9742577
https://pubmed.ncbi.nlm.nih.gov/9742577
Autor:
K F, Doheny, S A, Rasmussen, J, Rutberg, G L, Semenza, J, Stamberg, M, Schwartz, D A, Batista, G, Stetten, G H, Thomas
Publikováno v:
American journal of medical genetics. 69(2)
An interchromosomal insertion in 3 generations of a family was ascertained through two developmentally delayed first cousins. Cytogenetic analysis using G-banding and chromosome painting showed an apparently balanced direct insertion of chromosome 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::482c2ea6b460c5402ffad3bb5cfa077d
https://pubmed.ncbi.nlm.nih.gov/9056559
https://pubmed.ncbi.nlm.nih.gov/9056559
Publikováno v:
American journal of medical genetics. 68(1)
We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::00af970f4b9590626dcfdb96a5f4b4d4
https://pubmed.ncbi.nlm.nih.gov/8986281
https://pubmed.ncbi.nlm.nih.gov/8986281
Autor:
L Y, Hsu, M T, Yu, K E, Richkind, D L, Van Dyke, B F, Crandall, D F, Saxe, G S, Khodr, M, Mennuti, G, Stetten, W A, Miller, J H, Priest
Publikováno v:
Prenatal diagnosis. 16(1)
Among 179,663 prenatal diagnosis cases collected from ten institutions and two publications, 555 (0.3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10.3 per cent) were mosaic for an autosomal structural abnormality, 28 (5 per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71b783bb6d78c6f4c44a9c0c48152fd9
https://pubmed.ncbi.nlm.nih.gov/8821848
https://pubmed.ncbi.nlm.nih.gov/8821848