BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 33743358)

  • 1. Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.
    Cao Q; Yang Y; Pan M; Han J; Yang X; Li DZ
    Eur J Obstet Gynecol Reprod Biol; 2021 May; 260():59-63. PubMed ID: 33743358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
    Ravenscroft G; Clayton JS; Faiz F; Sivadorai P; Milnes D; Cincotta R; Moon P; Kamien B; Edwards M; Delatycki M; Lamont PJ; Chan SH; Colley A; Ma A; Collins F; Hennington L; Zhao T; McGillivray G; Ghedia S; Chao K; O'Donnell-Luria A; Laing NG; Davis MR
    J Med Genet; 2021 Sep; 58(9):609-618. PubMed ID: 33060286
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
    Zhu X; Gao Z; Wang Y; Huang W; Li Q; Jiao Z; Liu N; Kong X
    Ultrasound Obstet Gynecol; 2022 Dec; 60(6):780-792. PubMed ID: 35726512
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
    Reischer T; Liebmann-Reindl S; Bettelheim D; Balendran-Braun S; Streubel B
    Prenat Diagn; 2020 Dec; 40(12):1532-1539. PubMed ID: 32779773
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.
    Yang X; Huang LY; Pan M; Xu LL; Zhen L; Han J; Li DZ
    Prenat Diagn; 2020 Oct; 40(11):1426-1431. PubMed ID: 32668055
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
    Al-Hamed MH; Kurdi W; Khan R; Tulbah M; AlNemer M; AlSahan N; AlMugbel M; Rafiullah R; Assoum M; Monies D; Shah Z; Rahbeeni Z; Derar N; Hakami F; Almutairi G; AlOtaibi A; Ali W; AlShammasi A; AlMubarak W; AlDawoud S; AlAmri S; Saeed B; Bukhari H; Ali M; Akili R; Alquayt L; Hagos S; Elbardisy H; Akilan A; Almuhana N; AlKhalifah A; Abouelhoda M; Ramzan K; Sayer JA; Imtiaz F
    Hum Genet; 2022 Jan; 141(1):101-126. PubMed ID: 34853893
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
    Quinlan-Jones E; Lord J; Williams D; Hamilton S; Marton T; Eberhardt RY; Rinck G; Prigmore E; Keelagher R; McMullan DJ; Maher ER; Hurles ME; Kilby MD
    Genet Med; 2019 May; 21(5):1065-1073. PubMed ID: 30293990
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
    Dufke A; Hoopmann M; Waldmüller S; Prodan NC; Beck-Wödl S; Grasshoff U; Heinrich T; Riess A; Kehrer M; Falb RJ; Liebmann A; Roggia C; Stampfer M; Schadeck M; Müller AJ; Grimmel M; Stöbe P; Gauck D; Buchert-Lo R; Baumann S; Schäferhoff K; Bertrand M; Menden B; Sturm M; Schütz L; Riess O; Ossowski S; Haack TB; Kagan KO
    Prenat Diagn; 2022 Jun; 42(7):901-910. PubMed ID: 35574990
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
    Mone F; Abu Subieh H; Doyle S; Hamilton S; Mcmullan DJ; Allen S; Marton T; Williams D; Kilby MD
    Ultrasound Obstet Gynecol; 2022 Jun; 59(6):723-730. PubMed ID: 34940998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.
    Chen M; Chen J; Wang C; Chen F; Xie Y; Li Y; Li N; Wang J; Zhang VW; Chen D
    Eur J Obstet Gynecol Reprod Biol; 2020 Aug; 251():119-124. PubMed ID: 32502767
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
    Seed E; Noon F; Milnes D; Roscioli T; Kristensen K; Ellwood D; DaSilva Costa F
    Prenat Diagn; 2023 Dec; 43(13):1678-1681. PubMed ID: 38111203
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J; Yang YD; He Y; Liu WJ; Zhen L; Pan M; Yang X; Zhang VW; Liao C; Li DZ
    Prenat Diagn; 2020 Apr; 40(5):577-584. PubMed ID: 31994750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fetal akinesia: The need for clinical vigilance in first trimester with decreased fetal movements.
    Zhang YL; Zhen L; Xu LL; Li DZ
    Taiwan J Obstet Gynecol; 2021 May; 60(3):559-562. PubMed ID: 33966749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Trio exome sequencing is highly relevant in prenatal diagnostics.
    Gabriel H; Korinth D; Ritthaler M; Schulte B; Battke F; von Kaisenberg C; Wüstemann M; Schulze B; Friedrich-Freksa A; Pfeiffer L; Entezami M; Schröer A; Bürger J; Schwaibold EMC; Lebek H; Biskup S
    Prenat Diagn; 2022 Jun; 42(7):845-851. PubMed ID: 34958143
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
    Turgut GT; Altunoglu U; Gulec C; Sarac Sivrikoz T; Kalaycı T; Toksoy G; Avcı Ş; Yıldırım BT; Sayın GY; Kalelioglu IH; Karaman B; Has R; Başaran S; Yuksel A; Kayserili H; Uyguner ZO
    Clin Genet; 2024 Jun; 105(6):596-610. PubMed ID: 38278647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
    Winters L; Van Hoof E; De Catte L; Van Den Bogaert K; de Ravel T; De Waele L; Corveleyn A; Breckpot J
    Eur J Paediatr Neurol; 2017 Sep; 21(5):745-753. PubMed ID: 28495245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy.
    Yu QX; Zhen L; Lin XM; Wen YJ; Li DZ
    Eur J Obstet Gynecol Reprod Biol; 2024 Jan; 292():263-266. PubMed ID: 38071834
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
    Ferretti L; Mellis R; Chitty LS
    Eur J Med Genet; 2019 Aug; 62(8):103663. PubMed ID: 31085342
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
    Kucińska-Chahwan A; Geremek M; Roszkowski T; Bijok J; Massalska D; Ciebiera M; Correia H; Pereira-Caetano I; Barreta A; Obersztyn E; Kutkowska-Kaźmierczak A; Własienko P; Krajewska-Walasek M; Węgrzyn P; Dudarewicz L; Krzeszowski W; Rybak-Krzyszkowska M; Nowakowska B
    Genes (Basel); 2022 Apr; 13(5):. PubMed ID: 35627109
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
    Alamillo CL; Powis Z; Farwell K; Shahmirzadi L; Weltmer EC; Turocy J; Lowe T; Kobelka C; Chen E; Basel D; Ashkinadze E; D'Augelli L; Chao E; Tang S
    Prenat Diagn; 2015 Nov; 35(11):1073-8. PubMed ID: 26147564
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.