Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis

Endocrine Journal

Volumn 58, Issue 3, 2011, Pages 155-159

  Dateki, Sumito ^a,b   Fukami, Maki ^a   Tanaka, Yoko ^c   Sasaki, Goro ^c   Moriuchi, Hiroyuki ^b   Ogata, Tsutomu ^a  

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

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

^c TOKYO DENTAL COLLEGE   (Japan)

Author keywords

15q deletion; Congenital heart defect; IGF1R; Telomere

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

15Q26 TERMINAL DELETION; ADOLESCENT; ARTICLE; BONE AGE; CASE REPORT; CHILD; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE BLOOD LEVEL; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; INSULIN LIKE GROWTH FACTOR 1 BLOOD LEVEL; INSULIN LIKE GROWTH FACTOR 1 GENE; INSULIN LIKE GROWTH FACTOR 1 RECEPTOR GENE; LEARNING DISORDER; LONG TERMINAL REPEAT; MENARCHE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; NUCLEAR SUBFAMILY GROUP F MEMBER 2 GENE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; SEXUAL DEVELOPMENT; SHORT STATURE; TELOMERE;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; GENETIC ASSOCIATION STUDIES; GROWTH DISORDERS; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; MENTAL RETARDATION; RECEPTOR, IGF TYPE 1; TELOMERE;

EID: 79953324185     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K10E-251     Document Type: Article

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