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SpringerLink电子期刊(42)
在“
SpringerLink电子期刊
”中,
命中:
42
条,耗时:小于0.01 秒
在所有数据库中总计命中:
42
条
1.
Familial
tetrasomy
4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report
作者:
Thomas Bogs
;
Florian Kipfmüller
;
Nicolai Kohlschmidt…
关键词:
Case report
;
Congenital diaphragmatic hernia
;
Unilateral renal agenesis
;
Ear anomaly
;
Partial
tetrasomy
4q35.2
刊名:Journal of Medical Case Reports
出版年:2016
2.
Adults with Chromosome 18 Abnormalities
作者:
Bridgette Soileau
;
Minire Hasi
;
Courtney Sebold…
关键词:
18p
;
18q
;
Tetrasomy
18p
;
Ring 18
;
Chromosome 18
;
De grouchy syndrome
;
Genetic counceling
刊名:Journal of Genetic Counseling
出版年:2015
3.
A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p,
tetrasomy
8 and unbalanced translocation der(19)t(17;19)(q23;p13)
作者:
Christian Paar (1)
Gabriele Herber (1)
Daniela Voskova (2)
Michael Fridrik (2)
Herbert Stekel (1)
J?rg Berg (1) (3)
关键词:
AML
;
Acute monoblastic leukemia
;
Chromosomal abnormalities
;
Fluorescence in situ hybridization (FISH)
;
Multicolor FISH
;
Tetrasomy
8
;
Isochromosome 5p
;
Clonal evolution
刊名:Molecular Cytogenetics
出版年:2013
4.
Masked inv dup(22)(q11.23),
tetrasomy
8 and trisomy 19 in a blast crisis-chronic myeloid leukemia after interrupted Imatinib-treatment
作者:
Abdulsamad Wafa
;
Suher Almedani
;
Thomas Liehr
;
Walid Al-Achkar
关键词:
Chronic myeloid leukemia
;
Philadelphia chromosome
;
inv dup(22)(q11.23)
;
Tetrasomoy 8
;
Clonal evolution
;
Prognostic factors
刊名:Molecular Cytogenetics
出版年:2015
5.
Partial
tetrasomy
of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype
作者:
Andras Szabo
;
Marta Czako
;
Kinga Hadzsiev
;
Balazs Duga…
关键词:
Array CGH
;
Epilepsy
;
Dysmorphism
;
15q duplication syndrome
;
Supernumerary chromosome
刊名:Molecular Cytogenetics
出版年:2015
6.
Trisomy Xp and partial
tetrasomy
Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
作者:
Maria Yiu
;
Zhongxia Qi
;
Anita Ki
;
Jingwei Yu
关键词:
Prenatal diagnosis
;
Sex chromosome abnormality
;
Array CGH
;
X inactivation
;
High risk pregnancy
;
Genetic counseling
;
Chorionic villus sampling
;
Amniocentesis
刊名:Molecular Cytogenetics
出版年:2015
7.
A study of two Chinese patients with
tetrasomy
and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment
作者:
Jing Yang (1)
Yongchen Yang (2)
Yi Huang (1)
Yan Hu (3)
Xi Chen (1)
Hengjuan Sun (1)
Zhibao Lv (2)
Qian Cheng (3)
Liming Bao (1) (2) (4)
关键词:
Chromosome 15
;
Cytogenomic array
;
Copy number
;
Pentasomy
;
Tetrasomy
刊名:BMC Medical Genetics
出版年:2013
8.
Premature ovarian failure due to
tetrasomy
X in an adolescent girl
作者:
Cengiz Kara (1)
Ala üstyol (1)
Ay?egül Y?lmaz (2)
Engin Altunda? (2)
G?nül O?ur (2)
关键词:
48
;
XXXX
;
QF
;
PCR
;
Premature ovarian failure
;
Amenorrhea
;
Mental retardation
刊名:European Journal of Pediatrics
出版年:2014
9.
Mosaic
tetrasomy
9p: a mendelian interferonopathy associated with pediatric-onset overlap myositis
作者:
M-L Frémond
;
C Gitiaux
;
D Bonnet
;
T Guiddir
;
Y Crow…
刊名:Pediatric Rheumatology
出版年:2015
10.
Chromosomal alterations in exfoliated urothelial cells from bladder cancer cases and healthy men: a prospective screening study
作者:
Nadine Bonberg
;
Beate Pesch
;
Thomas Behrens
;
Georg Johnen
;
Dirk Taeger…
关键词:
Aneuploidy
;
Bladder cancer
;
Chromosomal instability
;
Copy number variation
;
DNA gain
;
DNA loss
;
Fluorescence in situ hybridization
;
Tetrasomy
刊名:BMC Cancer
出版年:2014
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