Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

American Journal of Medical Genetics, Part A

Volumn 140, Issue 16, 2006, Pages 1719-1725

  Sakai, Haruya ^a   Visser, Remco ^a   Ikegawa, Shiro ^b   Ito, Etsuro ^c   Numabe, Hironao ^d   Watanabe, Yoriko ^e   Mikami, Haruo ^f   Kondoh, Tatsuro ^g   Kitoh, Hiroshi ^h   Sugiyama, Ryusuke ⁱ   Okamoto, Nobuhiko ^j   Ogata, Tsutomu ^k   Fodde, Riccardo ^l   Mizuno, Seiji ^m   Takamura, Kyoko ⁿ   Egashira, Masayuki ^o   Sasaki, Nozomu ^p   Watanabe, Sachiro ^q   Nishimaki, Shigeru ^a   Takada, Fumio ^r   Nagai, Toshiro ^s   Okada, Yasushi ^t   Aoka, Yoshikazu ^u   Yasuda, Kazushi ^v   Iwasa, Mitsuji ^w   Kogaki, Shigetoyo ^x   Harada, Naoki ^y   Mizuguchi, Takeshi ^a,z   Matsumoto, Naomichi ^a,z   more..

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RIKEN   (Japan)

^c HIROSAKI UNIVERSITY   (Japan)

^d TOKYO MEDICAL UNIVERSITY   (Japan)

^e Kurume University Graduate School of Medicine Kurume University Graduate School of Medicine Graduate School Biostatistics   (Japan)

^f KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^g NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^h NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ Shizuoka Municipal Shimizu Hospital   (Japan)

^j RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^k NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^l JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^m INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

ⁿ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^o NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^p SAITAMA MEDICAL UNIVERSITY   (Japan)

^q GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

^r KITASATO UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^s DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^t Kin ikyo Sapporo Hospital   (Japan)

^u TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^v TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^w NAGOYA DAINI RED CROSS HOSPITAL   (Japan)

^x OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^y Kyushu Medical Science Nagasaki Laboratory   (Japan)

^z JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

more..

Author keywords

FBN1; FBN2; Marfan syndrome; TGFBR1; TGFBR2

Indexed keywords

DNA; FIBRILLIN 1; FIBRILLIN 2; GLYCOPROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADOLESCENT; ADULT; AORTA ANEURYSM; AORTA DISSECTION; ARACHNODACTYLY; ARTICLE; CAMPTODACTYLY; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DOLICHOSTENOMELIA; ECTOPIA LENTIS; FBN1 GENE; FBN2 GENE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCEPHALUS; HYPERTELORISM; JOINT LAXITY; LOEYS DIETZ SYNDROME; MALE; MARFAN SYNDROME; PATENT DUCTUS ARTERIOSUS; PES EQUINOVARUS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; TGFBR1 GENE; TGFBR2 GENE;

ACTIVIN RECEPTORS, TYPE I; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 33746590708     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31353     Document Type: Article

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