Confirmation of IBD5 in a German population and exploration of genotype-phenotype interactions

被引:0
|
作者
Giallourakis, C
Stoll, M
Hampe, J
Miller, K
Daly, M
Schreiber, S
Rioux, J
机构
关键词
D O I
10.1016/S0016-5085(03)80241-X
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:A49 / A49
页数:1
相关论文
共 50 条
  • [41] Mutation spectra and genotype-phenotype analysis of congenital hypothyroidism in a neonatal population
    Huang, Xiang
    Shao, Qiaoyi
    Weng, Shi
    Chen, Wenfang
    Yuan, Weixi
    Tan, Jiayu
    Yang, Xuexi
    Su, Xi
    BIOMEDICAL REPORTS, 2025, 22 (02)
  • [42] From Vienna to Montreal: The impact of changes in IBD classification on CARD15 genotype-phenotype relationships in a population-based cohort
    Gearry, Richard B.
    Roberts, Rebecca L.
    Frampton, Christopher M.
    Burt, Michael J.
    Collett, Judith A.
    Chapman, Bruce A.
    Allington, Melanie D.
    Kennedy, Martin A.
    Barclay, Murray L.
    GASTROENTEROLOGY, 2006, 130 (04) : A586 - A586
  • [43] From Vienna to Montreal: the impact of changes in IBD classification on CARD15 genotype-phenotype relationships in a population-based cohort
    Gearry, R. B.
    Roberts, R. L.
    Frampton, C. M.
    Burt, M. J.
    Collett, J. A.
    Chapman, B. A.
    Allington, M. D.
    Kennedy, M. A.
    Barclay, M. L.
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2006, 21 : A271 - A271
  • [44] Genotype-phenotype correlations in a German adPEO family carrying three mutations in POLG
    Klopstock, T
    Jaksch, M
    Horvath, R
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 57 - 57
  • [45] Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure
    Draganski, B.
    Schneider, S. A.
    Fiorio, M.
    Kloeppel, S.
    Gambarin, M.
    Tinazzi, M.
    Ashburner, J.
    Bhatia, K. P.
    Frackowiak, R. S. J.
    NEUROIMAGE, 2009, 47 (04) : 1141 - 1147
  • [46] Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships
    Bahi-Buisson, Nadia
    Villeneuve, Nathalie
    Caietta, Emilie
    Jacquette, Aurelia
    Maurey, Helene
    Matthijs, Gert
    Van Esch, Hilde
    Delahaye, Andree
    Moncla, Anne
    Milh, Mathieu
    Zufferey, Flore
    Diebold, Bertrand
    Bienvenu, Thierry
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) : 1612 - 1619
  • [47] Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis
    Kondoh, T
    Shimokawa, O
    Harada, N
    Doi, T
    Yun, C
    Gohda, Y
    Fumiko, K
    Matsumoto, T
    Moriuchi, H
    JOURNAL OF HUMAN GENETICS, 2005, 50 (01) : 26 - 29
  • [48] Genotype-phenotype correlation in ADCY5-related movement disorders
    Macias Garcia, D.
    Adarmes Gomez, A. D.
    Jesus Maestre, S.
    Mendez Del Barrio, C.
    Vargas Gonzalez, L.
    Carrillo Garcia, F.
    Carballo Cordero, M.
    Gomez Garre, P.
    Mir Rivera, P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 425 - 425
  • [49] Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation
    Palsson, R
    Jonasson, JG
    Kristjansson, M
    Bodvarsson, A
    Goldin, RD
    Cox, DW
    Olafsson, S
    EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2001, 13 (04) : 433 - 436
  • [50] Genotype-phenotype correlations of KIF5A stalk domain variants
    de Boer, Eva M. J.
    van Rheenen, Wouter
    Goedee, H. Stephan
    Kamsteeg, Erik-Jan
    Brilstra, Eva H.
    Veldink, Jan H.
    van den Berg, Leonard H.
    van Es, Michael A.
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2021, 22 (7-8) : 561 - 570