共 11 条
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
被引:37
作者:

Bhat, S. S.
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机构:
Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Ladd, S.
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机构:
Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Grass, F.
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h-index: 0
机构: Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Spence, J. E.
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h-index: 0
机构:
Carolinas Med Ctr, Dept Pediat, Charlotte, NC 28203 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Brasington, C. K.
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h-index: 0
机构:
Carolinas Med Ctr, Dept Pediat, Charlotte, NC 28203 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Simensen, R. J.
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Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Schwartz, C. E.
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h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

DuPont, B. R.
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机构:
Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Stevenson, R. E.
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Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

Srivastava, A. K.
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h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA
机构:
[1] Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA
[2] Carolinas Med Ctr, Dept Pediat, Charlotte, NC 28203 USA
关键词:
D O I:
10.1111/j.1399-0004.2007.00920.x
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
引用
收藏
页码:94 / 96
页数:3
相关论文
共 11 条
[1]
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
[J].
Carrié, A
;
Jun, L
;
Bienvenu, T
;
Vinet, MC
;
McDonell, N
;
Couvert, P
;
Zemni, R
;
Cardona, A
;
Van Buggenhout, G
;
Frints, S
;
Hamel, B
;
Moraine, C
;
Ropers, HH
;
Strom, T
;
Howell, GR
;
Whittaker, A
;
Ross, MT
;
Kahn, A
;
Fryns, JP
;
Beldjord, C
;
Marynen, P
;
Chelly, J
.
NATURE GENETICS,
1999, 23 (01)
:25-31

Carrié, A
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Jun, L
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Bienvenu, T
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Vinet, MC
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

McDonell, N
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Couvert, P
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Zemni, R
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Cardona, A
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Van Buggenhout, G
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Frints, S
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Hamel, B
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Moraine, C
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Ropers, HH
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Strom, T
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Howell, GR
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Whittaker, A
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Ross, MT
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Kahn, A
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Fryns, JP
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Beldjord, C
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Marynen, P
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

Chelly, J
论文数: 0 引用数: 0
h-index: 0
机构: CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France
[2]
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
[J].
Jin, H
;
Gardner, RJ
;
Viswesvaraiah, R
;
Muntoni, F
;
Roberts, RG
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2000, 8 (02)
:87-94

Jin, H
论文数: 0 引用数: 0
h-index: 0
机构: Guys Hosp, Div Med & Mol Genet, GKT Med Sch, London SE1 9RT, England

Gardner, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Guys Hosp, Div Med & Mol Genet, GKT Med Sch, London SE1 9RT, England

Viswesvaraiah, R
论文数: 0 引用数: 0
h-index: 0
机构: Guys Hosp, Div Med & Mol Genet, GKT Med Sch, London SE1 9RT, England

Muntoni, F
论文数: 0 引用数: 0
h-index: 0
机构: Guys Hosp, Div Med & Mol Genet, GKT Med Sch, London SE1 9RT, England

Roberts, RG
论文数: 0 引用数: 0
h-index: 0
机构: Guys Hosp, Div Med & Mol Genet, GKT Med Sch, London SE1 9RT, England
[3]
Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation
[J].
Leprêtre, F
;
Delannoy, V
;
Froguel, P
;
Vasseur, F
;
Montpellier, C
.
CYTOGENETIC AND GENOME RESEARCH,
2003, 101 (02)
:124-129

Leprêtre, F
论文数: 0 引用数: 0
h-index: 0
机构: Inst Biol Lille, CNRS, UPR 2511, UMR 8090, F-59021 Lille, France

Delannoy, V
论文数: 0 引用数: 0
h-index: 0
机构: Inst Biol Lille, CNRS, UPR 2511, UMR 8090, F-59021 Lille, France

Froguel, P
论文数: 0 引用数: 0
h-index: 0
机构: Inst Biol Lille, CNRS, UPR 2511, UMR 8090, F-59021 Lille, France

Vasseur, F
论文数: 0 引用数: 0
h-index: 0
机构: Inst Biol Lille, CNRS, UPR 2511, UMR 8090, F-59021 Lille, France

Montpellier, C
论文数: 0 引用数: 0
h-index: 0
机构: Inst Biol Lille, CNRS, UPR 2511, UMR 8090, F-59021 Lille, France
[4]
Multi-site study of the childhood autism rating scale (CARS) in five clinical groups of young children
[J].
Perry, A
;
Condillac, RA
;
Freeman, NL
;
Dunn-Geier, J
;
Belair, J
.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS,
2005, 35 (05)
:625-634

论文数: 引用数:
h-index:
机构:

Condillac, RA
论文数: 0 引用数: 0
h-index: 0
机构: York Univ, ClinDev Psychol Program, Toronto, ON M3J 1P3, Canada

Freeman, NL
论文数: 0 引用数: 0
h-index: 0
机构: York Univ, ClinDev Psychol Program, Toronto, ON M3J 1P3, Canada

Dunn-Geier, J
论文数: 0 引用数: 0
h-index: 0
机构: York Univ, ClinDev Psychol Program, Toronto, ON M3J 1P3, Canada

Belair, J
论文数: 0 引用数: 0
h-index: 0
机构: York Univ, ClinDev Psychol Program, Toronto, ON M3J 1P3, Canada
[5]
X-linked mental retardation: many genes for a complex disorder
[J].
Ropers, HH
.
CURRENT OPINION IN GENETICS & DEVELOPMENT,
2006, 16 (03)
:260-269

Ropers, HH
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[6]
X-linked mental retardation
[J].
Ropers, HH
;
Hamel, BCJ
.
NATURE REVIEWS GENETICS,
2005, 6 (01)
:46-57

Ropers, HH
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Hamel, BCJ
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[7]
Mental retardation in a boy with congenital adrenal hypoplasia:: A clue to contiguous gene syndrome involving DAX1 and 1L1RAPL
[J].
Sasaki, R
;
Inamo, Y
;
Saitoh, K
;
Hasegawa, T
;
Kinoshita, E
;
Ogata, T
.
ENDOCRINE JOURNAL,
2003, 50 (03)
:303-307

Sasaki, R
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan

Inamo, Y
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan

Saitoh, K
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan

Hasegawa, T
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan

Kinoshita, E
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan

Ogata, T
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Setagaya Ku, Tokyo 1548567, Japan
[8]
Clinical and molecular contributions to the understanding of X-linked mental retardation
[J].
Stevenson, RE
;
Schwartz, CE
.
CYTOGENETIC AND GENOME RESEARCH,
2002, 99 (1-4)
:265-275

Stevenson, RE
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Schwartz, CE
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA
[9]
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
[J].
Tabolacci, E
;
Pomponi, MG
;
Pietrobono, R
;
Terracciano, A
;
Chiurazzi, P
;
Neri, G
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2006, 140A (05)
:482-487

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Pietrobono, R
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy

Terracciano, A
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy

Chiurazzi, P
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy

Neri, G
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy Univ Sacred Heart, Ist Genet Med, I-00168 Rome, Italy
[10]
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
[J].
Wheway, JM
;
Yau, SC
;
Nihalani, V
;
Ellis, D
;
Irving, M
;
Splitt, M
;
Roberts, RG
.
JOURNAL OF MEDICAL GENETICS,
2003, 40 (02)
:127-131

Wheway, JM
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Yau, SC
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Nihalani, V
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Ellis, D
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Irving, M
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Splitt, M
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England

Roberts, RG
论文数: 0 引用数: 0
h-index: 0
机构: Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England