共 20 条
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
被引:10
作者:

Feldmeyer, L
论文数: 0 引用数: 0
h-index: 0
机构:
ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland

Mevorah, B
论文数: 0 引用数: 0
h-index: 0
机构: ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland

Grzeschik, KH
论文数: 0 引用数: 0
h-index: 0
机构: ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland

Huber, M
论文数: 0 引用数: 0
h-index: 0
机构: ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland

Hohl, D
论文数: 0 引用数: 0
h-index: 0
机构: ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland
机构:
[1] ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland
[2] Dept Dermatol, Dermatogenet Unit, Lausanne, Switzerland
[3] Dept Dermatol, Lab Cutaneous Biol, Lausanne, Switzerland
[4] Tel Aviv Sourasky Med Ctr, Dept Dermatol, Tel Aviv, Israel
[5] Univ Marburg, Dept Human Genet, Marburg, Germany
关键词:
Conradi-Hunermann-Happle syndrome;
EBP mutation;
X-linked dominant chondrodysplasia punctata;
X-linked dominant ichthyosis;
D O I:
10.1111/j.1365-2133.2006.07137.x
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
[No abstract available]
引用
收藏
页码:766 / 769
页数:4
相关论文
共 20 条
[1]
Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
[J].
Braverman, N
;
Lin, P
;
Moebius, FF
;
Obie, C
;
Moser, A
;
Glossmann, H
;
Wilcox, WR
;
Rimoin, DL
;
Smith, M
;
Kratz, L
;
Kelley, RI
;
Valle, D
.
NATURE GENETICS,
1999, 22 (03)
:291-294

Braverman, N
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Lin, P
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Moebius, FF
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Obie, C
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

论文数: 引用数:
h-index:
机构:

Glossmann, H
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Wilcox, WR
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Rimoin, DL
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Smith, M
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Kratz, L
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Kelley, RI
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

Valle, D
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA
[2]
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
[J].
Cooper, MK
;
Wassif, CA
;
Krakowiak, PA
;
Taipale, J
;
Gong, RY
;
Kelley, RI
;
Porter, FD
;
Beachy, PA
.
NATURE GENETICS,
2003, 33 (04)
:508-513

Cooper, MK
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Wassif, CA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Krakowiak, PA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Taipale, J
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Gong, RY
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Kelley, RI
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Porter, FD
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

Beachy, PA
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA
[3]
Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
[J].
Derry, JMJ
;
Gormally, E
;
Means, GD
;
Zhao, W
;
Meindl, A
;
Kelley, RI
;
Boyd, Y
;
Herman, GE
.
NATURE GENETICS,
1999, 22 (03)
:286-290

Derry, JMJ
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Gormally, E
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Means, GD
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Zhao, W
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Meindl, A
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Kelley, RI
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Boyd, Y
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA

Herman, GE
论文数: 0 引用数: 0
h-index: 0
机构: Immunex Res & Dev Corp, Seattle, WA 98101 USA
[4]
CUTANEOUS HISTOPATHOLOGY OF CONRADI-HUNERMANN SYNDROME
[J].
HAMAGUCHI, T
;
BONDAR, G
;
SIEGFRIED, E
;
PENNEYS, NS
.
JOURNAL OF CUTANEOUS PATHOLOGY,
1995, 22 (01)
:38-41

HAMAGUCHI, T
论文数: 0 引用数: 0
h-index: 0
机构: ST LOUIS UNIV,SCH MED,DIV DERMATOL,ST LOUIS,MO

BONDAR, G
论文数: 0 引用数: 0
h-index: 0
机构: ST LOUIS UNIV,SCH MED,DIV DERMATOL,ST LOUIS,MO

SIEGFRIED, E
论文数: 0 引用数: 0
h-index: 0
机构: ST LOUIS UNIV,SCH MED,DIV DERMATOL,ST LOUIS,MO

PENNEYS, NS
论文数: 0 引用数: 0
h-index: 0
机构: ST LOUIS UNIV,SCH MED,DIV DERMATOL,ST LOUIS,MO
[5]
X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA - REVIEW OF LITERATURE AND REPORT OF A CASE
[J].
HAPPLE, R
.
HUMAN GENETICS,
1979, 53 (01)
:65-73

HAPPLE, R
论文数: 0 引用数: 0
h-index: 0
机构: Universitäts-Hautklinik, Münster, D-4400
[6]
The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein:: novel mutations, and somatic and gonadal mosaicism
[J].
Has, C
;
Bruckner-Tuderman, L
;
Müller, D
;
Floeth, M
;
Folkers, E
;
Donnai, D
;
Traupe, H
.
HUMAN MOLECULAR GENETICS,
2000, 9 (13)
:1951-1955

Has, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Bruckner-Tuderman, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Müller, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Floeth, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Folkers, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Donnai, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany

Traupe, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munster, Dept Dermatol, D-48149 Munster, Germany
[7]
Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hunermann-Happle syndrome
[J].
Has, C
;
Seedorf, U
;
Kannenberg, F
;
Bruckner-Tuderman, L
;
Folkers, E
;
Fölster-Holst, R
;
Baric, I
;
Traupe, H
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY,
2002, 118 (05)
:851-858

Has, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Seedorf, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Kannenberg, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Bruckner-Tuderman, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Folkers, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Fölster-Holst, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Baric, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany

Traupe, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Muenster, Dept Dermatol, D-48149 Munster, Germany
[8]
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
[J].
Herman, GE
;
Kelley, RI
;
Pureza, V
;
Smith, D
;
Kopacz, K
;
Pitt, J
;
Sutphen, R
;
Sheffield, LJ
;
Metzenberg, AB
.
GENETICS IN MEDICINE,
2002, 4 (06)
:434-438

Herman, GE
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Kelley, RI
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Pureza, V
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Smith, D
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Kopacz, K
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Pitt, J
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Sutphen, R
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Sheffield, LJ
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA

Metzenberg, AB
论文数: 0 引用数: 0
h-index: 0
机构: Childrens Res Inst, Columbus, OH 43205 USA
[9]
Molecular basis of Refsum disease:: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)
[J].
Jansen, GA
;
Waterham, HR
;
Wanders, RJA
.
HUMAN MUTATION,
2004, 23 (03)
:209-218

Jansen, GA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands

Waterham, HR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands

Wanders, RJA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands
[10]
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome
[J].
Kalff-Suske, M
;
Wild, A
;
Topp, J
;
Wessling, M
;
Jacobsen, EM
;
Bornholdt, D
;
Engel, H
;
Heuer, H
;
Aalfs, CM
;
Ausems, MGEM
;
Barone, R
;
Herzog, A
;
Heutink, P
;
Homfray, T
;
Gillessen-Kaesbach, G
;
König, R
;
Kunze, J
;
Meinecke, P
;
Müller, D
;
Rizzo, R
;
Strenge, S
;
Superti-Furga, A
;
Grzeschik, KH
.
HUMAN MOLECULAR GENETICS,
1999, 8 (09)
:1769-1777

Kalff-Suske, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Wild, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Topp, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Wessling, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Jacobsen, EM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Bornholdt, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Engel, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Heuer, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Aalfs, CM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Ausems, MGEM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Barone, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Herzog, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Heutink, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Homfray, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Gillessen-Kaesbach, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

König, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Kunze, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Meinecke, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Müller, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Rizzo, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Strenge, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Superti-Furga, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

Grzeschik, KH
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany