Zobrazeno 1 - 10
of 39
pro vyhledávání: '"R H, SMYTHE"'
Publikováno v:
Clinical Genetics. 16:183-190
The identification is reported of an extra bisatellited metacentric microchromosome in amniotic cell culture from the third pregnancy of an identical twin (amniocentesis being performed because of age), and its subsequent finding in the maternal pare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2015869a2651db851a8c182c0bbf33e0
https://doi.org/10.1111/j.1399-0004.1979.tb00989.x
https://doi.org/10.1111/j.1399-0004.1979.tb00989.x
Autor:
R H, SMYTHE
Publikováno v:
The Veterinary record. 59(23)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cb01469f549203018cfa5099cd4512d6
https://pubmed.ncbi.nlm.nih.gov/20251208
https://pubmed.ncbi.nlm.nih.gov/20251208
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
https://doi.org/10.1136/jmg.27.2.109
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/
https://europepmc.org/articles/PMC1050032/
Publikováno v:
Journal of medical genetics. 29(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d532d40a5e62a8c79d5e1e84da97902c
https://pubmed.ncbi.nlm.nih.gov/1640437
https://pubmed.ncbi.nlm.nih.gov/1640437
Publikováno v:
Journal of Medical Genetics. 27:588-589
An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7cd2d06b60f00fd30924796ee44c5f
https://doi.org/10.1136/jmg.27.9.588
https://doi.org/10.1136/jmg.27.9.588
Autor:
D R Romain, C J Chapman, R A Bloxham, H Cairney, L M Columbano-Green, R G Parfitt, R H Smythe
Publikováno v:
Journal of Medical Genetics. 26:133-138
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d73ad050b052c901c7dc7496fab06b
https://doi.org/10.1136/jmg.26.2.133
https://doi.org/10.1136/jmg.26.2.133
Publikováno v:
Human Genetics. 73:164-170
Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802f264f4ed6805fb82279634c24ea68
https://doi.org/10.1007/bf00291608
https://doi.org/10.1007/bf00291608
Autor:
R H Smythe
Publikováno v:
Veterinary Record. 63:359-363
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106af5df5ea7a1a9f178482306ff525a
https://doi.org/10.1136/vr.63.20.359
https://doi.org/10.1136/vr.63.20.359
Publikováno v:
Journal of Medical Genetics. 19:153-155
Two pericentric inversions were found in the karyotype of a male patient referred for psychiatric problems. Cytogenetic analysis, using conventional Giemsa staining and G and C banding techniques, revealed a pericentric inversion in chromosome 2, inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203b74ef87f4b680d65a5be0afa88a54
https://doi.org/10.1136/jmg.19.2.153
https://doi.org/10.1136/jmg.19.2.153