Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Human Genetics

Volumn 135, Issue 2, 2016, Pages 209-222

  Yaoita, Masako ^a   Niihori, Tetsuya ^a   Mizuno, Seiji ^b   Okamoto, Nobuhiko ^c   Hayashi, Shion ^d   Watanabe, Atsushi ^e   Yokozawa, Masato ^f   Suzumura, Hiroshi ^g   Nakahara, Akihiko ^h   Nakano, Yusuke ⁱ   Hokosaki, Tatsunori ^j   Ohmori, Ayumi ^k   Sawada, Hirofumi ^k   Migita, Ohsuke ^l   Mima, Aya ^m   Lapunzina, Pablo ⁿ   Santos Simarro, Fernando ⁿ   García Miñaúr, Sixto ⁿ   Ogata, Tsutomu ^o   Kawame, Hiroshi ^p   Kurosawa, Kenji ^q   Ohashi, Hirofumi ^r   Inoue, Shin ichi ^a   Matsubara, Yoichi ^s   Kure, Shigeo ^a   Aoki, Yoko ^a   more..

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

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

^d JIKEI UNIVERSITY HOSPITAL   (Japan)

^e NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

^f HOKKAIDO MEDICAL CENTER   (Japan)

^g DOKKYO MEDICAL UNIVERSITY   (Japan)

^h UNIVERSITY OF MIYAZAKI   (Japan)

ⁱ NAGANO CHILDREN'S HOSPITAL   (Japan)

^j YOKOHAMA CITY UNIVERSITY HOSPITAL   (Japan)

^k MIE UNIVERSITY   (Japan)

^l ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^m YODOGAWA CHRISTIAN HOSPITAL   (Japan)

ⁿ HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^o HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^p TOHOKU UNIVERSITY   (Japan)

^q KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^r SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; TRANSCRIPTION FACTOR ELK 1; KRAS PROTEIN, HUMAN; PROTEIN P21; PTPN11 PROTEIN, HUMAN; RAS PROTEIN; RIT1 PROTEIN, HUMAN; SOS PROTEIN;

3T3 CELL LINE; ARTICLE; CHILD; CHYLOTHORAX; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FEMALE; FETUS HYDROPS; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LUCIFERASE ASSAY; MALE; MUTATIONAL ANALYSIS; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PLEURA EFFUSION; PRIORITY JOURNAL; PTOSIS; PULMONARY VALVE STENOSIS; RAF1 GENE; RIT1 GENE; SHORT STATURE; SITE DIRECTED MUTAGENESIS; SOS1 GENE; TRANSCRIPTION INITIATION; EXON; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; METABOLISM; MUTATION; NEWBORN; PRESCHOOL CHILD; PROCEDURES;

CHILD, PRESCHOOL; CHYLOTHORAX; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; HYDROPS FETALIS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PLEURAL EFFUSION; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS P21(RAS); RAS PROTEINS; SOS1 PROTEIN;

EID: 84954380452     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1627-5     Document Type: Article

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