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CNKI学位论文(1)
在“
SpringerLink电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Position effect modifying gene expression in a patient with ring chromosome 14
作者:
Roberta
Santos
Guilherme
;
Mariana Moysés-Oliveira…
关键词:
Ring chromosome
;
Gene expression
;
qPCR and clinical phenotype
刊名:Journal of Applied Genetics
出版年:2016
2.
Terminal 18q deletions are stabilized by neotelomeres
作者:
Roberta
Santos
Guilherme
;
Karen E Hermetz…
关键词:
Terminal 18q deletion
;
Breakpoint sequencing
;
Telomere healing
;
Telomere capture
;
Neotelomere
;
Stabilization mechanism
刊名:Molecular Cytogenetics
出版年:2015
3.
Duplication 9p and their implication to phenotype
作者:
Roberta
Santos
Guilherme
;
Vera Ayres Meloni…
关键词:
9p duplication
;
Trisomy 9p
;
Centromere
;
FISH
;
SNP
;
array
;
Karyotype
;
phenotype correlation
刊名:BMC Medical Genetics
出版年:2014
4.
Ring chromosome 10: report on two patients and review of the literature
作者:
Roberta
Santos
Guilherme
(1)
Chong Ae Kim (2)
Luis Garcia Alonso (1)
Rachel S. Honjo (2)
Vera Ayres Meloni (1)
Denise Maria Christofolini (3)
Leslie Domenici Kulikowski (4)
Maria Isabel Melaragno (1)
关键词:
FISH
;
SNP
;
array
;
Ring chromosome
;
Ring instability
刊名:Journal of Applied Genetics
出版年:2013
5.
Human ring chromosomes and small supernumerary marker chromosomes—do they have telomeres?
作者:
Roberta
Santos
Guilherme
(1) (2)
Elisabeth Klein (1)
Claudia Venner (1)
Ahmed B. Hamid (1)
Samarth Bhatt (1)
Maria Isabel Melaragno (2)
Marianne Volleth (3)
Anna Polityko (4)
Anna Kulpanovich (4)
Nadezda Kosyakova (1)
Thomas Liehr (1) (5)
关键词:
telomeres
;
fluorescence in situ hybridization (FISH)
;
ring chromosomes
;
small supernumerary marker chromosomes (sSMC)
刊名:Chromosome Research
出版年:2012
6.
How to narrow down chromosomal breakpoints in small and large derivative chromosomes -a new probe set
作者:
Ahmed B. Hamid (1)
Katharina Kreskowski (1)
Anja Weise (1)
Nadezda Kosayakova (1)
Kristin Mrasek (1)
Martin Voigt (1)
Roberta
Santos
Guilherme
(1)
Rebecca Wagner (1)
David Hardekopf (2)
Sona Pekova (2)
Tatyana Karamysheva (3)
Thomas Liehr (1) (4)
Elisabeth Klein (1)
关键词:
Chromosomal breakpoints
;
Fluorescence in situ hybridization (FISH)
;
Pericentric
;
ladder
;
FISH (PCL
;
FISH)
;
Small supernumerary marker chromosomes (sSMC)
刊名:Journal of Applied Genetics
出版年:2012
7.
Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
作者:
Elisabeth Klein (1)
Marina Manvelyan (1) (2) (3)
Isabella Simonyan (2)
Ahmed B Hamid (1)
Roberta
Santos
Guilherme
(1)
Thomas Liehr (1)
Tatyana Karamysheva (1) (4)
刊名:Molecular Cytogenetics
出版年:2012
1
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