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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
被引:74
作者
:
Bolk, S
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Bolk, S
Angrist, M
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Angrist, M
Xie, J
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Xie, J
Yanagisawa, M
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Yanagisawa, M
Silvestri, JM
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Silvestri, JM
WeeseMayer, DE
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
WeeseMayer, DE
Chakravarti, A
论文数:
0
引用数:
0
h-index:
0
机构:
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
Chakravarti, A
机构
:
[1]
CASE WESTERN RESERVE UNIV,CTR HUMAN GENET,CLEVELAND,OH 44106
[2]
UNIV HOSP CLEVELAND,CLEVELAND,OH 44106
[3]
UNIV TEXAS,SW MED CTR,HOWARD HUGHES MED INST,DALLAS,TX 75235
[4]
UNIV TEXAS,SW MED CTR,DEPT MOL GENET,DALLAS,TX 75235
[5]
RUSH UNIV,RUSH PRESBYTERIAN ST LUKES MED CTR,COLL MED,DEPT PEDIAT,CHICAGO,IL 60612
来源
:
NATURE GENETICS
|
1996年
/ 13卷
/ 04期
关键词
:
D O I
:
10.1038/ng0896-395
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:395 / 396
页数:2
相关论文
共 16 条
[1]
AMIEL J, 1995, AM J HUM GENET, V57, P1189
[2]
NEUROCRISTOPATHIES - UNIFYING CONCEPT OF DISEASE ARISING IN NEURAL CREST MALDEVELOPMENT
BOLANDE, RP
论文数:
0
引用数:
0
h-index:
0
机构:
MCGILL UNIV, MONTREAL, QUEBEC, CANADA
BOLANDE, RP
[J].
HUMAN PATHOLOGY,
1974,
5
(04)
: 409
-
429
[3]
BOLK S, IN PRESS AM J MED GE
[4]
ONDINES CURSE AND NEUROCRISTOPATHY
BOWER, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,SURG CLIN,PITTSBURGH,PA 15213
BOWER, RJ
ADKINS, JC
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,SURG CLIN,PITTSBURGH,PA 15213
ADKINS, JC
[J].
CLINICAL PEDIATRICS,
1980,
19
(10)
: 665
-
668
[5]
Chakravarti A, 1996, HUM MOL GENET, V5, P303
[6]
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Edery, P
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Edery, P
Attie, T
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Attie, T
Amiel, J
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Amiel, J
Pelet, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Pelet, A
Eng, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Eng, C
Hofstra, RMW
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Hofstra, RMW
Martelli, H
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Martelli, H
Bidaud, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Bidaud, C
Munnich, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Munnich, A
Lyonnet, S
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Lyonnet, S
[J].
NATURE GENETICS,
1996,
12
(04)
: 442
-
444
[7]
GUILLEMINAULT C, 1982, PEDIATRICS, V70, P684
[8]
CONGENITAL FAILURE OF AUTOMATIC-CONTROL OF VENTILATION, GASTROINTESTINAL MOTILITY AND HEART-RATE
HADDAD, GG
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
HADDAD, GG
MAZZA, NM
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
MAZZA, NM
DEFENDINI, R
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
DEFENDINI, R
BLANC, WA
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
BLANC, WA
DRISCOLL, JM
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
DRISCOLL, JM
EPSTEIN, MAF
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
EPSTEIN, MAF
EPSTEIN, RA
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
EPSTEIN, RA
MELLINS, RB
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
MELLINS, RB
[J].
MEDICINE,
1978,
57
(06)
: 517
-
526
[9]
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
Hofstra, RMW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Hofstra, RMW
Osinga, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Osinga, J
TanSindhunata, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
TanSindhunata, G
Wu, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Wu, Y
Kamsteeg, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Kamsteeg, EJ
Stulp, RP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Stulp, RP
vanRavenswaaijArts, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
vanRavenswaaijArts, C
MajoorKrakauer, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
MajoorKrakauer, D
Angrist, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Angrist, M
Chakravarti, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Chakravarti, A
Meijers, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Meijers, C
Buys, CHCM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Buys, CHCM
[J].
NATURE GENETICS,
1996,
12
(04)
: 445
-
447
[10]
AUTORADIOGRAPHIC LOCALIZATION OF [I-125] ENDOTHELIN-1 BINDING-SITES IN RAT-BRAIN
KOSEKI, C
论文数:
0
引用数:
0
h-index:
0
KOSEKI, C
IMAI, M
论文数:
0
引用数:
0
h-index:
0
IMAI, M
HIRATA, Y
论文数:
0
引用数:
0
h-index:
0
HIRATA, Y
YANAGISAWA, M
论文数:
0
引用数:
0
h-index:
0
YANAGISAWA, M
MASAKI, T
论文数:
0
引用数:
0
h-index:
0
MASAKI, T
[J].
