共 6 条
[1]
Severe Marfan syndrome due to FBN1 exon deletions
[J].
Blyth, Moira
;
Foulds, Nicola
;
Turner, Claire
;
Bunyan, David
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2008, 146A (10)
:1320-1324

Blyth, Moira
论文数: 0 引用数: 0
h-index: 0
机构:
Wessex Clin Genet Serv, Southampton, Hants, England Wessex Clin Genet Serv, Southampton, Hants, England

Foulds, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Wessex Clin Genet Serv, Southampton, Hants, England Wessex Clin Genet Serv, Southampton, Hants, England

Turner, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Wessex Clin Genet Serv, Southampton, Hants, England Wessex Clin Genet Serv, Southampton, Hants, England

Bunyan, David
论文数: 0 引用数: 0
h-index: 0
机构:
Wessex Reg Genet Lab, Salisbury, Wilts, England Wessex Clin Genet Serv, Southampton, Hants, England
[2]
The clinical spectrum of complete FBN1 allele deletions
[J].
Hilhorst-Hofstee, Yvonne
;
Hamel, Ben C. J.
;
Verheij, Joke B. G. M.
;
Rijlaarsdam, Marry E. B.
;
Mancini, Grazia M. S.
;
Cobben, Jan M.
;
Giroth, Cindy
;
Ruivenkamp, Claudia A. L.
;
Hansson, Kerstin B. M.
;
Timmermans, Janneke
;
Moll, Henriette A.
;
Breuning, Martijn H.
;
Pals, Gerard
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2011, 19 (03)
:247-252

Hilhorst-Hofstee, Yvonne
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Hamel, Ben C. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Verheij, Joke B. G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Rijlaarsdam, Marry E. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Dept Pediat Cardiol, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Mancini, Grazia M. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Cobben, Jan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Giroth, Cindy
论文数: 0 引用数: 0
h-index: 0
机构: Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Ruivenkamp, Claudia A. L.
论文数: 0 引用数: 0
h-index: 0
机构: Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Hansson, Kerstin B. M.
论文数: 0 引用数: 0
h-index: 0
机构: Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Timmermans, Janneke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Cardiol, NL-6525 ED Nijmegen, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Moll, Henriette A.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Pediat, Rotterdam, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Breuning, Martijn H.
论文数: 0 引用数: 0
h-index: 0
机构: Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

Pals, Gerard
论文数: 0 引用数: 0
h-index: 0
机构:
Vrije Univ Amsterdam Med Ctr, Ctr Connect Tissue Res, Dept Clin Genet, Amsterdam, Netherlands Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Clin Genet, NL-2300 RC Leiden, Netherlands
[3]
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
[J].
Hung, Chia-Cheng
;
Lin, Shin-Yu
;
Lee, Chien-Nan
;
Cheng, Hui-Yu
;
Lin, Shuan-Pei
;
Chen, Ming-Ren
;
Chen, Chih-Ping
;
Chang, Chien-Hui
;
Lin, Chiou-Ya
;
Yu, Chih-Chieh
;
Chiu, Hsin-Hui
;
Cheng, Wen-Fang
;
Ho, Hong-Nerng
;
Niu, Dau-Ming
;
Su, Yi-Ning
.
ANNALS OF HUMAN GENETICS,
2009, 73
:559-567

Hung, Chia-Cheng
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Lin, Shin-Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
Natl Taiwan Univ, Coll Med, Grad Inst Clin Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Lee, Chien-Nan
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Obstet & Gynecol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Cheng, Hui-Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ, Coll Med, Inst Mol Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Lin, Shuan-Pei
论文数: 0 引用数: 0
h-index: 0
机构:
Mackay Mem Hosp, Dept Pediat, Div Genet & Metab, Taipei, Taiwan
Nursing & Management Coll, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Chen, Ming-Ren
论文数: 0 引用数: 0
h-index: 0
机构:
Nursing & Management Coll, Taipei, Taiwan
Mackay Mem Hosp, Dept Pediat, Div Cardiol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Chen, Chih-Ping
论文数: 0 引用数: 0
h-index: 0
机构:
Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan
Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Chang, Chien-Hui
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ, Coll Med, Inst Mol Med, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Lin, Chiou-Ya
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Yu, Chih-Chieh
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Integrated Diagnost & Therapeut, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Chiu, Hsin-Hui
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10016, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Cheng, Wen-Fang
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ, Coll Med, Grad Inst Clin Med, Taipei 10764, Taiwan
Natl Taiwan Univ Hosp, Dept Obstet & Gynecol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Ho, Hong-Nerng
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Obstet & Gynecol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Niu, Dau-Ming
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

