Terminal monosomy 1p36

被引:0
|
作者
Rehage, N.
Oehl-Jaschkowitz, B.
Gartner, L.
Shamdeen, M. G.
机构
[1] Univ Klinikum, Klin Allgemeine Paediat & Neonatol, Homburg, Germany
[2] Gemeinschaftpraxis Humangenet, Homburg, Germany
来源
KLINISCHE PADIATRIE | 2007年 / 219卷 / 02期
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:119 / 119
页数:1
相关论文
共 50 条
  • [31] Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions
    Blake C. Ballif
    Marzena Gajecka
    Lisa G. Shaffer
    Chromosome Research, 2004, 12 : 133 - 141
  • [32] Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia
    D'Angelo, Carla S.
    Kohl, Ilana
    Varela, Monica Castro
    de Castro, Claudia I. E.
    Kim, Chong A.
    Bertola, Debora R.
    Lourenco, Charles M.
    Koiffmann, Celia P.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (01) : 102 - 110
  • [33] Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype
    Rodriguez, V. R.
    Mazzucato, L. F.
    Pina-Neto, J. M.
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2008, 41 (08) : 681 - 683
  • [34] Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion
    Rankin, Julia
    Allwood, Alex
    Canham, Natalie
    Delmege, Catherine
    Crolla, John
    Maloney, Viv
    CLINICAL DYSMORPHOLOGY, 2009, 18 (04) : 222 - 224
  • [35] Clinical and pathologic characterization of epilepsy in patients with monosomy 1p36, and the search for candidate genes.
    Shapira, SK
    Heilstedt, HA
    Starkey, DE
    Burgess, DL
    Chedrawi, AK
    Anderson, AE
    Tharp, B
    Carrol, CL
    Armstrong, D
    Wu, YQ
    Noebels, JL
    Shaffer, LG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A107 - A107
  • [36] TERMINAL DELETIONS OF BAND 1P36 - EMERGENCE OF 2 OVERLAPPING PHENOTYPES
    WARGOWSKI, D
    SEKHON, G
    LAXOVA, R
    THOMPSON, K
    KENT, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 278 - 278
  • [37] Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation
    Hussen, Dalia F.
    Kamel, Alaa K.
    Mekkawy, Mona K.
    Ashaat, Engy A.
    El Ruby, Mona O.
    MOLECULAR SYNDROMOLOGY, 2020, 11 (5-6) : 284 - 295
  • [38] 1p36 microdeletion syndrome
    Ortigosa Gomez, S.
    Seidel Padilla, V.
    Cusco, I.
    Aznar Lain, G.
    ANALES DE PEDIATRIA, 2011, 74 (03): : 197 - 199
  • [39] Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    Ballif, BC
    Yu, W
    Shaw, CA
    Kashork, CD
    Shaffer, LG
    HUMAN MOLECULAR GENETICS, 2003, 12 (17) : 2153 - 2165
  • [40] Cytogenetic and clinical presentation of 13 new patients with monosomy 1p36: phenotype-genotype correlations
    Mabboux, P.
    Pipiras, E.
    Dupont, C.
    Heron, D.
    Vincent-Delorme, C.
    Burglen, L.
    Baurnann, C.
    Alembik, Y.
    Layet V, V.
    Sauvion, S.
    Drouin-Guarraud, V.
    Benzacken, B.
    CHROMOSOME RESEARCH, 2005, 13 : 215 - 215