Art

J-GLOBAL ID：200902243916473259   Reference number：08A1254722

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1q21.1の反復性で相反する欠失と重複は小頭症あるいは大頭症および発達異常や行動障害に関連する

Author (40)： BRUNETTI-PIERRI Nicola (Baylor Coll. of Medicine, Texas, USA) ,  BERG Jonathan S (Baylor Coll. of Medicine, Texas, USA) ,  SCAGLIA Fernando (Baylor Coll. of Medicine, Texas, USA) ,  SCAGLIA Fernando (Texas Children’s Hospital, Texas, USA) ,  BELMONT John (Baylor Coll. of Medicine, Texas, USA) ,  BACINO Carlos A (Baylor Coll. of Medicine, Texas, USA) ,  BACINO Carlos A (Texas Children’s Hospital, Texas, USA) ,  SAHOO Trilochan (Baylor Coll. of Medicine, Texas, USA) ,  LALANI Seema R (Baylor Coll. of Medicine, Texas, USA) ,  GRAHAM Brett (Baylor Coll. of Medicine, Texas, USA) ,  LEE Brendan (Baylor Coll. of Medicine, Texas, USA) ,  SHINAWI Marwan (Baylor Coll. of Medicine, Texas, USA) ,  SHEN Joseph (Baylor Coll. of Medicine, Texas, USA) ,  KANG Sung-Hae L (Baylor Coll. of Medicine, Texas, USA) ,  PURSLEY Amber (Baylor Coll. of Medicine, Texas, USA) ,  LOTZE Timothy (Texas Children’s Hospital, Texas, USA) ,  KENNEDY Gail (Carle Clinic, Illinois, USA) ,  KENNEDY Gail (Univ. Illinois Coll. of Medicine, Illinois, USA) ,  LANSKY-SHAFER Susan (Carle Clinic, Illinois, USA) ,  LANSKY-SHAFER Susan (Univ. Illinois Coll. of Medicine, Illinois, USA) ,  WEAVER Christine (Carle Clinic, Illinois, USA) ,  WEAVER Christine (Univ. Illinois Coll. of Medicine, Illinois, USA) ,  ROEDER Elizabeth R (Univ. Texas Health Sci. Center at San Antonio, Texas, USA) ,  GREBE Theresa A (St. Joseph’s Hospital and Medical Center, Arizona, USA) ,  ARNOLD Georgianne L (Univ. Rochester School of Medicine and Dentistry, New York, USA) ,  HUTCHISON Terry (Univ. California San Francisco, California, USA) ,  REIMSCHISEL Tyler (Washington Univ. School of Medicine, Missouri, USA) ,  AMATO Stephen (Eastern Maine Medical Center, Maine, USA) ,  GERAGTHY Michael T (Children’s Hospital of Eastern Ontario, Ontario, CAN) ,  INNIS Jeffrey W (Univ. Michigan, Michigan, USA) ,  OBERSZTYN Ewa (Inst. of Mother and Child, Warsaw, POL) ,  NOWAKOWSKA Beata (Inst. of Mother and Child, Warsaw, POL) ,  ROSENGREN Sally S (Univ. Connecticut School of Medicine, Connecticut, USA) ,  BADER Patricia I (Parkview Hospital, Indiana, USA) ,  GRANGE Dorothy K (Washington Univ. School of Medicine, Missouri, USA) ,  NAQVI Sayed (Miami Children’s Hospital, Florida, USA) ,  GARNICA Adolfo D (Oklahoma State Univ., Oklahoma, USA) ,  BERNES Saunder M (Phoenix Children’s Hospital, Arizona, USA) ,  FONG Chin-To (Univ. Rochester School of Medicine and Dentistry, New York, USA) ,  SUMMERS Anne (North York General Hospital, Ontario, CAN)
Material： Nature Genetics  (Nat Genet)
Volume： 40  Issue： 12  Page： 1466-1471  Publication year： Dec. 2008 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： autosome ,  copy number ,  human(primates) ,  *chromosomal aberration ,  repetitive sequence ,  nucleotide sequence ,  gene duplication ,  deletion mutation ,  microcephaly ,  *gene
Semi thesaurus term： *HYDIN遺伝子 ,  chromosome 1 ,  macrocephalia ,  発達障害

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (5)： 欠失 ,  小頭症 ,  大頭症 ,  発達 ,  行動障害