共 62 条
[31]
ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts
[J].
Kutz, Wendy E.
;
Wang, Lauren W.
;
Bader, Hannah L.
;
Majors, Alana K.
;
Iwata, Kazushi
;
Traboulsi, Elias I.
;
Sakai, Lynn Y.
;
Keene, Douglas R.
;
Apte, Suneel S.
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2011, 286 (19)
:17156-17167

Kutz, Wendy E.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Wang, Lauren W.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Bader, Hannah L.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Majors, Alana K.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Pathobiol, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Iwata, Kazushi
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Traboulsi, Elias I.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Cole Eye Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Sakai, Lynn Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Portland, OR 97201 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Keene, Douglas R.
论文数: 0 引用数: 0
h-index: 0
机构:
Shriners Hosp Children, Portland, OR 97201 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA

Apte, Suneel S.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Biomed Engn, Lerner Res Inst, Cleveland, OH 44195 USA
[32]
Myhre syndrome
[J].
Le Goff, C.
;
Michot, C.
;
Cormier-Daire, V.
.
CLINICAL GENETICS,
2014, 85 (06)
:503-513

Le Goff, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Unite INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Unite INSERM U1163,Inst Imagine, Paris, France

论文数: 引用数:
h-index:
机构:

Cormier-Daire, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Unite INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Unite INSERM U1163,Inst Imagine, Paris, France
[33]
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
[J].
Le Goff, Carine
;
Morice-Picard, Fanny
;
Dagoneau, Nathalie
;
Wang, Lauren W.
;
Perrot, Claire
;
Crow, Yanick J.
;
Bauer, Florence
;
Flori, Elisabeth
;
Prost-Squarcioni, Catherine
;
Krakow, Deborah
;
Ge, Gaoxiang
;
Greenspan, Daniel S.
;
Bonnet, Damien
;
Le Merrer, Martine
;
Munnich, Arnold
;
Apte, Suneel S.
;
Cormier-Daire, Valerie
.
NATURE GENETICS,
2008, 40 (09)
:1119-1123

Le Goff, Carine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Morice-Picard, Fanny
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Dagoneau, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Wang, Lauren W.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Perrot, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Crow, Yanick J.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Bauer, Florence
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Paofai, Papeete, Tahiti, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Flori, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Hautepierre, Dept Genet, F-67000 Strasbourg, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Prost-Squarcioni, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Avicennes, Fac Med, CNRS, UPRES 3410, F-93000 Bobigny, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Ge, Gaoxiang
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Dept Pathol & Lab Med, Madison, WI 53706 USA Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Greenspan, Daniel S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Dept Pathol & Lab Med, Madison, WI 53706 USA Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Bonnet, Damien
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Cardiol Pediat, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

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

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

Apte, Suneel S.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad,AP HP, F-75015 Paris, France
[34]
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
[J].
Le Goff, Carine
;
Mahaut, Clementine
;
Wang, Lauren W.
;
Allali, Slimane
;
Abhyankar, Avinash
;
Jensen, Sacha
;
Zylberberg, Louise
;
Collod-Beroud, Gwenaelle
;
Bonnet, Damien
;
Alanay, Yasemin
;
Brady, Angela. F.
;
Cordier, Marie-Pierre
;
Devriendt, Koen
;
Genevieve, David
;
Kiper, Pelin Ozlem Simsek
;
Kitoh, Hiroshi
;
Krakow, Deborah
;
Lynch, Sally Ann
;
Le Merrer, Martine
;
Megarbane, Andre
;
Mortier, Geert
;
Odent, Sylvie
;
Polak, Michel
;
Rohrbach, Marianne
;
Sillence, David
;
Stolte-Dijkstra, Irene
;
Superti-Furga, Andrea
;
Rimoin, David L.
;
Topouchian, Vicken
;
Unger, Sheila
;
Zabel, Bernhard
;
Bole-Feysot, Christine
;
Nitschke, Patrick
;
Handford, Penny
;
Casanova, Jean-Laurent
;
Boileau, Catherine
;
Apte, Suneel S.
;
Munnich, Arnold
;
Cormier-Dairel, Valerie
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 89 (01)
:7-14

