Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 528-540

  Wakui, Keiko ^a   Gregato, Guiliana ^b,c   Ballif, Blake C ^b   Glotzbach, Caron D ^b,d   Bailey, Kristen A ^b,d   Kuo, Pao Lin ^e   Sue, Whui Chen ^f   Sheffield, Leslie J ^g   Irons, Mira ^h   Gomez, Enrique G ⁱ   Hecht, Jacqueline T ^j   Potocki, Lorraine ^a,k   Shaffer, Lisa G ^b,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d SACRED HEART MEDICAL CENTER   (United States)

^e NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^f Taipei Munic Women/Children Hosp   (Taiwan)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ HOSPITAL INFANTA CRISTINA   (Spain)

^j UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^k TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

Deletion 11p; Multiple exostoses; Natural panel; Parietal foramina; Potocki Shaffer syndrome

Indexed keywords

ARTICLE; CELL LINE; CHILD; CHROMOSOME 11P; CHROMOSOME ARM; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENE MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER SYSTEM; CONTROLLED STUDY; DATA BASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; POTOCKI SHAFFER SYNDROME; PRIORITY JOURNAL; SKULL DISEASE; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; CELL LINE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL DYSOSTOSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENE DELETION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PARIETAL BONE; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; SYNDROME;

EID: 21044454700     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201366     Document Type: Article

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