搜索页_+Microdeletions

常用资源

电子图书

期刊论文

学位会议

外文资源

特色专题

内部出版物

SpringerLink电子期刊(199)

在“SpringerLink电子期刊”中，命中：199条，耗时：小于0.01 秒

在所有数据库中总计命中：199条

1. Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

作者： Yassine Naasse ; Hicham Charoute ; Brahim El Houate ; Chadli Elbekkay…

关键词：Male infertility ; Chromosomal abnormalities ; Y microdeletions ; Severe oligozoospermia ; Azoospermia

刊名：BMC Urology

出版年：2015

2. Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability

作者： M. E. Lopatkina ; A. A. Kashevarova ; I. N. Lebedev

关键词：idiopathic intellectual disability ; CNV ; microdeletion/microduplication syndromes ; CNTN6 ; real ; time PCR ; genotype–phenotype correlations

刊名：Russian Journal of Genetics

出版年：2016

3. Exclusion of chromosomal abnormalities and microdeletions 22q11 and 10p13 in algerian patients with isolated conotruncal malformation

作者：F. Ammar-Khodja (1)
M. Abdellali (2)

关键词：Algeria ; conotruncal heart defects ; FISH ; chromosomal abnormalities ; 22q11 microdeletion ; 10p13 ; 14 microdeletion

刊名：Cytology and Genetics

出版年：2015

4. Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

作者： Jonathan D. J. Labonne ; Yiping Shen ; Il-Keun Kong…

关键词：1p microdeletion ; Intellectual disability ; Delayed psychomotor development ; Craniofacial anomalies ; DAB1 ; HOOK1 ; NFIA ; DOCK7 ; DNAJC6 ; PDE4B

刊名：Molecular Cytogenetics

出版年：2016

5. Test non invasif et anomalies chromosomiques : jusqu'où faut-il aller ?

作者： L. El Khattabi ; J.-M. Dupont

关键词：Noninvasive prenatal testing ; Fetal circulating DNA ; Massively parallel sequencing ; Aneuploidy ; Sex chromosome anomalies

刊名：Revue de m¨¦decine p¨¦rinatale

出版年：2016

6. A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions

作者：Hong-Yun Zheng (1) (2)
Yan Li (1) (2)
Fu-Jin Shen (3)
Yong-Qing Tong (1) (2)

关键词：Male infertility ; Y ; chromosome ; Microdeletions ; Multiplex PCR ; AZFc

刊名：Journal of Assisted Reproduction and Genetics

出版年：2014

7. Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

作者： ANGELOS ALEXANDROU ; IOANNIS PAPAEVRIPIDOU ; KYRIAKOS TSANGARAS…

关键词：Leri–Weill syndrome ; SHOX gene ; intragenic deletion ; haploinsufficiency ; ARMD

刊名：Journal of Genetics

出版年：2016

8. RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome

作者： Susan M. Corley ; Cesar P. Canales ; Paulina Carmona-Mora…

关键词：RNA ; Seq ; Transcriptomics ; Williams ; Beuren syndrome ; Neurodevelopmental disorder

刊名：BMC Genomics

出版年：2016

9. Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

作者：Anna A Kashevarova (1)
Lyudmila P Nazarenko (2) (3)
Soren Schultz-Pedersen (4)
Nikolay A Skryabin (1) (5)
Olga A Salyukova (2) (3)
Nataliya N Chechetkina (2)
Ekaterina N Tolmacheva (1)
Aleksey A Rudko (6)
Pamela Magini (7)
Claudio Graziano (7)
Giovanni Romeo (7)
Shelagh Joss (8)
Zeynep T眉mer (9)
Igor N Lebedev (1) (3)

1. Laboratory of Cytogenetics ; Institute of Medical Genetics ; 10 Nab. Ushaiki ; 634050 ; Tomsk ; Russia
2. Laboratory of Hereditary Pathology ; Institute of Medical Genetics ; Tomsk ; Russia
3. Department of Medical Genetics ; Siberian State Medical University ; Tomsk ; Russia
4. Private Pediatric Clinics 鈥淏ornelaegen Aarhus鈥? Aarhus ; Denmark
5. Laboratory of Human Ontogenetics ; Tomsk State University ; Tomsk ; Russia
6. Genetic Clinic ; Institute of Medical Genetics ; Tomsk ; Russia
7. Unit of Medical Genetics ; Department of Gynecology ; Obstetrics and Pediatrics ; University of Bologna ; Bologna ; Italy
8. Department of Clinical Genetics ; Level 2 ; Laboratory Medicine Building ; Southern General Hospital ; Glasgow ; G51 4TF ; Scotland ; UK
9. Applied Human Molecular Genetics ; Kennedy Center ; Department of Clinical Genetics ; Copenhagen University Hospital ; Rigshospitalet ; Copenhagen ; Denmark

关键词：Intellectual disability ; 3p26.3 microdeletion ; 3p26.3 microduplication ; CNTN6 ; Reciprocal microdeletions/microduplications

刊名：Molecular Cytogenetics

出版年：2014

10. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

作者： Julia K. Ehret ; Hartmut Engels ; Kirsten Cremer ; Jessica Becker…

关键词：Microdeletion 9q33.3 ; q34.11 ; Intellectual disability ; STXBP1 ; Contiguous gene syndrome ; Haploinsufficiency

刊名：Molecular Cytogenetics

出版年：2015

按检索点细分(199)

题名(53)

关键词(24)

文摘(184)

按出版年细分(199)

2016年(7)

2015年(7)

2014年(14)

2013年(17)

2012年(13)

2011年(8)

2010年(14)

2009年(9)

2008年(14)

2007年(13)

2006年(16)

2005年(8)

2004年(3)

2003年(11)

2002年(11)

2001年(16)

2000年(10)

2000年及以前(8)

地址：北京市海淀区学院路29号邮编：100083

电话：办公室：(+86 10)66554848；文献借阅、咨询服务、科技查新：66554700