Zobrazeno 1 - 10
of 28
pro vyhledávání: '"E V Davison"'
Autor:
Arri Coomarasamy, S. Pretlove, E. V. Davison, Mark D. Kilby, Eamonn R. Maher, SC Hillman, Dominic J. McMullan
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 37:6-14
Objective Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The aim of this study was to determine whether array CGH testing in the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0091bd70cdea420389a9cd4e1ec349
https://doi.org/10.1002/uog.7754
https://doi.org/10.1002/uog.7754
Publikováno v:
Journal of Intellectual Disability Research. 33:235-244
A case of Prader Willi Syndrome who suffered from hypothyroidism is described. This patient on cytogenetic examination was found to have Mosaic 46,XX/46,XX,det(15Kq11.1q11.2) karyotype.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7f5eea032baf7a075e57283e4b56a1
https://doi.org/10.1111/j.1365-2788.1989.tb01471.x
https://doi.org/10.1111/j.1365-2788.1989.tb01471.x
Publikováno v:
Clinical Genetics. 15:505-508
In a series of eight patients with retinoblastoma, one was found to have a reciprocal translocation of chromosomes 1 and 13. The breakpoint on chromosome 13 is at band q12, which suggests that the retinoblastoma locus is less distal than previously t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c312e2db053274cf82325dea3d73fc08
https://doi.org/10.1111/j.1399-0004.1979.tb00833.x
https://doi.org/10.1111/j.1399-0004.1979.tb00833.x
Publikováno v:
Prenatal Diagnosis. 19:976-979
A case of prenatally diagnosed partial trisomy 8 is described. The ‘syndrome’ is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different feta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7466bc849fe7a8481bf38a3662f5833
https://doi.org/10.1002/(sici)1097-0223(199910)19:10<976::aid-pd665>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199910)19:10<976::aid-pd665>3.0.co
Publikováno v:
Prenatal Diagnosis. 17:780-783
We present a prenatal predictive diagnosis of Prader–Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fdb4e02719340635d9c123a0dec1ee9
https://doi.org/10.1002/(sici)1097-0223(199708)17:8<780::aid-pd133>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199708)17:8<780::aid-pd133>3.0.co
Publikováno v:
Scopus-Elsevier
To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c6f5abe31ed634dc7cc5699cdb393e
https://doi.org/10.1136/jmg.30.9.752
https://doi.org/10.1136/jmg.30.9.752
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 17:531-533
A new fluorescent in situ hybridization (FISH) technique utilizes a complete set of telomeric probes to screen for deletions or rearrangements within the subtelomeric regions of all chromosomes on a single slide. Such cryptic chromosome rearrangement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d60c2d6ae3938e6a85f01b3cee39118
https://doi.org/10.1046/j.1469-0705.2001.00363.x
https://doi.org/10.1046/j.1469-0705.2001.00363.x
Publikováno v:
Prenatal diagnosis. 26(12)
Objectives QF-PCR analysis can be used as a rapid test to diagnose primary trisomy in prenatal samples. Mosaicism in CVS detected by QF-PCR has previously been reported; however, no case has so far been reported in which the QF-PCR result was complet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bbae18f51caf1bd41b6ee26874727f
https://pubmed.ncbi.nlm.nih.gov/17063531
https://pubmed.ncbi.nlm.nih.gov/17063531
Publikováno v:
Prenatal diagnosis. 23(7)
Objectives To add to the knowledge base concerning confined placental mosaicism for trisomy 2. Methods Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amnioc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b339a60759fec7ad06287806a0a3cb
https://pubmed.ncbi.nlm.nih.gov/12868084
https://pubmed.ncbi.nlm.nih.gov/12868084
Publikováno v:
Prenatal diagnosis. 19(10)
A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e1ad606318c06641f9fe1a5419e01698
https://pubmed.ncbi.nlm.nih.gov/10521826
https://pubmed.ncbi.nlm.nih.gov/10521826