A novel genomic rearrangement of 7q11.23 in multiple unrelated families with Williams-Beuren syndrome.

被引：0
|
作者：
Osborne, L
Haddad, M
Schachow, M
Li, M
Skaug, J
Lokkesmoe, R
Gripp, KW
Thompson, E
Perez-Jurado, L
Scherer, SW
机构：
[1] Univ Toronto, Toronto, ON, Canada
[2] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[3] Kingston Gen Hosp, Kingston, ON K7L 2V7, Canada
[4] Womens & Childrens Hosp, Clin Genet Serv, N Adelaide, SA, Australia
[5] DuPont Hosp Children, Wilmington, DE USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
631
引用
收藏
页码：277 / 277
页数：1
相关论文
共 50 条
  • [41] GTF2I regulates social behavior by promoting neuronal maturation: implications for Williams-Beuren and 7q11.23 microduplication syndromes
    Tobon, A. Lopez
    Shyti, R.
    Villa, E.
    Caporale, N.
    Trattaro, S.
    Cheroni, C.
    Troglio, F.
    de la Cruz, B. Marco
    Gabriele, M.
    Malerba, N.
    Kooy, F.
    Merla, G.
    Testa, G.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 752 - 753
  • [42] Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
    Kuebler, B.
    Aran, B.
    Flores, R.
    Perez-Jurado, L. A.
    Veiga, A.
    Corominas, R.
    Cusco, I
    STEM CELL RESEARCH, 2020, 49
  • [43] No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
    Judith Frohnauer
    Almuth Caliebe
    Stefan Gesk
    Carl-Joachim Partsch
    Reiner Siebert
    Rainer Pankau
    Jutta Jenderny
    Molecular Cytogenetics, 3
  • [44] No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
    Frohnauer, Judith
    Caliebe, Almuth
    Gesk, Stefan
    Partsch, Carl-Joachim
    Siebert, Reiner
    Pankau, Rainer
    Jenderny, Jutta
    MOLECULAR CYTOGENETICS, 2010, 3
  • [45] Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior
    Dutra, Roberta L.
    Piazzon, Flavia B.
    Zanardo, Evelin A.
    Moura Machado Costa, Thais Virginia
    Montenegro, Marilia M.
    Novo-Filho, Gil M.
    Dias, Alexandre T.
    Nascimento, Amom M.
    Kim, Chong Ae
    Kulikowski, Leslie D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) : 3197 - 3203
  • [46] Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome
    Wouters, CH
    Meijers-Heijboer, HJ
    Eussen, BJFMM
    van der Heide, AA
    van Luijk, RB
    van Drunen, E
    Beverloo, BB
    Visscher, F
    Van Hemel, JO
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (03): : 261 - 265
  • [47] 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
    Urban, Z
    Helms, C
    Fekete, G
    Csiszar, K
    Bonnet, D
    Munnich, A
    DonisKeller, H
    Boyd, CD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (04) : 958 - 962
  • [48] Empathy in Williams Syndrome: Clues from Typical and Atypical Deletion of 7q11.23
    Ng, Rowena
    Fillet, Patricia
    Bellugi, Ursula
    ADVANCES IN NEURODEVELOPMENTAL DISORDERS, 2020, 4 (01) : 97 - 101
  • [49] PHYSICAL MAPPING OF THE 7Q11.23 REGION AND ANALYSIS OF PATIENTS WITH WILLIAMS-SYNDROME
    OSBORNE, LR
    SCHERER, SW
    SHI, XM
    HENG, HHO
    COSTA, T
    POBER, B
    TSUI, LC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1549 - 1549
  • [50] Empathy in Williams Syndrome: Clues from Typical and Atypical Deletion of 7q11.23
    Rowena Ng
    Patricia Fillet
    Ursula Bellugi
    Advances in Neurodevelopmental Disorders, 2020, 4 : 97 - 101
12345