Zobrazeno 1 - 10 of 23 pro vyhledávání: '"D R Romain"'
1
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
Autor: Marie A. Shaw, Pietro Chiurazzi, Giovanni Neri, D R Romain, Jozef Gecz
Publikováno v: European Journal of Human Genetics. 10:767-772
The cytogenetic expression of the FRAXF fragile site is due to an expanded, hypermethylated and unstable CGG repeat in Xq28. Normal individuals have 6-38 triplet repeats while individuals expressing the fragile site have expansions of greater than 30
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b74bcc72be4300dd027c91582d8dd7
https://doi.org/10.1038/sj.ejhg.5200881
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2
Fragile site Xq27.3 in a family without mental retardation
Autor: D R Romain, C J Chapman
Publikováno v: Clinical Genetics. 41:33-35
Romain DR. Chapman CJ. Fragile site Xq27.3 in a family without mental retardation. Clin Genet 1992:41: 33–35. Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daeeb2750bf68ff189a67369e39f68ad
https://doi.org/10.1111/j.1399-0004.1992.tb03625.x
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3
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7
Autor: L M Columbano-Green, D Stewart, R G Parfitt, C J Chapman, D R Romain, R H Smythe, H Cairney, M I Parslow, M Garry
Publikováno v: Journal of Medical Genetics. 27:109-113
Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19943222fea6cbb8c717ba4a285ad750
https://doi.org/10.1136/jmg.27.2.109
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4
t(2;14)(q23;q32.3) as the sole abnormality in a patient with acute nonlymphocytic leukemia (FAB-M4)
Autor: D R Romain, L M Columbano-Green, Peter E. Crossen, John M. Carter
Publikováno v: Cancer Genetics and Cytogenetics. 48:255-257
Cytogenetic analysis of bone marow cells from a 53-year-old man with acute nonlymphocytic leukemia (FAB-M4) revealed a t(2;14)(q23;q32.3) as the sole cytogenetic abnormality. This is the first report of a t(2;14)(q23;q32.3) as the sole abnormality in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3020d75a9cbd30e7f9b78a88eec4c3
https://doi.org/10.1016/0165-4608(90)90128-w
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5
Molecular studies of translocations and trisomy involving chromosome 13
Autor: W P, Robinson, F, Bernasconi, F, Dutly, G, Lefort, D R, Romain, F, Binkert, A A, Schinzel
Publikováno v: American journal of medical genetics. 61(2)
Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic(13,13) (p12p12) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::01540ac9cf2373177adec16069202b3c
https://pubmed.ncbi.nlm.nih.gov/8669444
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6
Molecular studies of translocations and trisomy involving chromosome 13
Autor: Albert Schinzel, G. Lefort, Wendy P. Robinson, Franz Binkert, Fabrizio Dutly, D R Romain, F. Bernasconi
Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic(13,13) (p12p12) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7751e0bc77c762fd8f99b22644e20770
https://doi.org/10.5167/uzh-233044
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7
Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35)
Autor: D R Romain, L M Columbano-Green, R G Parfitt, N G Mackenzie, Joanne Dixon, R H Smythe, D Moss
A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowle
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54afc3f50cac420232ec2d0b42893ba6
https://europepmc.org/articles/PMC1050032/
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8
Mosaicism with a normal cell line and an autosomal structural rearrangement
Autor: A. J. Watt, R. J. M. Gardner, P. Tumewu, N. Scobie, H. E. Dockery, R. L. Shaw, R. G. Parfitt, P. H. Fitzgerald, D. R. Romain
Publikováno v: Journal of medical genetics. 31(2)
Over three decades, 12 cases of mosaicism for an autosomal rearrangement were recognised in the major cytogenetics laboratories in New Zealand, eight of which were studied between 1990 and 1992. One case inferentially involved the gonad, eight the so
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361e5eb77d2414a9d8aaf4c37d4a6bf0
https://pubmed.ncbi.nlm.nih.gov/8182714
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10
A rare heteromorphism of chromosome 20 and reproductive loss
Autor: David F. Callen, S Whyte, D R Romain, Helen J. Eyre
A rare centromeric heterochromatic variant of chromosome 20 was encountered during investigations in a couple with repeated miscarriages. The enlarged segment was G and C band positive and stained positively by Giemsa II. In situ hybridisation of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::501823d375a79950c8b35117fba3be24
https://europepmc.org/articles/PMC1016959/
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