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Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
被引:31
作者
:
Scriver, CR
论文数:
0
引用数:
0
h-index:
0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ, Canada
McGill Univ, Dept Human Genet, Montreal, PQ, Canada
Scriver, CR
[
1
]
机构
:
[1]
McGill Univ, Dept Human Genet, Montreal, PQ, Canada
来源
:
JOURNAL OF PEDIATRICS
|
2002年
/ 140卷
/ 05期
关键词
:
D O I
:
10.1067/mpd.2002.124316
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
[No abstract available]
引用
收藏
页码:502 / 506
页数:5
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Evolving genomic metaphors: A new look at the language of DNA
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Robustness in simple biochemical networks
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[4]
Blau N, 2001, METABOLIC MOL BASES, P1725
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Laws of form revisited
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Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
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Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
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Modifier genes convert "simple" Mendelian disorders to complex traits
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→
共 40 条
[1]
OMIM passes the 1,000-disease-gene mark
[J].
Antonarakis, SE
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland
Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland
Antonarakis, SE
;
McKusick, VA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland
McKusick, VA
.
NATURE GENETICS,
2000,
25
(01)
:11
-11
[2]
Evolving genomic metaphors: A new look at the language of DNA
[J].
Avise, JC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Georgia, Dept Genet, Athens, GA 30602 USA
Univ Georgia, Dept Genet, Athens, GA 30602 USA
Avise, JC
.
SCIENCE,
2001,
294
(5540)
:86
-87
[3]
Robustness in simple biochemical networks
[J].
Barkai, N
论文数:
0
引用数:
0
h-index:
0
机构:
PRINCETON UNIV,DEPT PHYS,PRINCETON,NJ 08544
Barkai, N
;
Leibler, S
论文数:
0
引用数:
0
h-index:
0
机构:
PRINCETON UNIV,DEPT PHYS,PRINCETON,NJ 08544
Leibler, S
.
NATURE,
1997,
387
(6636)
:913
-917
[4]
Blau N, 2001, METABOLIC MOL BASES, P1725
[5]
Laws of form revisited
[J].
Denton, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Otago, Dept Biochem, Dunedin 9001, New Zealand
Univ Otago, Dept Biochem, Dunedin 9001, New Zealand
Denton, M
;
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论文数:
0
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0
h-index:
0
机构:
Univ Otago, Dept Biochem, Dunedin 9001, New Zealand
Univ Otago, Dept Biochem, Dunedin 9001, New Zealand
Marshall, C
.
NATURE,
2001,
410
(6827)
:417
-417
[6]
Consequences of complexity within biological networks: Robustness and health, or vulnerability and disease
[J].
Dipple, KM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
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论文数:
0
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;
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论文数:
0
引用数:
0
h-index:
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机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
McCabe, ERB
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MOLECULAR GENETICS AND METABOLISM,
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74
(1-2)
:45
-50
[7]
Phenotypes of patients with "simple" mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
[J].
Dipple, KM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Dipple, KM
;
McCabe, ERB
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
McCabe, ERB
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2000,
66
(06)
:1729
-1735
[8]
Modifier genes convert "simple" Mendelian disorders to complex traits
[J].
Dipple, KM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Dipple, KM
;
McCabe, ERB
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
McCabe, ERB
.
MOLECULAR GENETICS AND METABOLISM,
2000,
71
(1-2)
:43
-50
[9]
Nothing in Biology Makes Sense Except in the Light of Evolution
[J].
Dobzhansky, Theodosius
论文数:
0
引用数:
0
h-index:
0
机构:
Rockefeller Univ, New York, NY 10021 USA
Univ Calif Davis, Davis, CA 95616 USA
Rockefeller Univ, New York, NY 10021 USA
Dobzhansky, Theodosius
.
AMERICAN BIOLOGY TEACHER,
2013,
75
(02)
:87
-91
[10]
A European multicenter study of phenylalanine hydroxylase deficiency:: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
[J].
Guldberg, P
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Guldberg, P
;
Rey, F
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Rey, F
;
Zschocke, J
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Zschocke, J
;
Romano, V
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Romano, V
;
François, B
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
François, B
;
Michiels, L
论文数:
0
引用数:
0
h-index:
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机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Michiels, L
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Ullrich, K
论文数:
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引用数:
0
h-index:
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机构:
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Ullrich, K
;
Hoffmann, GF
论文数:
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引用数:
0
h-index:
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机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Hoffmann, GF
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Burgard, P
论文数:
0
引用数:
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h-index:
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机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Burgard, P
;
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引用数:
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机构:
Schmidt, H
;
Meli, C
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Meli, C
;
Riva, E
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Riva, E
;
Dianzani, I
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Dianzani, I
;
Ponzone, A
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Ponzone, A
;
Rey, J
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Rey, J
;
Güttler, F
论文数:
0
引用数:
0
h-index:
0
机构:
John F Kennedy Inst, DK-2600 Glostrup, Denmark
Güttler, F
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998,
63
(01)
:71
-79
←
1
2
3
4
→