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SpringerLink电子期刊(167)
在“
SpringerLink电子期刊
”中,
命中:
167
条,耗时:小于0.01 秒
在所有数据库中总计命中:
167
条
1.
Investigation of 36 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in a psoriatic arthritis cohort
作者:
Zheng Zhang
;
Jin Yuan
;
Zhen Tian
;
Jinhua Xu…
关键词:
Psoriasis vulgaris
;
Psoriatic arthritis
;
Genetics
;
Single nucleotide polymorphism
刊名:Archives of Dermatological Research
出版年:2017
2.
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
作者:
Magdalena Koczkowska
;
Jolanta Wierzba
;
Robert Śmigiel…
关键词:
22q11.2 deletion syndrome
;
Array comparative genomic hybridization
;
17q21.31 microdeletion syndrome
;
NF1 microduplication syndrome
;
chromosome 6p25.3p25.2 deletion
;
NAALADL2
刊名:Journal of Applied Genetics
出版年:2017
3.
The first patient with a pure
1p36
microtriplication associated with severe clinical phenotypes
作者:
Fang Xu (1) (2)
Ya-Nan Zhang (1)
De-Hua Cheng (1) (2)
Ke Tan (1) (3)
Chang-Gao Zhong (1) (2)
Guang-Xiu Lu (1) (2) (3)
Ge Lin (1) (2) (3)
Yue-Qiu Tan (1) (2)
1. Institute of Reproduction and Stem Cell Engineering
;
Central South University
;
110# Xiangya Road
;
Changsha
;
Hunan
;
410078
;
PR China
2. Reproductive and Genetic Hospital of Citic-Xiangya
;
Changsha
;
Hunan
;
410078
;
PR China
3. National Engineering and Research Center of Human Stem Cell
;
Changsha
;
410078
;
PR China
关键词:
Copy number variations
;
1p36
microtriplication
;
1p36
microdeletion
;
Single nucleotide polymorphism microarray
刊名:Molecular Cytogenetics
出版年:2014
4.
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with
1p36
deletion syndrome and a Prader-Willi-like phenotype
作者:
Stefano Stagi (1) (4)
Elisabetta Lapi (2)
Marilena Pantaleo (2)
Francesco Chiarelli (3)
Salvatore Seminara (1)
Maurizio de Martino (1)
关键词:
Monosomy
1p36
;
Deletion
1p36
;
Developmental delay
;
Mental retardation
;
Seizures
;
Obesity
;
Hyperinsulinism
;
Impaired glucose tolerance
;
Hyperphagia
;
Prader
;
Willi
;
like phenotype
刊名:BMC Medical Genetics
出版年:2014
5.
Chromothripsis with at least 12 breaks at
1p36
.33-p35.3 in a boy with multiple congenital anomalies
作者:
Bruno Faulin Gamba
;
Ant?nio Richieri-Costa
;
Silvia Costa…
关键词:
Complex chromosomal rearrangement
;
Multiple congenital anomalies
;
Array
;
CGH
;
Chromothripsis
刊名:Molecular Genetics and Genomics
出版年:2015
6.
High-resolution copy number analysis of paired normal-tumor samples from diffuse large B cell lymphoma
作者:
Elena Sebastián
;
Miguel Alcoceba
;
David Martín-García
;
Óscar Blanco…
关键词:
Diffuse large B cell lymphoma
;
CNA
;
CNN
;
LOH
;
GC
;
Non
;
GC
;
Paired samples
刊名:Annals of Hematology
出版年:2016
7.
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of
1p36
deletion syndrome
作者:
évelin Aline Zanardo (1) (2)
Flavia Balbo Piazzon (1)
Roberta Lelis Dutra (1) (2)
Alexandre Torchio Dias (1)
Marília Moreira Montenegro (1) (2)
Gil Monteiro Novo-Filho (1) (2)
Thaís Virgínia Moura Machado Costa (1)
Amom Mendes Nascimento (1) (2)
Chong Ae Kim (2)
Leslie Domenici Kulikowski (1) (2)
关键词:
Complex structural rearrangement
;
Chromoanagenesis
;
1p36
syndrome
;
Copy number variation
;
Cytogenomic techniques
刊名:Molecular Genetics and Genomics
出版年:2014
8.
1p36
deletion is a marker for tumour dissemination in microsatellite stable stage II-III colon cancer
作者:
Markus Mayrhofer
;
Hanna G?ransson Kultima
;
Helgi Birgisson
;
Magnus Sundstr?m…
关键词:
Colon cancer
;
Prognostic marker
;
Allele
;
specific copy number analysis
;
Genome duplication
;
1p36
;
Metastasis
;
Tumour dissemination
刊名:BMC Cancer
出版年:2014
9.
Left Ventricular Non-compaction: Is It Genetic?
作者:
Teck Wah Ting
;
Saumya Shekhar Jamuar
;
Maggie Siewyan Brett…
关键词:
1p36
Deletion syndrome
;
Left ventricular non
;
compaction
;
Developmental delay
;
Review of genetic etiology
;
Diagnostic algorithm
刊名:Pediatric Cardiology
出版年:2015
10.
Insertion of an extra copy of Xq22.2 into
1p36
results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
作者:
Julien Masliah-Planchon
;
Céline Dupont
;
George Vartzelis…
刊名:BMC Medical Genetics
出版年:2015
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