Exploring the diagnostic yield of family screening and genetic testing in adolescent individuals with pre-clinical phenotypes

被引:0
|
作者
Abela, M. [1 ]
Scerri, J. [2 ]
Debattista, J. [2 ]
Felice, T. [2 ]
Grech, V [3 ]
Scerri, C. [2 ]
机构
[1] Mater Dei Hosp Malta, Msida, Malta
[2] Univ Malta, Mol Pathol & Genet, Msida, Malta
[3] Univ Malta, Msida, Malta
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:1
相关论文
共 50 条
  • [31] Sudden arrhythmic death syndrome-diagnostic yield of combined clinical & genetic screening in a British specialist clinic
    Lambiase, Pier D.
    Kaski, Juan C.
    Firman, Eileen
    Elliott, Perry M.
    Ahmed, Akbar K.
    Chow, Anthony W.
    Sheppard, Mary
    Lowe, Martin D.
    Christiansen, Michael
    McKenna, William J.
    CIRCULATION, 2007, 116 (16) : 653 - 653
  • [32] Diagnostic yield of genetic testing in cardiac arrest survivors with or without clinical evidence of cardiac disease: A swiss experience
    Asatryan, B.
    Seiler, J.
    Servatius, H.
    Noti, F.
    Tanner, H.
    Roten, L.
    Dillier, R.
    Saguner, A. M.
    Mueller, S. A.
    Duru, F.
    Auricchio, A.
    Ammann, P.
    Reichlin, T.
    Burri, H.
    Medeiros-Domingo, A.
    EUROPEAN HEART JOURNAL, 2018, 39 : 811 - 812
  • [33] Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update
    Liaquat, Khalida
    Gall, Kim
    Izzo, Emmanuela
    Singh, Akashdeep
    Alakurtti, Kirsi
    Seppala, Eija
    Koskinen, Lotta
    Koskenvuo, Juha
    Alastalo, Tero-Pekka
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S59 - S59
  • [34] Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis
    Halliday, Dorothy
    Emmanouil, Beatrice
    Evans, D. Gareth R.
    CLINICAL GENETICS, 2023, 103 (05) : 540 - 552
  • [35] The first step to IBD prevention exploring rate of pre-clinical inflammation in subset of asymptomatic subjects at risk of IBD: screening stage of the PIONIR trial
    Kenigsberg, S.
    Turpin, W.
    Lee, S. H.
    Ledder, O.
    Shimhlash, Y.
    Griffiths, A.
    Huynh, H. Q.
    El-Matary, W.
    Otley, A.
    Avni-Biron, I.
    Jacobson, K.
    Panaccione, R.
    Bitton, A.
    Croitoru, K.
    Turner, D.
    JOURNAL OF CROHNS & COLITIS, 2024, 18 : I585 - I586
  • [36] Integrating family health history screening and genetic testing via electronic health record with clinical decision support in routine mammography screening
    Hulick, Peter
    Choi, Sarah
    Dunnenberger, Henry
    DePersia, Allison
    GENETICS IN MEDICINE, 2022, 24 (03) : S308 - S308
  • [37] Histocompatibility testing of cultivated human bone marrow stromal cells - A promising step towards pre-clinical screening for allogeneic stem cell therapy
    Koppula, Purushotham Reddy
    Chelluri, Lakshmi Kiran
    Polisetti, Naresh
    Vemuganti, Geeta K.
    CELLULAR IMMUNOLOGY, 2009, 259 (01) : 61 - 65
  • [38] Genomic testing in more than 1,000 individuals from Pakistani families results in high diagnostic yield and remarkable clinical impact
    Bertoli-Avella, A.
    Cheema, H.
    Skrahina, V.
    Anjum, M. Nadeem
    Salman, N.
    Saeed, A.
    Beetz, C.
    Perez-Lopez, J.
    Rocha, M.
    Alawbathani, S.
    Pereira, C.
    Hovakimyan, M.
    Patric, I.
    Paknia, O.
    Ameziane, N.
    Cozma, C.
    Bauer, P.
    Rolfs, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 620 - 620
  • [39] Prenatal Genetic Screening and Diagnostic Testing: Assessing Patients' Knowledge, Clinical Experiences, and Utilized Resources in Comparison to Provider's Perceptions
    Delgado, Arlin
    Schulkin, Jay
    Macri, Charles J.
    AJP REPORTS, 2022, 12 (01): : E27 - E32
  • [40] Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease
    Mariya, Tasuku
    Shichiri, Yui
    Sugimoto, Takeshi
    Kawamura, Rie
    Miyai, Syunsuke
    Inagaki, Hidehito
    Sugihara, Eiji
    Ikeda, Keiko
    Baba, Tsuyoshi
    Ishikawa, Aki
    Ammae, Michiko
    Nakaoka, Yoshiharu
    Saito, Tsuyoshi
    Sakurai, Akihiro
    Kurahashi, Hiroki
    PRENATAL DIAGNOSIS, 2023, 43 (03) : 304 - 313