NEUROSCIENCE RESEARCH,
1989,
6
(06)
: 581
-
585
←
1
2
→
共 16 条
[1]
AMIEL J, 1995, AM J HUM GENET, V57, P1189
[2]
NEUROCRISTOPATHIES - UNIFYING CONCEPT OF DISEASE ARISING IN NEURAL CREST MALDEVELOPMENT
BOLANDE, RP
论文数:
0
引用数:
0
h-index:
0
机构:
MCGILL UNIV, MONTREAL, QUEBEC, CANADA
BOLANDE, RP
[J].
HUMAN PATHOLOGY,
1974,
5
(04)
: 409
-
429
[3]
BOLK S, IN PRESS AM J MED GE
[4]
ONDINES CURSE AND NEUROCRISTOPATHY
BOWER, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,SURG CLIN,PITTSBURGH,PA 15213
BOWER, RJ
ADKINS, JC
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS HOSP,SURG CLIN,PITTSBURGH,PA 15213
ADKINS, JC
[J].
CLINICAL PEDIATRICS,
1980,
19
(10)
: 665
-
668
[5]
Chakravarti A, 1996, HUM MOL GENET, V5, P303
[6]
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Edery, P
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Edery, P
Attie, T
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Attie, T
Amiel, J
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Amiel, J
Pelet, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Pelet, A
Eng, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Eng, C
Hofstra, RMW
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Hofstra, RMW
Martelli, H
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Martelli, H
Bidaud, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Bidaud, C
Munnich, A
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Munnich, A
Lyonnet, S
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,INST NECKER,INSERM,U393,SERV GENET MED,F-75743 PARIS,FRANCE
Lyonnet, S
[J].
NATURE GENETICS,
1996,
12
(04)
: 442
-
444
[7]
GUILLEMINAULT C, 1982, PEDIATRICS, V70, P684
[8]
CONGENITAL FAILURE OF AUTOMATIC-CONTROL OF VENTILATION, GASTROINTESTINAL MOTILITY AND HEART-RATE
HADDAD, GG
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
HADDAD, GG
MAZZA, NM
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
MAZZA, NM
DEFENDINI, R
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
DEFENDINI, R
BLANC, WA
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
BLANC, WA
DRISCOLL, JM
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
DRISCOLL, JM
EPSTEIN, MAF
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
EPSTEIN, MAF
EPSTEIN, RA
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
EPSTEIN, RA
MELLINS, RB
论文数:
0
引用数:
0
h-index:
0
机构:
COLUMBIA UNIV,DEPT ANESTHESIOL,NEW YORK,NY 10027
MELLINS, RB
[J].
MEDICINE,
1978,
57
(06)
: 517
-
526
[9]
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
Hofstra, RMW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Hofstra, RMW
Osinga, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Osinga, J
TanSindhunata, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
TanSindhunata, G
Wu, Y
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Wu, Y
Kamsteeg, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Kamsteeg, EJ
Stulp, RP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Stulp, RP
vanRavenswaaijArts, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
vanRavenswaaijArts, C
MajoorKrakauer, D
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
MajoorKrakauer, D
Angrist, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Angrist, M
Chakravarti, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Chakravarti, A
Meijers, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Meijers, C
Buys, CHCM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
Buys, CHCM
[J].
NATURE GENETICS,
1996,
12
(04)
: 445
-
447
[10]
AUTORADIOGRAPHIC LOCALIZATION OF [I-125] ENDOTHELIN-1 BINDING-SITES IN RAT-BRAIN
KOSEKI, C
论文数:
0
引用数:
0
h-index:
0
KOSEKI, C
IMAI, M
论文数:
0
引用数:
0
h-index:
0
IMAI, M
HIRATA, Y
论文数:
0
引用数:
0
h-index:
0
HIRATA, Y
YANAGISAWA, M
论文数:
0
引用数:
0
h-index:
0
YANAGISAWA, M
MASAKI, T
论文数:
0
引用数:
0
h-index:
0
MASAKI, T
[J].
NEUROSCIENCE RESEARCH,
1989,
6
(06)
: 581
-
585
←
1
2
→