A familial duplication of 22q11.2 including the TUPLE1 locus

被引：0
|
作者：
Curtis, Christine A.
Ward, Catherine
机构：
[1] Case Western Reserve Univ, Univ Hosp Cleveland, Ctr Human Genet Lab, Cleveland, OH 44106 USA
[2] Childrens Hosp, Med Ctr, Dept Genet, Akron, OH 44308 USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2007年 / 116卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [1] Familial 22q11.2 duplication: the mild and the severe
    Josifova, Dragana
    Josifova, D. J.
    Ruddy, D.
    Warburton, P.
    Bint, S.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 : S53 - S53
  • [2] 22q11.2 duplication syndrome
    Denny, J.
    Valiallah, N.
    Natkunarajah, J.
    BRITISH JOURNAL OF DERMATOLOGY, 2018, 179 : 84 - 84
  • [3] Familial deletion of 22q11.2
    Criado, GR
    Gruesomontero, J
    Navarro, AD
    GENETIC COUNSELING, 1999, 10 (03): : 325 - 327
  • [4] Immunodeficiency in 22q11.2 duplication syndrome
    Sun, Di
    Lee, Juhee
    Heimall, Jennifer
    Jyonouchi, Soma
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2021, 9 (02): : 996 - +
  • [5] A familial interstitial duplication of 22q11.2 with distinct craniofacial and digital anomalies
    Hassed, SJ
    Hopcus-Niccum, D
    Zhang, L
    Li, S
    Mulvihill, JJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 297 - 297
  • [6] Concurrent microdeletion and duplication of 22q11.2
    Blennow, E.
    Lagerstedt, K.
    Malmgren, H.
    Sahlen, S.
    Schoumans, J.
    Anderlid, B. M.
    CLINICAL GENETICS, 2008, 74 (01) : 61 - 67
  • [7] Autistic disorder and 22q11.2 duplication
    Mukaddes, Nahit Motavalli
    Herguner, Sabri
    WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY, 2007, 8 (02): : 127 - 130
  • [8] Characterisation of familial deletions in 22q11.2
    Trost, D
    Uhlhaas, S
    Schwanitz, G
    CYTOGENETICS AND CELL GENETICS, 1998, 81 (02): : 158 - 158
  • [9] Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes
    Fernandez, Luis
    Nevado, Julian
    De Torres, Maria L.
    Mansilla, Elena
    Vallespin, Elena
    Garcia-Minaur, Sixto
    Palomo, Rebeca
    Deiros, Lucia
    Cabrera, Marta
    Dina Galo, Elia
    Lapunzina, Pablo
    Delicado, Alicia
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) : 2963 - 2968
  • [10] 22q11.2 Duplication and Congenital Heart Defects
    Machado Rosa, Rafael Fabiano
    Gazzola Zen, Paulo Ricardo
    Ricachinevsky, Claudia Pires
    Pilla, Carlo Benatti
    Berenstein Pereira, Vera Lucia
    Roman, Tatiana
    Varella-Garcia, Marilela
    Paskulin, Giorgio Adriano
    ARQUIVOS BRASILEIROS DE CARDIOLOGIA, 2009, 93 (04) : E67 - E69
12345