共 5 条
PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
被引:309
作者:

VANDERSTEEGE, G
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机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

GROOTSCHOLTEN, PM
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UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

VANDERVLIES, P
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UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

DRAAIJERS, TG
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UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

OSINGA, J
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UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

COBBEN, JM
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机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

论文数: 引用数:
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BUYS, CHCM
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
机构:
[1] UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS
来源:
LANCET
|
1995年
/
345卷
/
8955期
关键词:
D O I:
10.1016/S0140-6736(95)90732-7
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
引用
收藏
页码:985 / 986
页数:2
相关论文
共 5 条
[1]
CONFIRMATION OF CLINICAL-DIAGNOSIS IN REQUESTS FOR PRENATAL PREDICTION OF SMA TYPE-I
[J].
COBBEN, JM
;
DEVISSER, M
;
SCHEFFER, H
;
OSINGA, J
;
VANDERSTEEGE, G
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BUYS, CHCM
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VANOMMEN, GJ
;
TENKATE, LP
.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
1993, 56 (03)
:319-321

COBBEN, JM
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

DEVISSER, M
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

论文数: 引用数:
h-index:
机构:

OSINGA, J
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

VANDERSTEEGE, G
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

BUYS, CHCM
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

VANOMMEN, GJ
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

TENKATE, LP
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS
[2]
IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE
[J].
LEFEBVRE, S
;
BURGLEN, L
;
REBOULLET, S
;
CLERMONT, O
;
BURLET, P
;
VIOLLET, L
;
BENICHOU, B
;
CRUAUD, C
;
MILLASSEAU, P
;
ZEVIANI, M
;
LEPASLIER, D
;
FREZAL, J
;
COHEN, D
;
WEISSENBACH, J
;
MUNNICH, A
;
MELKI, J
.
CELL,
1995, 80 (01)
:155-165

LEFEBVRE, S
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

BURGLEN, L
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

REBOULLET, S
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

CLERMONT, O
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

BURLET, P
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

VIOLLET, L
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

BENICHOU, B
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

CRUAUD, C
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

MILLASSEAU, P
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

ZEVIANI, M
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

LEPASLIER, D
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

FREZAL, J
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

COHEN, D
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

WEISSENBACH, J
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

MUNNICH, A
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

MELKI, J
论文数: 0 引用数: 0
h-index: 0
机构: CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE
[3]
INTERNATIONAL SMA CONSORTIUM MEETING (26-28 JUNE 1992, BONN, GERMANY)
[J].
MUNSAT, TL
;
DAVIES, KE
.
NEUROMUSCULAR DISORDERS,
1992, 2 (5-6)
:423-428

MUNSAT, TL
论文数: 0 引用数: 0
h-index: 0
机构: NEW ENGLAND MED CTR, DEPT NEUROL, BOSTON, MA 02111 USA

DAVIES, KE
论文数: 0 引用数: 0
h-index: 0
机构: NEW ENGLAND MED CTR, DEPT NEUROL, BOSTON, MA 02111 USA
[4]
THE GENE FOR NEURONAL APOPTOSIS INHIBITORY PROTEIN IS PARTIALLY DELETED IN INDIVIDUALS WITH SPINAL MUSCULAR-ATROPHY
[J].
ROY, N
;
MAHADEVAN, MS
;
MCLEAN, M
;
SHUTLER, G
;
YARAGHI, Z
;
FARAHANI, R
;
BAIRD, S
;
BESNERJOHNSTON, A
;
LEFEBVRE, C
;
KANG, XL
;
SALIH, M
;
AUBRY, H
;
TAMAI, K
;
GUAN, XP
;
IOANNOU, P
;
CRAWFORD, TO
;
DEJONG, PJ
;
SURH, L
;
IKEDA, JE
;
KORNELUK, RG
;
MACKENZIE, A
.
CELL,
1995, 80 (01)
:167-178

ROY, N
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

MAHADEVAN, MS
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

MCLEAN, M
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

SHUTLER, G
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

YARAGHI, Z
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

FARAHANI, R
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

BAIRD, S
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

BESNERJOHNSTON, A
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

LEFEBVRE, C
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

KANG, XL
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

SALIH, M
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

AUBRY, H
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

TAMAI, K
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

GUAN, XP
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

IOANNOU, P
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

CRAWFORD, TO
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

DEJONG, PJ
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

SURH, L
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

IKEDA, JE
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

KORNELUK, RG
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA

MACKENZIE, A
论文数: 0 引用数: 0
h-index: 0
机构: CHILDRENS HOSP EASTERN ONTARIO, GENET MOLEC LAB, OTTAWA, ON K1H 8L1, CANADA
[5]
A NOVEL CDNA DETECTS HOMOZYGOUS MICRODELETIONS IN GREATER-THAN 50-PERCENT OF TYPE-I SPINAL MUSCULAR-ATROPHY PATIENTS
[J].
THOMPSON, TG
;
DIDONATO, CJ
;
SIMARD, LR
;
INGRAHAM, SE
;
BURGHES, AHM
;
CRAWFORD, TO
;
ROCHETTE, C
;
MENDELL, JR
;
WASMUTH, JJ
.
NATURE GENETICS,
1995, 9 (01)
:56-62

THOMPSON, TG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

DIDONATO, CJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

SIMARD, LR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

INGRAHAM, SE
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

BURGHES, AHM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

CRAWFORD, TO
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

ROCHETTE, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

MENDELL, JR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717

WASMUTH, JJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717