Le Goff, Carine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Mahaut, Clementine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Wang, Lauren W.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Allali, Slimane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Jensen, Sacha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Biochem, Oxford OX1 3QU, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Zylberberg, Louise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, CNRS, UMR71 93, F-75005 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Collod-Beroud, Gwenaelle
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Alanay, Yasemin
论文数: 0 引用数: 0
h-index: 0
机构:
Hacettepe Univ, Fac Med, Dept Pediat, Pediat Genet Unit, TR-06100 Ankara, Turkey Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Brady, Angela. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Northwick Pk Hosp & Clin Res Ctr, Harrow HA1 3UJ, Middx, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Cordier, Marie-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Est, HFME, Serv Genet, F-69677 Bron, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Devriendt, Koen
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Genevieve, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier I, INSERM, U844, Dept Med Genet, F-34000 Montpellier, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Kiper, Pelin Ozlem Simsek
论文数: 0 引用数: 0
h-index: 0
机构:
Hacettepe Univ, Fac Med, Dept Pediat, Pediat Genet Unit, TR-06100 Ankara, Turkey Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Kitoh, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构:
Nagoya Univ, Sch Med, Dept Orthopaed Surg, Aichi 4668550, Japan Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Krakow, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthoped Surg, Los Angeles, CA 90068 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90068 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Lynch, Sally Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp, Natl Ctr Med Genet, Dublin 12, Ireland Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Le Merrer, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Megarbane, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Univ St Joseph, Unite Genet Med, Beirut 11042020, Lebanon Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Odent, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes 1, Hop Sud, Serv Genet Clin, UMR6061, F-35200 Rennes, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Rohrbach, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Connect Tissue Unit, Div Metab, CH-8032 Zurich, Switzerland Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Sillence, David
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Acad Dept Med Genet, Westmead, NSW 2145, Australia Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Stolte-Dijkstra, Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Rimoin, David L.
论文数: 0 引用数: 0
h-index: 0
机构:
Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Topouchian, Vicken
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Dept Pediat Orthoped Surg, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

论文数: 引用数:
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Zabel, Bernhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Freiburg Univ Hosp, Ctr Pediat & Adolescent Med, D-79106 Freiburg, Germany Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Bole-Feysot, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Fdn Imagine, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Nitschke, Patrick
论文数: 0 引用数: 0
h-index: 0
机构: Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Handford, Penny
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Biochem, Oxford OX1 3QU, England Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA
Univ Paris 05, Necker branch, Lab Human Genet Infect Dis, F-75015 Paris, France
Necker Med Sch, INSERM, U980, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Boileau, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Diderot, INSERM, U698, F-92100 Boulogne, France
Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, F-92100 Boulogne, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Apte, Suneel S.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA

Cormier-Dairel, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, INSERM, Dept Genet, Hop Necker Enfants Malad,U781, F-75015 Paris, France Cleveland Clin Fdn, Lerner Res Inst, Dept Biomed Engn, Cleveland, OH 44195 USA
[35]
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
[J].
Le Goff, Carine
;
Mahaut, Clementine
;
Abhyankar, Avinash
;
Le Goff, Wilfried
;
Serre, Valerie
;
Afenjar, Alexandra
;
Destree, Anne
;
di Rocco, Maja
;
Heron, Delphine
;
Jacquemont, Sebastien
;
Marlin, Sandrine
;
Simon, Marleen
;
Tolmie, John
;
Verloes, Alain
;
Casanova, Jean-Laurent
;
Munnich, Arnold
;
Cormier-Daire, Valerie
.
NATURE GENETICS,
2012, 44 (01)
:85-U118

Le Goff, Carine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Mahaut, Clementine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

论文数: 引用数:
h-index:
机构:

Le Goff, Wilfried
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 06, INSERM, Unite Mixte Rech UMR S939, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Serre, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Afenjar, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau, Serv Neuropediat, Ctr Reference Anomalies Dev, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Destree, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
IPG, Inst Genet Humaine, Charleroi, Belgium Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

di Rocco, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Gaslini Inst, Dept Pediat, Unit Rare Dis, Genoa, Italy Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Heron, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Unite Genet Clin, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Jacquemont, Sebastien
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Vaudois, Serv Genet Med, Lausanne, Switzerland Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Marlin, Sandrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau, Unite Genet Clin, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Simon, Marleen
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC Univ, Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Tolmie, John
论文数: 0 引用数: 0
h-index: 0
机构:
Yorkhill Hosp, Ferguson Smith Ctr, Dept Med Genet, Glasgow, Lanark, Scotland Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Verloes, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, INSERM U676, Dept Genet, F-75019 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA
Univ Paris 05, Lab Human Genet Infect Dis, Paris, France
Necker Med Sch, INSERM U980, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France

