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Unique survival in chrondrodysplasia-hermaphrodism syndrome
被引:9
作者
:
Thauvin-Robinet, C
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Thauvin-Robinet, C
[
1
]
Mugneret, F
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Mugneret, F
[
1
]
Callier, P
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Callier, P
[
1
]
Chouchane, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Chouchane, M
[
1
]
Garron, E
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Garron, E
[
1
]
Manceau, E
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Manceau, E
[
1
]
Laurent, N
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Laurent, N
[
1
]
Durand, C
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Durand, C
[
1
]
Nivelon-Chevallier, A
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Nivelon-Chevallier, A
[
1
]
Sapin, E
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Sapin, E
[
1
]
Huet, F
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Huet, F
[
1
]
Faivre, L
论文数:
0
引用数:
0
h-index:
0
机构:
CHU Dijon, Dept Genet, Dijon, France
CHU Dijon, Dept Genet, Dijon, France
Faivre, L
[
1
]
机构
:
[1]
CHU Dijon, Dept Genet, Dijon, France
来源
:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
|
2005年
/ 132A卷
/ 03期
关键词
:
D O I
:
10.1002/ajmg.a.30417
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:335 / 337
页数:3
相关论文
共 6 条
[1]
Sex with two SOX on: SRY and SOX9 in testis development
[J].
Clarkson, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Clarkson, MJ
;
Harley, VR
论文数:
0
引用数:
0
h-index:
0
机构:
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Harley, VR
.
TRENDS IN ENDOCRINOLOGY AND METABOLISM,
2002,
13
(03)
:106
-111
[2]
CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE
[J].
FOSTER, JW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
FOSTER, JW
;
DOMINGUEZSTEGLICH, MA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
DOMINGUEZSTEGLICH, MA
;
GUIOLI, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
GUIOLI, S
;
KWOK, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
KWOK, C
;
WELLER, PA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
WELLER, PA
;
STEVANOVIC, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
STEVANOVIC, M
;
WEISSENBACH, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
WEISSENBACH, J
;
MANSOUR, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
MANSOUR, S
;
YOUNG, ID
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
YOUNG, ID
;
GOODFELLOW, PN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
GOODFELLOW, PN
;
BROOK, JD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
BROOK, JD
;
SCHAFER, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
SCHAFER, AJ
.
NATURE,
1994,
372
(6506)
:525
-530
[3]
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia
[J].
Friedrich, U
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Friedrich, U
;
Schaefer, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Schaefer, E
;
Meinecke, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Meinecke, P
;
Scherer, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Scherer, G
.
CLINICAL DYSMORPHOLOGY,
2000,
9
(03)
:233
-233
[4]
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
[J].
Herman, GE
论文数:
0
引用数:
0
h-index:
0
机构:
Ohio State Univ, Columbus Childrens Res Inst, Ctr Mol & Human Genet, Columbus, OH 43205 USA
Herman, GE
.
HUMAN MOLECULAR GENETICS,
2003,
12
:R75
-R88
[5]
Nivelon A, 1992, Clin Dysmorphol, V1, P221
[6]
AUTOSOMAL SEX REVERSAL AND CAMPOMELIC DYSPLASIA ARE CAUSED BY MUTATIONS IN AND AROUND THE SRY-RELATED GENE SOX9
[J].
WAGNER, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WAGNER, T
;
WIRTH, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WIRTH, J
;
MEYER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
MEYER, J
;
ZABEL, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
ZABEL, B
;
HELD, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
HELD, M
;
ZIMMER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
ZIMMER, J
;
PASANTES, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
PASANTES, J
;
BRICARELLI, FD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
BRICARELLI, FD
;
KEUTEL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
KEUTEL, J
;
HUSTERT, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
HUSTERT, E
;
WOLF, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WOLF, U
;
TOMMERUP, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
TOMMERUP, N
;
SCHEMPP, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
SCHEMPP, W
;
SCHERER, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
SCHERER, G
.
CELL,
1994,
79
(06)
:1111
-1120
←
1
→
共 6 条
[1]
Sex with two SOX on: SRY and SOX9 in testis development
[J].
Clarkson, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Clarkson, MJ
;
Harley, VR
论文数:
0
引用数:
0
h-index:
0
机构:
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Prince Henrys Inst Med Res, Melbourne, Vic 3168, Australia
Harley, VR
.
TRENDS IN ENDOCRINOLOGY AND METABOLISM,
2002,
13
(03)
:106
-111
[2]
CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE
[J].
FOSTER, JW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
FOSTER, JW
;
DOMINGUEZSTEGLICH, MA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
DOMINGUEZSTEGLICH, MA
;
GUIOLI, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
GUIOLI, S
;
KWOK, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
KWOK, C
;
WELLER, PA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
WELLER, PA
;
STEVANOVIC, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
STEVANOVIC, M
;
WEISSENBACH, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
WEISSENBACH, J
;
MANSOUR, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
MANSOUR, S
;
YOUNG, ID
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
YOUNG, ID
;
GOODFELLOW, PN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
GOODFELLOW, PN
;
BROOK, JD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
BROOK, JD
;
SCHAFER, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
SCHAFER, AJ
.
NATURE,
1994,
372
(6506)
:525
-530
[3]
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia
[J].
Friedrich, U
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Friedrich, U
;
Schaefer, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Schaefer, E
;
Meinecke, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Meinecke, P
;
Scherer, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Aarhus, Inst Human Genet, DK-8000 Aarhus C, Denmark
Scherer, G
.
CLINICAL DYSMORPHOLOGY,
2000,
9
(03)
:233
-233
[4]
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
[J].
Herman, GE
论文数:
0
引用数:
0
h-index:
0
机构:
Ohio State Univ, Columbus Childrens Res Inst, Ctr Mol & Human Genet, Columbus, OH 43205 USA
Herman, GE
.
HUMAN MOLECULAR GENETICS,
2003,
12
:R75
-R88
[5]
Nivelon A, 1992, Clin Dysmorphol, V1, P221
[6]
AUTOSOMAL SEX REVERSAL AND CAMPOMELIC DYSPLASIA ARE CAUSED BY MUTATIONS IN AND AROUND THE SRY-RELATED GENE SOX9
[J].
WAGNER, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WAGNER, T
;
WIRTH, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WIRTH, J
;
MEYER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
MEYER, J
;
ZABEL, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
ZABEL, B
;
HELD, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
HELD, M
;
ZIMMER, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
ZIMMER, J
;
PASANTES, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
PASANTES, J
;
BRICARELLI, FD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
BRICARELLI, FD
;
KEUTEL, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
KEUTEL, J
;
HUSTERT, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
HUSTERT, E
;
WOLF, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
WOLF, U
;
TOMMERUP, N
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
TOMMERUP, N
;
SCHEMPP, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
SCHEMPP, W
;
SCHERER, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MAINZ,DEPT PEDIAT,D-55101 MAINZ,GERMANY
SCHERER, G
.
CELL,
1994,
79
(06)
:1111
-1120
←
1
→