Cascade screening outcome in a nationwide cohort and genotype-phenotype relationship

被引:0
|
作者
Effraimidis, Grigorios [1 ]
Rasmussen, Ase Krogh [1 ]
Hasholt, Lis Frydenreich [2 ]
Duno, Morten [1 ]
Wibrand, Flemming [1 ]
Feldt-Rasmussen, Ulla [1 ]
机构
[1] Copenhagen Univ Hosp, Rigshosp, Copenhagen, Denmark
[2] Univ Copenhagen, Panum Inst, Copenhagen, Denmark
关键词
D O I
10.1016/j.ymgme.2019.11.116
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
107
引用
收藏
页码:S52 / S52
页数:1
相关论文
共 50 条
  • [41] Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome
    Shah, Suraj S.
    Fulton, Anne
    Jabroun, Mireille
    Brightman, Diana
    Simpson, Brittany N.
    Bodamer, Olaf A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (05) : 1325 - 1338
  • [42] Genotype-phenotype relationship for recently identified susceptibility genes for schizophrenia
    Maier, W
    Schwab, SG
    Tepest, R
    Hallmayer, J
    Falkai, P
    SCHIZOPHRENIA RESEARCH, 2004, 67 (01) : 28 - 29
  • [43] Determining the Genotype-Phenotype Relationship of atg18 Mutants
    Fischer, Matthew
    Selva, Erica
    FASEB JOURNAL, 2015, 29
  • [44] Molecular analysis of the genotype-phenotype relationship in factor VII deficiency
    D. Millar
    G. Kemball-Cook
    J. McVey
    E. Tuddenham
    A. Mumford
    G. Attock
    J. Reverter
    N. Lanir
    L. Parapia
    J. Reynaud
    E. Meili
    A. von Felton
    U. Martinowitz
    D. Prangnell
    M. Krawczak
    D. Cooper
    Human Genetics, 2000, 107 : 327 - 342
  • [45] Genotype-phenotype relationship in Italian subjects with congenital FXI deficiency
    Favuzzi, Giovanni
    Tiscia, Giovanni Luca
    Chinni, Elena
    Colaizzo, Donatella
    Bafunno, Valeria
    Vecchione, Gennaro
    Margaglione, Maurizio
    Grandone, Elvira
    THROMBOSIS RESEARCH, 2012, 130 : S140 - S140
  • [46] Molecular analysis of the genotype-phenotype relationship in factor X deficiency
    Millar, DS
    Elliston, L
    Deex, P
    Krawczak, M
    Wacey, AI
    Reynaud, J
    Nieuwenhuis, HK
    Bolton-Maggs, P
    Mannucci, PM
    Reverter, JC
    Cachia, P
    Pasi, KJ
    Layton, DM
    Cooper, DN
    HUMAN GENETICS, 2000, 106 (02) : 249 - 257
  • [47] Genotype-phenotype relationship among Egyptian children with Rett syndrome
    Mansour, Lobna
    El Sobky, Ezzat
    Mohamed, Solaf M.
    Marzouk, Huda
    Tarek, Lamia A.
    JOURNAL OF THE EGYPTIAN PUBLIC HEALTH ASSOCIATION, 2015, 90 (03): : 133 - 137
  • [48] GENOTYPE-PHENOTYPE RELATIONSHIP IN VARIOUS DEGREES OF ARYLSULFATASE-A DEFICIENCY
    KAPPLER, J
    LEINEKUGEL, P
    CONZELMANN, E
    KLEIJER, WJ
    KOHLSCHUTTER, A
    TONNESEN, T
    ROCHEL, M
    FREYCON, F
    PROPPING, P
    HUMAN GENETICS, 1991, 86 (05) : 463 - 470
  • [49] The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain
    Izumi, Rumiko
    Takahashi, Toshiaki
    Suzuki, Naoki
    Niihori, Tetsuya
    Ono, Hiroya
    Nakamura, Naoko
    Katada, Shinichi
    Kato, Masaaki
    Warita, Hitoshi
    Tateyama, Maki
    Aoki, Yoko
    Aoki, Masashi
    HUMAN MUTATION, 2020, 41 (09) : 1540 - 1554
  • [50] Genotype-phenotype relationship in patients affected by novel CLCNKB mutations
    Andrini, Olga
    Keck, Mathilde
    Blanchard, Anne
    Vargas-Poussou, Rosa
    Lourdel, Stephane
    Teulon, Jacques
    FASEB JOURNAL, 2013, 27