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耳聋的基因诊断国际研究文献分析 1967 - 2010

已有 2636 次阅读 2010-9-15 15:46 |个人分类:遗传病学|系统分类:论文交流| 信息分析, 基因诊断, 耳聋

http://news.sciencenet.cn/htmlnews/2010/9/237583.shtm

基因诊断降低聋儿出生率

http://news.sciencenet.cn/news/sub8.aspx?id=343

关注耳聋基因筛查

调查显示,我国听力正常人群中携带耳聋基因突变的比例不低于6%,世界范围内约有2.78亿人患有中度以上的听力损失。因此,每个人都有必要了解和关注自己的听力相关基因健康。

http://www.gopubmed.org/web/gopubmed/WEB01cv7tair6c49sI0I1I0

hearing loss  and  gene detection

235 documents semantically analyzed
 
1 2 
Top Years
Publications
 
2002
 
21
2003
 
21
2008
 
20
2009
 
19
2007
 
18
2010
 
16
2005
 
14
2004
 
14
2000
 
13
2006
 
10
1999
 
10
2001
 
8
1997
 
7
1996
 
7
1998
 
6
1994
 
4
1991
 
4
1995
 
3
1985
 
3
1992
 
2
1 2 
 
1 2 3 
Top Countries
Publications
 
USA
 
64
China
 
16
United Kingdom
 
12
Spain
 
11
Netherlands
 
9
Japan
 
9
France
 
9
Germany
 
8
Italy
 
7
Iran
 
5
Greece
 
5
Australia
 
5
Israel
 
5
South Korea
 
4
Hungary
 
3
Denmark
 
3
Belgium
 
3
Pakistan
 
2
Poland
 
2
Switzerland
 
2
1 2 3 
 
1 2 3 ...6 
Top Cities
Publications
 
Beijing, China
 
6
Boston
 
6
Paris
 
6
Nijmegen
 
6
San Francisco
 
5
Athens
 
4
Changsha
 
4
Freiburg
 
4
Tehran
 
3
Philadelphia
 
3
Valencia, Spain
 
3
Tokyo
 
3
Madrid
 
3
Tel Aviv-Yafo
 
3
Omaha
 
3
Shanghai, China
 
3
Ann Arbor
 
3
Barcelona
 
3
Bethesda
 
3
Trieste
 
2
1 2 3 ...6 
 
1 2 3 ...6 
Top Journals
Publications
 
Hum Mutat
 
18
Int J Pediatr Otorhinolaryngol
 
14
Genet Test
 
10
Am J Hum Genet
 
9
Clin Genet
 
8
J Med Genet
 
8
Laryngoscope
 
8
Am J Med Genet
 
8
Acta Otolaryngol
 
7
Audiol Neurootol
 
5
J Hum Genet
 
4
Arch Otolaryngol Head Neck Surg
 
4
J Assoc Res Otolaryngol
 
4
Otol Neurotol
 
4
Genomics
 
4
Vestn Otorinolaringol
 
3
Hear Res
 
3
Am J Med Genet A
 
3
Otolaryngol Clin North Am
 
3
Am J Otol
 
3
1 2 3 ...6 
 
1 2 3 ...93 
Top Terms
Publications
 
Humans
 
217
Genes
 
206
Mutation
 
170
Hearing Loss
 
162
Deafness
 
155
Patients
 
108
Hearing Loss, Sensorineural
 
82
Connexins
 
82
Gap junction beta-2 protein
 
81
autosome
 
79
Child
 
78
Syndrome
 
78
Heterozygote Detection
 
76
DNA
 
76
DNA Mutational Analysis
 
75
Polymerase Chain Reaction
 
74
Adult
 
73
Pedigree
 
63
Alleles
 
55
Diagnosis
 
51
1 2 3 ...93 
 
1 2 3 ...65 
Top Authors
Publications
 
Cremers C
 
7
Petersen M
 
6
Kimberling W
 
5
Lalwani A
 
5
Antoniadi T
 
5
Estivill X
 
5
Rabionet R
 
5
Lucotte G
 
4
Huygen P
 
4
Griffith A
 
4
Pampanos A
 
4
Petit C
 
4
Zhang X
 
3
Kitamura K
 
3
Moreno F
 
3
Del Castillo I
 
3
Moreno-Pelayo M
 
3
Gürtler N
 
3
Mhatre A
 
3
Keats B
 
3
1 2 3 ...65 

 

 



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