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

Cormier-Daire, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France Univ Paris 05, Hop Necker Enfants Malad, Unite INSERM U781, Dept Genet, Paris, France
[36]
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
[J].
Loeys, BL
;
Chen, JJ
;
Neptune, ER
;
Judge, DP
;
Podowski, M
;
Holm, T
;
Meyers, J
;
Leitch, CC
;
Katsanis, N
;
Sharifi, N
;
Xu, FL
;
Myers, LA
;
Spevak, PJ
;
Cameron, DE
;
De Backer, J
;
Hellemans, J
;
Chen, Y
;
Davis, EC
;
Webb, CL
;
Kress, W
;
Coucke, P
;
Rifkin, DB
;
De Paepe, AM
;
Dietz, HC
.
NATURE GENETICS,
2005, 37 (03)
:275-281

Loeys, BL
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 21205 USA

Chen, JJ
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 21205 USA

Neptune, ER
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 21205 USA

Judge, DP
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 21205 USA

Podowski, M
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 21205 USA

Holm, T
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 21205 USA

Meyers, 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 21205 USA

Leitch, CC
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 21205 USA

Katsanis, N
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 21205 USA

Sharifi, N
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 21205 USA

Xu, FL
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 21205 USA

Myers, LA
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 21205 USA

Spevak, PJ
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 21205 USA

Cameron, DE
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 21205 USA

De Backer, 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 21205 USA

Hellemans, 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 21205 USA

Chen, Y
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 21205 USA

Davis, EC
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 21205 USA

Webb, CL
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 21205 USA

Kress, W
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 21205 USA

Coucke, 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 21205 USA

Rifkin, DB
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 21205 USA

De Paepe, AM
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 21205 USA

Dietz, HC
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 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
[37]
Marchesani O, 1939, MIBL AUGENHEILK, V103, P392
[38]
ACROMICRIC DYSPLASIA
[J].
MAROTEAUX, P
;
STANESCU, R
;
STANESCU, V
;
RAPPAPORT, R
.
AMERICAN JOURNAL OF MEDICAL GENETICS,
1986, 24 (03)
:447-459

MAROTEAUX, P
论文数: 0 引用数: 0
h-index: 0
机构: HOP NECKER ENFANTS MALAD,CNRS,UNITE 584,F-75743 PARIS 15,FRANCE

STANESCU, R
论文数: 0 引用数: 0
h-index: 0
机构: HOP NECKER ENFANTS MALAD,CNRS,UNITE 584,F-75743 PARIS 15,FRANCE

STANESCU, V
论文数: 0 引用数: 0
h-index: 0
机构: HOP NECKER ENFANTS MALAD,CNRS,UNITE 584,F-75743 PARIS 15,FRANCE

RAPPAPORT, R
论文数: 0 引用数: 0
h-index: 0
机构: HOP NECKER ENFANTS MALAD,CNRS,UNITE 584,F-75743 PARIS 15,FRANCE
[39]
The logic of TGFβ signaling
[J].
Massague, Joan
;
Gomis, Roger R.
.
FEBS LETTERS,
2006, 580 (12)
:2811-2820

Massague, Joan
论文数: 0 引用数: 0
h-index: 0
机构:
Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Canc Biol & Genet Program, New York, NY 10021 USA Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Canc Biol & Genet Program, New York, NY 10021 USA

Gomis, Roger R.
论文数: 0 引用数: 0
h-index: 0
机构:
Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Canc Biol & Genet Program, New York, NY 10021 USA Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Canc Biol & Genet Program, New York, NY 10021 USA
[40]
Critical roles of the TGF-β type I receptor ALK5 in perichondrial formation and function, cartilage integrity, and osteoblast differentiation during growth plate development
[J].
Matsunobu, Tomoya
;
Torigoe, Kiyoyuki
;
Ishikawa, Masaki
;
de Vega, Susana
;
Kulkarni, Ashok B.
;
Iwamoto, Yukihide
;
Yamada, Yoshihiko
.
DEVELOPMENTAL BIOLOGY,
2009, 332 (02)
:325-338

Matsunobu, Tomoya
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA
Kyushu Univ, Grad Sch Med Sci, Dept Orthopaed Surg, Fukuoka 812, Japan NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

Torigoe, Kiyoyuki
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA
Kyushu Univ, Grad Sch Med Sci, Dept Orthopaed Surg, Fukuoka 812, Japan NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

Ishikawa, Masaki
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

de Vega, Susana
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

Kulkarni, Ashok B.
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

Iwamoto, Yukihide
论文数: 0 引用数: 0
h-index: 0
机构:
Kyushu Univ, Grad Sch Med Sci, Dept Orthopaed Surg, Fukuoka 812, Japan NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA

Yamada, Yoshihiko
论文数: 0 引用数: 0
h-index: 0
机构:
NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA NIDCR, Lab Cell & Dev Biol, NIH, Bethesda, MD 20892 USA