The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

Cytogenetic and Genome Research

Volumn 99, Issue 1-4, 2002, Pages 276-284

  Kubota, T ^a,c,k   Wakui, K ^a,b   Nakamura, T ^d   Ohashi, H ^e   Watanabe, Y ^f   Yoshino, M ^f   Kida, T ^g   Okamoto, N ^h   Matsumura, M ^c   Muroya, K ⁱ   Ogata, T ^j   Goto, Y ^c   Fukushima, Y ^a,b  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d LSI MEDIENCE CORPORATION   (Japan)

^e SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^f KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g HAKODATE CENTRAL GENERAL HOSPITAL   (Japan)

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

ⁱ TOKYO DENTAL COLLEGE   (Japan)

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

^k UNIVERSITY OF YAMANASHI   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BIRTH WEIGHT; BLOOD SAMPLING; BRAIN CELL; CASE REPORT; CHROMOSOME INACTIVATION; CLINICAL FEATURE; DEVELOPMENT; DISEASE ASSOCIATION; DISEASE SEVERITY; DISOMY; DNA METHYLATION; FACIES; FEMALE; GENETIC ASSOCIATION; GESTATIONAL AGE; HUMAN; HYPERTELORISM; LABORATORY TEST; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; QUADRIPLEGIA; RECURRENT INFECTION; RETROGNATHIA; SHORT NOSE; TURNER SYNDROME; UNIPARENTAL DISOMY;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DNA METHYLATION; DOSAGE COMPENSATION, GENETIC; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION, X-LINKED; MOSAICISM; PROMOTER REGIONS (GENETICS); RING CHROMOSOMES; RNA, UNTRANSLATED; SEVERITY OF ILLNESS INDEX; SEX CHROMOSOME ABERRATIONS; TURNER SYNDROME;

EID: 10744230718     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071604     Document Type: Article

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