The phenotypic spectrum of malformation caused by mutations in the human TBX5 gene and evidence for genotype-phenotype correlation.

被引：0
|
作者：
Newbury-Ecob, RA
Cross, SJ
Ching, YH
Yi, CH
Armstrong-Buisseret, L
Li, QY
Brook, JD
机构：
[1] Bristol Royal Hosp Sick Child, Inst Child Hlth, Bristol, Avon, England
[2] Univ Nottingham, Dept Mol Genet, Nottingham NG7 2RD, England
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04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：
260
引用
收藏
页码：A50 / A50
页数：1
相关论文
共 50 条
  • [1] Infantile Alexander Disease: spectrum of GFAP mutations and genotype-phenotype correlation.
    Boespflug-Tanguy, O
    Rodriguez, D
    Gauthier, F
    Bertini, E
    Uziel, G
    Surtees, R
    N'Guyen, S
    Goizet, C
    Gelot, A
    Pedespan, JM
    Troncosco, M
    Brenner, M
    Meesing, A
    Ponsot, G
    Dinh, DP
    Dautigny, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 596 - 596
  • [2] Evidence for genotype-phenotype correlation for OTOF mutations
    Yildirim-Baylan, Muzeyyen
    Bademci, Guney
    Duman, Duygu
    Ozturkmen-Akay, Hatice
    Tokgoz-Yilmaz, Suna
    Tekin, Mustafa
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2014, 78 (06) : 950 - 953
  • [3] Ancient mutations in the FMF gene: Carrier frequency in different ethnic groups in Israel and genotype-phenotype correlation.
    Gershoni-Baruch, R
    Shinawi, M
    Kasinetz, L
    Brick, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 413 - 413
  • [4] Genotype-phenotype correlation in malformations caused by mutations in the p63 gene.
    Ianakiev, P
    Kilpatrick, MW
    Toudjarska, I
    Basel, D
    Beighton, P
    Tsipouras, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 66 - 66
  • [5] Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation.
    De Baere, E
    Dixon, M
    Small, K
    Jabs, E
    Leroy, B
    Devriendt, K
    Gillerot, Y
    Mortier, G
    Meire, F
    Van Maldergem, L
    Hjalgrim, H
    Huang, S
    Liebaers, I
    De Paepe, A
    Felious, M
    Veitia, R
    Messiaen, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 621 - 621
  • [6] Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation
    Cretolle, C.
    Pelet, A.
    Sanlaville, D.
    Zerah, A.
    Amiel, J.
    Jaubert, E.
    Revillon, Y.
    Baala, L.
    Munnich, A.
    Nihou-Fekete, C.
    Lyonnet, S.
    HUMAN MUTATION, 2008, 29 (07) : 903 - 910
  • [7] PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Tartaglia, M
    Kalidas, K
    Shaw, A
    Song, XL
    Musat, DL
    van der Burgt, I
    Brunner, HG
    Bertola, DR
    Crosby, A
    Ion, A
    Kucherlapati, RS
    Jeffery, S
    Patton, MA
    Gelb, BD
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) : 1555 - 1563
  • [8] Cardiomyopathies due to mutations in the myopalladin gene: Genotype-phenotype correlation
    Purevjav, Enkhsaikhan
    Arimura, Takuro
    Augustin, Sibylle
    Nunoda, Shinichi
    Varela, Jaquelin
    Kearney, Debra L.
    McKenna, William
    Ackerman, Michael J.
    Kimura, Akinori
    Towbin, Jeffrey A.
    PROGRESS IN PEDIATRIC CARDIOLOGY, 2011, 31 (02) : 139 - +
  • [9] Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis
    Huang, Jiannan
    Xu, Wenshuai
    Liu, Peng
    Liu, Yaping
    Shen, Cheng
    Liu, Song
    Wang, Yani
    Wang, Jun
    Zhang, Tengyue
    He, Yudi
    Cheng, Chongsheng
    Yang, Luning
    Zhang, Weihong
    Tian, Xinlun
    Xu, Kai-Feng
    BMC PULMONARY MEDICINE, 2022, 22 (01)
  • [10] BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
    Oz, Ozlem
    Karaca, Meryem
    Atas, Nurgul
    Gonel, Ataman
    Ercan, Mujgan
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2021, 31 (07): : 780 - 785
12345