BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 34246755)

  • 21. Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
    Yadava SM; Ashkinadze E
    J Genet Couns; 2019 Apr; 28(2):251-255. PubMed ID: 30629328
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.
    Rinaldi B; Cesaretti C; Boito S; Villa R; Guerneri S; Borzani I; Rizzuti T; Marchetti D; Conte G; Cinnante C; Triulzi F; Persico N; Iascone M; Natacci F
    Prenat Diagn; 2022 Jun; 42(7):927-933. PubMed ID: 35584264
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
    Normand EA; Braxton A; Nassef S; Ward PA; Vetrini F; He W; Patel V; Qu C; Westerfield LE; Stover S; Dharmadhikari AV; Muzny DM; Gibbs RA; Dai H; Meng L; Wang X; Xiao R; Liu P; Bi W; Xia F; Walkiewicz M; Van den Veyver IB; Eng CM; Yang Y
    Genome Med; 2018 Sep; 10(1):74. PubMed ID: 30266093
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].
    Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis ; Lou G; Hou Q; Yang K; Guo L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):457-463. PubMed ID: 35598257
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
    Diderich KEM; Romijn K; Joosten M; Govaerts LCP; Polak M; Bruggenwirth HT; Wilke M; van Slegtenhorst MA; van Bever Y; Brooks AS; Mancini GMS; van de Laar IMBH; Kromosoeto JNR; Knapen MFCM; Go ATJI; Van Opstal D; Hoefsloot LH; Galjaard RH; Srebniak MI
    Acta Obstet Gynecol Scand; 2021 Jun; 100(6):1106-1115. PubMed ID: 33249554
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.
    Cao C; Liu F; Yang Y; Zhang Q; Huang J; Liu X
    Mol Genet Genomic Med; 2023 Nov; 11(11):e2246. PubMed ID: 37766479
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.
    Pauta M; Martinez-Portilla RJ; Borrell A
    Ultrasound Obstet Gynecol; 2022 Jun; 59(6):715-722. PubMed ID: 35041238
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
    Bertoli-Avella AM; Beetz C; Ameziane N; Rocha ME; Guatibonza P; Pereira C; Calvo M; Herrera-Ordonez N; Segura-Castel M; Diego-Alvarez D; Zawada M; Kandaswamy KK; Werber M; Paknia O; Zielske S; Ugrinovski D; Warnack G; Kampe K; Iurașcu MI; Cozma C; Vogel F; Alhashem A; Hertecant J; Al-Shamsi AM; Alswaid AF; Eyaid W; Al Mutairi F; Alfares A; Albalwi MA; Alfadhel M; Al-Sannaa NA; Reardon W; Alanay Y; Rolfs A; Bauer P
    Eur J Hum Genet; 2021 Jan; 29(1):141-153. PubMed ID: 32860008
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.
    Tse KY; Surya IU; Irwinda R; Leung KY; Ting YH; Cao Y; Choy KW
    Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372383
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Challenges in variant interpretation in prenatal exome sequencing.
    Basel-Salmon L; Sukenik-Halevy R
    Eur J Med Genet; 2022 Feb; 65(2):104410. PubMed ID: 34952236
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.
    Chen X; Jiang Y; Chen R; Qi Q; Zhang X; Zhao S; Liu C; Wang W; Li Y; Sun G; Song J; Huang H; Cheng C; Zhang J; Cheng L; Liu J
    J Transl Med; 2022 Jan; 20(1):10. PubMed ID: 34980134
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.
    Huang W; Zhu X; Sun G; Gao Z; Kong X
    BMC Med Genomics; 2023 Feb; 16(1):25. PubMed ID: 36797717
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
    Zhang X; Ren Y; Song R; Wang L; Xu H; Xie X; Zhou H; Sun P; Zhang M; Zhao Q; You Y; Gao Z; Meng Y; Lu Y
    Prenat Diagn; 2021 Oct; 41(11):1401-1413. PubMed ID: 34091931
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
    Lei TY; Fu F; Li R; Wang D; Wang RY; Jing XY; Deng Q; Li ZZ; Liu ZQ; Yang X; Li DZ; Liao C
    Nephrol Dial Transplant; 2017 Oct; 32(10):1665-1675. PubMed ID: 28387813
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
    Zhou J; Yang Z; Sun J; Liu L; Zhou X; Liu F; Xing Y; Cui S; Xiong S; Liu X; Yang Y; Wei X; Zou G; Wang Z; Wei X; Wang Y; Zhang Y; Yan S; Wu F; Zeng F; Wang J; Duan T; Peng Z; Sun L
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33800913
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study.
    Que Y; Cai M; Yang F; Ji Q; Zhang S; Huang W; Gao Y; Zhou B; Huang H; Cao H; Lin N
    BMC Pregnancy Childbirth; 2023 Sep; 23(1):679. PubMed ID: 37726736
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology.
    Xue S; Yan H; Chen J; Li N; Wang J; Liu Y; Zhang H; Li S; Zhang W; Chen D; Chen M
    Cytogenet Genome Res; 2020; 160(2):57-62. PubMed ID: 32036363
    [TBL] [Abstract][Full Text] [Related]  

  • 38. All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
    Faas BHW; Westra D; de Munnik SA; van Rij M; Marcelis C; Joosten S; Krapels I; Vernimmen V; Heijligers M; Willemsen MH; de Leeuw N; Rinne T; Pfundt R; Smeekens SP; Stegmann SPA; Macville M; Sikkel E; Coumans A; Wijnberger L; Derks I; van Lent-Albrechts J; Hofste T; Timmermans R; van den End J; Stevens SJC; Feenstra I
    Prenat Diagn; 2023 Apr; 43(4):527-543. PubMed ID: 36647814
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic tests aid in counseling of fetuses with cerebellar vermis defects.
    Li L; Fu F; Li R; Xiao W; Yu Q; Wang D; Jing X; Zhang Y; Yang X; Pan M; Liu Z; Liao C
    Prenat Diagn; 2020 Sep; 40(10):1228-1238. PubMed ID: 32386258
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Fetal exome sequencing: yield and limitations in a tertiary referral center.
    Daum H; Meiner V; Elpeleg O; Harel T;
    Ultrasound Obstet Gynecol; 2019 Jan; 53(1):80-86. PubMed ID: 29947050
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.