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
  • [41] Diagnostic Yield and Clinical Utility of Genomic Testing in Patients with Suspected Genetic Kidney Disease: Singapore's First-Year Experience
    Lim, Ru Sin
    Lim, Regina Shaoying
    Wang Ziyin
    Zhang Yaochun
    Lim, Si Ting
    Than, Mya
    Ng, Jun Li
    Chong, Kay Yuan
    Ho, Jing Yi
    Leow, Esther Huimin
    Ng, Yong Hong
    Jun, Choo Chon Jason
    Chan, Gek Cher
    Da Yi
    Du Ruochen
    Ng, Kar Hui
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
  • [42] Sudden arrhythmic death syndrome: Diagnostic yield of clinical screening in family members at the Heart Hospital, University College London, 2003-6
    Lambiase, P.
    Kaski, J.
    Firman, E.
    Elliott, P.
    Ahmed, A.
    Chow, A.
    Hughes, S.
    Sheppard, M.
    Lowe, M.
    McKenna, W.
    HEART, 2007, 93 : A84 - A84
  • [43] Pre-Clinical Evaluation of a Real-Time PCR Assay on a Portable Instrument as a Possible Field Diagnostic Tool: Experiences from the Testing of Clinical Samples for African and Classical Swine Fever Viruses
    Liu, L.
    Luo, Y.
    Accensi, F.
    Ganges, L.
    Rodriguez, F.
    Shan, H.
    Stahl, K.
    Qiu, H. -J.
    Belak, S.
    TRANSBOUNDARY AND EMERGING DISEASES, 2017, 64 (05) : E31 - E35
  • [44] PRE-CLINICAL CHEMOSENSITIVITY TESTING USING HUMAN NEURO-BLASTOMA CELL-LINES IN SOFT AGAR - A NEW TUMOR-SPECIFIC DRUG SCREENING MODEL
    ZELTZER, PM
    SAROSDY, M
    VONHOFF, D
    SCHNEIDER, S
    SEEGER, R
    SCHLESINGER, H
    CLINICAL RESEARCH, 1982, 30 (01): : A139 - A139
  • [45] Sudden cardiac arrest in patients without overt heart disease - Clinical assessment, family screening and genetic testing by next generation sequencing
    Stepien-Wojno, M.
    Poninska, I.
    Foss-Nieradko, B.
    Rydzanicz, M.
    Michalak, E.
    Bilinska, M.
    Truszkowska, G.
    Baranowski, R.
    Kowalik, I.
    Chmielewski, P.
    Lutynska, A.
    Biernacka, E. K.
    Stepinska, J.
    Ploski, R.
    Bilinska, Z. T.
    EUROPEAN HEART JOURNAL, 2018, 39 : 599 - 600
  • [46] Identification of individuals at high-risk for inherited colon or breast cancer syndromes in primary care: Implications of an inadequate family history assessment for early screening and genetic testing.
    Murff, H
    Syngal, S
    JOURNAL OF GENERAL INTERNAL MEDICINE, 2004, 19 : 161 - 162
  • [47] Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: update over 3-year program in Europe and Middle East
    Singh, Akashdeep
    Gall, Kimberly
    Izzo, Emanuela
    Alakurtti, Kirsi
    Seppala, Eija H.
    Koskinen, Lotta
    Koskenvuo, Juha
    Alastalo, Tero-Pekka
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 216 - 217
  • [48] Major contributors identified for increase in diagnostic yield in our 10 years of experience in genetic testing for cardiomyopathies; data sharing, titin (TTN) mutations and stricter clinical inclusion criteria
    van Slegtenhorst, M. A.
    Kromosoeto, J. N. R.
    van Tienhoven, M.
    van Velzen, H. G.
    Verhagen, J. M. A.
    van Waning, J. I.
    Kockx, C. E. M.
    van de Laar, I. M. B. H.
    Caliskan, K.
    Michels, M.
    Schinkel, A. F. L.
    Wessels, M. W.
    Majoor-Krakauer, D. F.
    van IJcken, W. F. J.
    Bruggenwirth, H. T.
    Oldenburg, R. A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 265 - 265
  • [49] Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
    Singh, Akashdeep
    Gall, Kimberly
    Izzo, Emanuela
    Alakurtti, Kirsi
    Seppala, Eija H.
    Koskinen, Lotta
    Koskenvuo, Juha
    Alastalo, Tero-Pekka
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 (02) : S100 - S101
  • [50] Multidisciplinary and standardised post-mortem genetic analysis in a representative Czech cohort of sudden cardiac death (SCD) victims, together with genetic screening of their living relatives, yields high diagnostic yield in cases with positive family history and renders primary prevention of SD in affected families
    Votypka, Pavel
    Peldova, Petra
    Norambuena, Patricia
    Pohlova-Kucerova, Stepanka
    Tavacova, Terezia
    Macek, Milan, Sr.
    Macek, Milan
    Janousek, Jan
    Kautzner, Josef
    Krebsova, Alice
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 414 - 415