Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 857-865

  Ramocki, Melissa B ^a,b   Bartnik, Magdalena ^c   Szafranski, Przemyslaw ^a   Kołodziejska, Katarzyna E ^a   Xia, Zhilian ^a   Bravo, Jaclyn ^a   Miller, G Steve ^d,e   Rodriguez, Diana L ^a,b   Williams, Charles A ^f   Bader, Patricia I ^g   Szczepanik, Elbieta ^c   Mazurczak, Tomasz ^c   Antczak Marach, Dorota ^c   Coldwell, James G ^d   Akman, Cigdem I ^a,b   McAlmon, Karen ^h,i,j   Cohen, Melinda P ^k   McGrath, James ^l   Roeder, Elizabeth ^m   Mueller, Jennifer ^f   Kang, Sung Hae L ^a   Bacino, Carlos A ^a   Patel, Ankita ^a   Bocian, Ewa ^c   Shaw, Chad A ^a   Cheung, Sau Wai ^a   Mazurczak, Tadeusz ^c   Stankiewicz, Paweł ^a,c   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c INSTITUTE OF MOTHER AND CHILD   (Poland)

^d Children's Medical Center   (United States)

^e UNIVERSITY OF OKLAHOMA   (United States)

^f UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^g Northeast Indiana Genetic Counseling Center   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j Winchester Hospital   (United States)

^k VANDERBILT UNIVERSITY   (United States)

^l YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE RECEPTOR; HUNTINGTIN; HUNTINGTIN INTERACTING PROTEIN 1; TRYPTOPHAN HYDROXYLASE; TYROSINE 3 MONOOXYGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ARTICLE; ATAXIA; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL ARTICLE; COGNITIVE DEFECT; COPY NUMBER VARIATION; ENZYME ACTIVATION; EPILEPSY; FEMALE; GENE DUPLICATION; GENE IDENTIFICATION; GENERALIZED EPILEPSY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MIXED SEIZURE; MOUSE; NERVE CELL DIFFERENTIATION; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; TREMOR; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; HUMANS; INFANT; MALE; MENTAL DISORDERS; MENTAL RETARDATION; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA;

MUS;

EID: 78649786568     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.019     Document Type: Article

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