共 4 条
[1]
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
[J].
Lindsay, Mark E.
;
Schepers, Dorien
;
Bolar, Nikhita Ajit
;
Doyle, Jefferson J.
;
Gallo, Elena
;
Fert-Bober, Justyna
;
Kempers, Marlies J. E.
;
Fishman, Elliot K.
;
Chen, Yichun
;
Myers, Loretha
;
Bjeda, Djahita
;
Oswald, Gretchen
;
Elias, Abdallah F.
;
Levy, Howard P.
;
Anderlid, Britt-Marie
;
Yang, Margaret H.
;
Bongers, Ernie M. H. F.
;
Timmermans, Janneke
;
Braverman, Alan C.
;
Canham, Natalie
;
Mortier, Geert R.
;
Brunner, Han G.
;
Byers, Peter H.
;
Van Eyk, Jennifer
;
Van Laer, Lut
;
Dietz, Harry C.
;
Loeys, Bart L.
.
NATURE GENETICS,
2012, 44 (08)
:922-+

Lindsay, Mark E.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Helen B Taussig Childrens Heart Ctr, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Doyle, Jefferson J.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Gallo, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Fert-Bober, Justyna
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Div Cardiol, Bayview Prote Ctr, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Kempers, Marlies J. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Fishman, Elliot K.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Chen, Yichun
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Myers, Loretha
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Bjeda, Djahita
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Oswald, Gretchen
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Elias, Abdallah F.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Levy, Howard P.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Anderlid, Britt-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Dept Clin Genet, Karolinska Univ Hosp, Stockholm, Sweden Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Bongers, Ernie M. H. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Timmermans, Janneke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Cardiol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Canham, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
Northwick Pk Hosp & Clin Res Ctr, Dept Clin Genet, NW Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Mortier, Geert R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Brunner, Han G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Van Eyk, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Div Cardiol, Bayview Prote Ctr, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Van Laer, Lut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Dietz, Harry C.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Helen B Taussig Childrens Heart Ctr, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Loeys, Bart L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Univ Ghent, Dept Pediat & Genet, B-9000 Ghent, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
[2]
TRANSFORMING GROWTH FACTOR-BETA-3 IS REQUIRED FOR SECONDARY PALATE FUSION
[J].
PROETZEL, G
;
PAWLOWSKI, SA
;
WILES, MV
;
YIN, MY
;
BOIVIN, GP
;
HOWLES, PN
;
DING, JX
;
FERGUSON, MWJ
;
DOETSCHMAN, T
.
NATURE GENETICS,
1995, 11 (04)
:409-414

PROETZEL, G
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

PAWLOWSKI, SA
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

WILES, MV
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

YIN, MY
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

BOIVIN, GP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

HOWLES, PN
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

DING, JX
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267

论文数: 引用数:
h-index:
机构:

DOETSCHMAN, T
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,COLL MED,DEPT MOLEC GENET BIOCHEM & MICROBIOL,CINCINNATI,OH 45267
[3]
A Mutation in TGFB3 Associated With a Syndrome of Low Muscle Mass, Growth Retardation, Distal Arthrogryposis and Clinical Features Overlapping With Marfan and Loeys-Dietz Syndrome
[J].
Rienhoff, Hugh Young, Jr.
;
Yeo, Chang-Yeol
;
Morissette, Rachel
;
Khrebtukova, Irina
;
Melnick, Jonathan
;
Luo, Shujun
;
Leng, Nan
;
Kim, Yeon-Jin
;
Schroth, Gary
;
Westwick, John
;
Vogel, Hannes
;
McDonnell, Nazli
;
Hall, Judith G.
;
Whitman, Malcolm
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2013, 161 (08)
:2040-2046

Rienhoff, Hugh Young, Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Oakland Res Inst, Oakland, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

论文数: 引用数:
h-index:
机构:

Morissette, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, NIH, Baltimore, MD 21224 USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Khrebtukova, Irina
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Melnick, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Odyssey Thera Inc, San Ramon, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Luo, Shujun
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Leng, Nan
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Kim, Yeon-Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Ewha Womans Univ, Dept Life Sci, Seoul, South Korea Childrens Hosp Oakland Res Inst, Oakland, CA USA

Schroth, Gary
论文数: 0 引用数: 0
h-index: 0
机构:
Illumina Inc, Hayward, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Westwick, John
论文数: 0 引用数: 0
h-index: 0
机构:
Odyssey Thera Inc, San Ramon, CA USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

论文数: 引用数:
h-index:
机构:

McDonnell, Nazli
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, NIH, Baltimore, MD 21224 USA Childrens Hosp Oakland Res Inst, Oakland, CA USA

Hall, Judith G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Childrens Hosp Oakland Res Inst, Oakland, CA USA

Whitman, Malcolm
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Dent Med, Dept Dev Biol, Boston, MA 02115 USA Childrens Hosp Oakland Res Inst, Oakland, CA USA
[4]
Domain-specific mutations of a transforming growth factor (TGF)-β1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-β1
[J].
Saito, T
;
Kinoshita, A
;
Yoshiura, K
;
Makita, Y
;
Wakui, K
;
Honke, K
;
Niikawa, N
;
Taniguchi, N
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2001, 276 (15)
:11469-11472

Saito, T
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Makita, Y
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan

Wakui, K
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan

Honke, K
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan

Niikawa, N
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan

Taniguchi, N
论文数: 0 引用数: 0
h-index: 0
机构: Osaka Univ, Sch Med, Dept Biochem, Suita, Osaka 5650871, Japan
