Fifty Microdeletions Among 112 Cases of Sotos Syndrome: Low Copy Repeats Possibly Mediate the Common Deletion

Human Mutation

Volumn 22, Issue 5, 2003, Pages 378-387

  Kurotaki, Naohiro ^a,b   Harada, Naoki ^a,b,c   Shimokawa, Osamu ^c   Miyake, Noriko ^a,b,g   Kawame, Hiroshi ^d   Uetake, Kimiaki ^e   Makita, Yoshio ^f   Kondoh, Tatsuro ^g   Ogata, Tsutomu ^h   Hasegawa, Tomoko ⁱ   Nagai, Toshiro ^j   Ozaki, Takao ^k   Touyama, Mayumi ^l   Shenhav, Ruthie ^m   Ohashi, Hirofumi ⁿ   Medne, Livija ^o   Shiihara, Takashi ^p   Ohtsu, Shigeyuki ^q   Kato, Zen Ichiro ^r   Okamoto, Nobuhiko ^s   Nishimoto, Junji ^t   Lev, Dorit ^u   Miyoshi, Yoko ^v   Ishikiriyama, Satoshi ^w   Sonoda, Tohru ^x   Sakazume, Satoru ^y   Fukushima, Yoshimitsu ^y   Kurosawa, Kenji ^z   Cheng, Jan Fang ^aa   Yoshiura, Koh Ichiro ^a,b   Ohta, Tohru ^a,b   Kishino, Tatsuya ^a,b   Niikawa, Norio ^a,b   Matsumoto, Naomichi ^a,b   more..

^a NAGASAKI UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d NAGANO CHILDREN'S HOSPITAL   (Japan)

^e Obihiro Kohsei Hospital   (Japan)

^f ASAHIKAWA MEDICAL COLLEGE   (Japan)

^g NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

ⁱ SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^j DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k Kohseiren Showa Hospital   (Japan)

^l JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^m RABIN MEDICAL CENTER   (Israel)

ⁿ SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^p YAMAGATA UNIVERSITY   (Japan)

^q KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

^t Kinki Central Hospital of Mutual Association of Public School Teachers   (Japan)

^u WOLFSON MEDICAL CENTER   (Israel)

^v OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^w CHIBA CHILDREN'S HOSPITAL   (Japan)

^x UNIVERSITY OF MIYAZAKI   (Japan)

^y SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^z KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^aa LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

more..

Author keywords

Low copy repeat; Microdeletion; NSD1; SoS; Sotos syndrome

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 5Q; CHROMOSOME DELETION; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOTOS SYNDROME;

CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GIGANTISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MENTAL RETARDATION; NUCLEAR PROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION; SYNDROME;

EID: 10744221892     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10270     Document Type: Article

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