Su, Yi-Ning
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
Natl Taiwan Univ, Coll Med, Grad Inst Clin Med, Taipei 10764, Taiwan
Natl Taiwan Univ, Coll Med, Grad Inst Clin Genom, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
[4]
The revised Ghent nosology for the Marfan syndrome
[J].
Loeys, Bart L.
;
Dietz, Harry C.
;
Braverman, Alan C.
;
Callewaert, Bert L.
;
De Backer, Julie
;
Devereux, Richard B.
;
Hilhorst-Hofstee, Yvonne
;
Jondeau, Guillaume
;
Faivre, Laurence
;
Milewicz, Dianna M.
;
Pyeritz, Reed E.
;
Sponseller, Paul D.
;
Wordsworth, Paul
;
De Paepe, Anne M.
.
JOURNAL OF MEDICAL GENETICS,
2010, 47 (07)
:476-485

Loeys, Bart L.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Dietz, Harry C.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Braverman, Alan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Cardiol, St Louis, MO USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Callewaert, Bert L.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

论文数: 引用数:
h-index:
机构:

Devereux, Richard B.
论文数: 0 引用数: 0
h-index: 0
机构:
Weill Cornell Med Coll, New York, NY USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Hilhorst-Hofstee, Yvonne
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Jondeau, Guillaume
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, Ctr Reference Syndrome Marfan & Apparantes, F-75877 Paris, France Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Faivre, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Ctr Genet, Dijon, France Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Milewicz, Dianna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Med Sch, Dept Med Genet, Houston, TX USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Pyeritz, Reed E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Med Genet, Philadelphia, PA 19104 USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Sponseller, Paul D.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Orthoped, Baltimore, MD USA Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Wordsworth, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Nuffield Orthopead Ctr, Oxford, England Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

De Paepe, Anne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
[5]
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome
[J].
Montgomery, RA
;
Geraghty, MT
;
Bull, E
;
Gelb, BD
;
Johnson, M
;
McIntosh, I
;
Francomano, CA
;
Dietz, HC
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998, 63 (06)
:1703-1711

Montgomery, RA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

Geraghty, MT
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

Bull, E
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

Gelb, BD
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

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

McIntosh, I
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

Francomano, CA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

Dietz, HC
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA
[6]
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
[J].
Sipek, Antonin, Jr.
;
Grodecka, Lucie
;
Baxova, Alice
;
Cibulkova, Petra
;
Dvorakova, Magdalena
;
Mazurova, Stella
;
Magner, Martin
;
Zeman, Jiri
;
Honzik, Tomas
;
Freiberger, Tomas
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (06)
:1559-1564

Sipek, Antonin, Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Grodecka, Lucie
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Cardiovasc Surg & Transplantat, Mol Genet Lab, CZ-60300 Brno, Czech Republic
Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Baxova, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Cibulkova, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
AGEL Labs, Novy Jicin Branch, AGEL Res & Training Inst, Novy Jicin, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Dvorakova, Magdalena
论文数: 0 引用数: 0
h-index: 0
机构:
AGEL Labs, Novy Jicin Branch, AGEL Res & Training Inst, Novy Jicin, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Mazurova, Stella
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

论文数: 引用数:
h-index:
机构:

Zeman, Jiri
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Honzik, Tomas
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic
Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic

Freiberger, Tomas
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Cardiovasc Surg & Transplantat, Mol Genet Lab, CZ-60300 Brno, Czech Republic
Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic