学术探索
学术期刊
新闻热点
数据分析
智能评审
立即登录
Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
被引:63
作者
:
Brickwood, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Brickwood, S
Bonthron, DT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Bonthron, DT
Al-Gazali, LI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Al-Gazali, LI
Piper, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Piper, K
Hearn, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Hearn, T
Wilson, DI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Wilson, DI
Hanley, NA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Southampton, Div Human Genet, Southampton, Hants, England
Hanley, NA
机构
:
[1]
Univ Southampton, Div Human Genet, Southampton, Hants, England
[2]
Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds, W Yorkshire, England
[3]
UAE Univ, FMHS, Dept Paediat, Al Ain, U Arab Emirates
来源
:
JOURNAL OF MEDICAL GENETICS
|
2003年
/ 40卷
/ 09期
关键词
:
D O I
:
10.1136/jmg.40.9.685
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
[No abstract available]
引用
收藏
页码:685 / 689
页数:5
相关论文
共 19 条
[1]
ALGAZALI LI, 1995, CLIN DYSMORPHOL, V4, P227
[2]
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
Biason-Lauber, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Biason-Lauber, A
Lang-Muritano, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Lang-Muritano, M
Vaccaro, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Vaccaro, T
Schoenle, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Schoenle, EJ
[J].
DIABETES,
2002,
51
(07)
: 2301
-
2305
[3]
Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome
Bonthron, DT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Bonthron, DT
Dunlop, N
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Dunlop, N
Barr, DGD
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Barr, DGD
El Sanousi, AA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
El Sanousi, AA
Al-Gazali, LI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Al-Gazali, LI
[J].
JOURNAL OF MEDICAL GENETICS,
1998,
35
(04)
: 288
-
292
[4]
Endoplasmic reticulum phosphate transport
Burchell, A
论文数:
0
引用数:
0
h-index:
0
Burchell, A
[J].
KIDNEY INTERNATIONAL,
1996,
49
(04)
: 953
-
958
[5]
Blood glucose normalization upon transplantation of human embryonic pancreas into beta-cell-deficient SCID mice
Castaing, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Castaing, M
Péault, B
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Péault, B
Basmaciogullari, A
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Basmaciogullari, A
Casal, I
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Casal, I
Czernichow, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Czernichow, P
Scharfmann, R
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Scharfmann, R
[J].
DIABETOLOGIA,
2001,
44
(11)
: 2066
-
2076
[6]
Wolcott-Rallison syndrome:: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy
Castelnau, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Castelnau, P
论文数:
引用数:
h-index:
机构:
Le Merrer, M
Diatloff-Zito, C
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Diatloff-Zito, C
Marquis, E
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Marquis, E
Tête, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Tête, MJ
Robert, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Robert, JJ
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
2000,
159
(08)
: 631
-
633
[7]
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
Delépine, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Delépine, M
Nicolino, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Nicolino, M
Barrett, T
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Barrett, T
Golamaully, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Golamaully, M
Lathrop, GM
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Lathrop, GM
Julier, C
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Julier, C
[J].
NATURE GENETICS,
2000,
25
(04)
: 406
-
409
[8]
INFANCY-ONSET DIABETES-MELLITUS AND MULTIPLE EPIPHYSEAL DYSPLASIA
DETTMAN, C
论文数:
0
引用数:
0
h-index:
0
DETTMAN, C
RALLISON, ML
论文数:
0
引用数:
0
h-index:
0
RALLISON, ML
[J].
JOURNAL OF PEDIATRICS,
1972,
80
(02)
: 292
-
+
[9]
GOUMY P, 1980, ARCH FR PEDIATR, V37, P323
[10]
Diabetes mellitus and exocrine pancreatic dysfunction in Perk-/- mice reveals a role for translational control in secretory cell survival
Harding, HP
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Harding, HP
Zeng, HQ
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Zeng, HQ
Zhang, YH
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Zhang, YH
Jungries, R
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Jungries, R
Chung, P
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Chung, P
Plesken, H
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Plesken, H
Sabatini, DD
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Sabatini, DD
Ron, D
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Ron, D
[J].
MOLECULAR CELL,
2001,
7
(06)
: 1153
-
1163
←
1
2
→
共 19 条
[1]
ALGAZALI LI, 1995, CLIN DYSMORPHOL, V4, P227
[2]
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
Biason-Lauber, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Biason-Lauber, A
Lang-Muritano, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Lang-Muritano, M
Vaccaro, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Vaccaro, T
Schoenle, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Univ Zurich, Childrens Hosp, Div Endocrinol Diabetol, CH-8032 Zurich, Switzerland
Schoenle, EJ
[J].
DIABETES,
2002,
51
(07)
: 2301
-
2305
[3]
Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome
Bonthron, DT
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Bonthron, DT
Dunlop, N
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Dunlop, N
Barr, DGD
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Barr, DGD
El Sanousi, AA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
El Sanousi, AA
Al-Gazali, LI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland
Al-Gazali, LI
[J].
JOURNAL OF MEDICAL GENETICS,
1998,
35
(04)
: 288
-
292
[4]
Endoplasmic reticulum phosphate transport
Burchell, A
论文数:
0
引用数:
0
h-index:
0
Burchell, A
[J].
KIDNEY INTERNATIONAL,
1996,
49
(04)
: 953
-
958
[5]
Blood glucose normalization upon transplantation of human embryonic pancreas into beta-cell-deficient SCID mice
Castaing, M
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Castaing, M
Péault, B
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Péault, B
Basmaciogullari, A
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Basmaciogullari, A
Casal, I
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Casal, I
Czernichow, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Czernichow, P
Scharfmann, R
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Robert Debre, INSERM, U457, F-75019 Paris, France
Scharfmann, R
[J].
DIABETOLOGIA,
2001,
44
(11)
: 2066
-
2076
[6]
Wolcott-Rallison syndrome:: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy
Castelnau, P
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Castelnau, P
论文数:
引用数:
h-index:
机构:
Le Merrer, M
Diatloff-Zito, C
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Diatloff-Zito, C
Marquis, E
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Marquis, E
Tête, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Tête, MJ
Robert, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
Hop Necker Enfants Malad, Federat Pediat Diabet Enfant & Adolescent, F-75743 Paris 15, France
Robert, JJ
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
2000,
159
(08)
: 631
-
633
[7]
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
Delépine, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Delépine, M
Nicolino, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Nicolino, M
Barrett, T
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Barrett, T
Golamaully, M
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Golamaully, M
Lathrop, GM
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Lathrop, GM
Julier, C
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Inst Pasteur, Lab Genet Predisposit Malad Infect, Paris, France
Julier, C
[J].
NATURE GENETICS,
2000,
25
(04)
: 406
-
409
[8]
INFANCY-ONSET DIABETES-MELLITUS AND MULTIPLE EPIPHYSEAL DYSPLASIA
DETTMAN, C
论文数:
0
引用数:
0
h-index:
0
DETTMAN, C
RALLISON, ML
论文数:
0
引用数:
0
h-index:
0
RALLISON, ML
[J].
JOURNAL OF PEDIATRICS,
1972,
80
(02)
: 292
-
+
[9]
GOUMY P, 1980, ARCH FR PEDIATR, V37, P323
[10]
Diabetes mellitus and exocrine pancreatic dysfunction in Perk-/- mice reveals a role for translational control in secretory cell survival
Harding, HP
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Harding, HP
Zeng, HQ
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Zeng, HQ
Zhang, YH
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Zhang, YH
Jungries, R
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Jungries, R
Chung, P
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Chung, P
Plesken, H
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Plesken, H
Sabatini, DD
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Sabatini, DD
Ron, D
论文数:
0
引用数:
0
h-index:
0
机构:
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
Ron, D
[J].
MOLECULAR CELL,
2001,
7
(06)
: 1153
-
1163
←
1
2
→