共 7 条
[1]
CLINICAL ASPECTS OF X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
[J].
CLARKE, A
;
PHILLIPS, DIM
;
BROWN, R
;
HARPER, PS
.
ARCHIVES OF DISEASE IN CHILDHOOD,
1987, 62 (10)
:989-996

CLARKE, A
论文数: 0 引用数: 0
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机构: UNIV WALES COLL MED,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES

PHILLIPS, DIM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES

BROWN, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES

HARPER, PS
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WALES COLL MED,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES
[2]
Only Four Genes (EDA1, EDAR, EDARADD, and WNT10A) Account for 90% of Hypohidrotic/Anhidrotic Ectodermal Dysplasia Cases
[J].
Cluzeau, Celine
;
Hadj-Rabia, Smail
;
Jambou, Marguerite
;
Mansour, Sourour
;
Guigue, Philippe
;
Masmoudi, Sahben
;
Bal, Elodie
;
Chassaing, Nicolas
;
Vincent, Marie-Claire
;
Viot, Geraldine
;
Clauss, Francois
;
Maniere, Marie-Cecile
;
Toupenay, Steve
;
Le Merrer, Martine
;
Lyonnet, Stanislas
;
Cormier-Daire, Valerie
;
Amiel, Jeanne
;
Faivre, Laurence
;
de Prost, Yves
;
Munnich, Arnold
;
Bonnefont, Jean-Paul
;
Bodemer, Christine
;
Smahi, Asma
.
HUMAN MUTATION,
2011, 32 (01)
:70-77

Cluzeau, Celine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

论文数: 引用数:
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Jambou, Marguerite
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Geeenet Med, F-75015 Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Mansour, Sourour
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Guigue, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Masmoudi, Sahben
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Geeenet Med, F-75015 Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Bal, Elodie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Chassaing, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Purpan, Serv Genet Med, Toulouse, France
Hop Purpan, INSERM, U563, Toulouse, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Vincent, Marie-Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Nouvel Hop Civil, Lab Diagnost Genet, Strasbourg, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Viot, Geraldine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, Serv Gynecol Obstet, F-75674 Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Clauss, Francois
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ, Dept Odontol Pediat, Ctr Reference Natl Malad Genet Express Odontol, Strasbourg, France
Univ Strasbourg, INSERM, Fac Dent, UMR977, Strasbourg, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Maniere, Marie-Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ, Dept Odontol Pediat, Ctr Reference Natl Malad Genet Express Odontol, Strasbourg, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Toupenay, Steve
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Hotel Dieu, Dept Odontol Genet, F-75181 Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Le Merrer, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Lyonnet, Stanislas
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

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Faivre, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Dijon, Ctr Genet, Dijon, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

de Prost, Yves
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France
Hop Necker Enfants Malad, Ctr Reference Natl Malad Genet Express Cutanee MA, Serv Dermatol, F-75015 Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
Univ Paris 05, Paris, France Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

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[3]
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families
[J].
Lexner, M. O.
;
Bardow, A.
;
Juncker, I.
;
Jensen, L. G.
;
Almer, L.
;
Kreiborg, S.
;
Hertz, J. M.
.
CLINICAL GENETICS,
2008, 74 (03)
:252-259

Lexner, M. O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Bardow, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Sch Dent, Dept Oral Med, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Juncker, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Jensen, L. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Almer, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Kreiborg, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark

Hertz, J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus C, Denmark Univ Copenhagen, Sch Dent, Dept Pediat Dent & Clin Genet, DK-2200 Copenhagen N, Denmark
[4]
A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia
[J].
Li, Daxu
;
Xu, Ran
;
Huang, Fumeng
;
Wang, Biyuan
;
Tao, Yu
;
Jiang, Zijian
;
Li, Hairui
;
Yao, Jianfeng
;
Xu, Peng
;
Wu, Xiaokang
;
Ren, Le
;
Zhang, Rui
;
Kelsoe, John R.
;
Ma, Jie
.
JOURNAL OF GENETICS,
2015, 94 (01)
:115-119

Li, Daxu
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Xu, Ran
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Huang, Fumeng
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China
Univ Calif San Diego, Sch Med, Dept Psychiat, San Diego, CA 92093 USA Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Wang, Biyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Tao, Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Jiang, Zijian
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Li, Hairui
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Yao, Jianfeng
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Coll Med, Affiliated Hosp, Xian Hong Hui Hosp, Xian 710054, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Xu, Peng
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Coll Med, Affiliated Hosp, Xian Hong Hui Hosp, Xian 710054, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Wu, Xiaokang
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Affiliated Hosp 2, Xian 710004, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Ren, Le
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Zhang, Rui
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China
Xi An Jiao Tong Univ, Coll Med, Affiliated Hosp, Xian Hong Hui Hosp, Xian 710054, Shaanxi, Peoples R China Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Kelsoe, John R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Sch Med, Dept Psychiat, San Diego, CA 92093 USA Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China

Ma, Jie
论文数: 0 引用数: 0
h-index: 0
机构:
Xi An Jiao Tong Univ, Dept Genet & Mol Biol, Coll Med, Xian 710061, Shaanxi, Peoples R China
Univ Calif San Diego, Sch Med, Dept Psychiat, San Diego, CA 92093 USA Xi An Jiao Tong Univ, Stomatol Clin, Affiliated Hosp 1, Xian 710061, Shaanxi, Peoples R China
[5]
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
[J].
Schneider, P
;
Street, SL
;
Gaide, O
;
Hertig, S
;
Tardivel, A
;
Tschopp, J
;
Runkel, L
;
Alevizopoulos, K
;
Ferguson, BM
;
Zonana, J
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2001, 276 (22)
:18819-18827

Schneider, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Street, SL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Gaide, O
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Hertig, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Tardivel, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Tschopp, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Runkel, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Alevizopoulos, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Ferguson, BM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland

Zonana, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Lausanne, Inst Biochem, BIL Biomed Res Ctr, CH-1066 Epalinges, Switzerland
[6]
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
[J].
van der Hout, Annemarie H.
;
Oudesluijs, Gretel G.
;
Venema, Andrea
;
Verheij, Joke B. G. M.
;
Mol, Bart G. J.
;
Rump, Patrick
;
Brunner, Han G.
;
Vos, Yvonne J.
;
van Essen, Anthonie J.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2008, 16 (06)
:673-679

van der Hout, Annemarie H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

Oudesluijs, Gretel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

Venema, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

Verheij, Joke B. G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

Mol, Bart G. J.
论文数: 0 引用数: 0
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机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

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Brunner, Han G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

Vos, Yvonne J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands

van Essen, Anthonie J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Univ Groningen, Dept Genet, Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands
[7]
Ectodermal dysplasia: Retrospective study of fifteen cases
[J].
Yavuz, I
;
Baskan, M
;
Ulku, R
;
Dulgergil, TC
;
Dari, O
;
Ece, A
;
Yavuz, Y
;
Dari, KO
.
ARCHIVES OF MEDICAL RESEARCH,
2006, 37 (03)
:403-409

Yavuz, I
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Baskan, M
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Ulku, R
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Dulgergil, TC
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Dari, O
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Ece, A
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Yavuz, Y
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey

Dari, KO
论文数: 0 引用数: 0
h-index: 0
机构: Dicle Univ, Fac Dent, Dept Pediat, TR-21280 Diyarbakir, Turkey