These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 27762439)

  • 1. Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
    Chen TH; Tian X; Kuo PL; Pan HP; Wong LC; Jong YJ
    Prenat Diagn; 2016 Dec; 36(12):1135-1138. PubMed ID: 27762439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Compound heterozygous mutation of
    Li N; Qiao C; Lv Y; Yang T; Liu H; Yu WQ; Liu CX
    World J Clin Cases; 2019 Nov; 7(21):3655-3661. PubMed ID: 31750350
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
    Wilbe M; Ekvall S; Eurenius K; Ericson K; Casar-Borota O; Klar J; Dahl N; Ameur A; Annerén G; Bondeson ML
    J Med Genet; 2015 Mar; 52(3):195-202. PubMed ID: 25612909
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
    Feingold-Zadok M; Chitayat D; Chong K; Injeyan M; Shannon P; Chapmann D; Maymon R; Pillar N; Reish O
    Prenat Diagn; 2017 Feb; 37(2):144-150. PubMed ID: 27933661
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
    Tan-Sindhunata MB; Mathijssen IB; Smit M; Baas F; de Vries JI; van der Voorn JP; Kluijt I; Hagen MA; Blom EW; Sistermans E; Meijers-Heijboer H; Waisfisz Q; Weiss MM; Groffen AJ
    Eur J Hum Genet; 2015 Sep; 23(9):1151-7. PubMed ID: 25537362
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.
    Yfantis H; Nonaka D; Castellani R; Harman C; Sun CC
    Prenat Diagn; 2002 Jan; 22(1):42-7. PubMed ID: 11810649
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses.
    Witters I; Moerman P; Fryns JP
    Am J Med Genet; 2002 Nov; 113(1):23-8. PubMed ID: 12400062
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
    Alkhunaizi E; Martin N; Jelin AC; Rosner M; Bailey DJ; Steiner LA; Lakhani S; Ji W; Katzman PJ; Forster KR; Jarinova O; Shannon P; Chitayat D;
    Am J Med Genet A; 2023 Mar; 191(3):760-769. PubMed ID: 36495114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases.
    Hellmund A; Berg C; Geipel A; Müller A; Gembruch U
    Arch Gynecol Obstet; 2016 Oct; 294(4):697-707. PubMed ID: 26825730
    [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. Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
    Yuan H; Wang Q; Zeng X; He P; Xu W; Guo H; Liu Y; Lin Y
    Orphanet J Rare Dis; 2022 Apr; 17(1):149. PubMed ID: 35379254
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of four TTN variants in three families with fetal akinesia deformation sequence.
    Fan L; Li H; Xu Y; Huang Y; Qian Y; Jin P; Shen X; Li Z; Liu M; Liang Y; Shen G; Dong M
    BMC Med Genomics; 2024 Jun; 17(1):170. PubMed ID: 38937733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
    Bonnin E; Cabochette P; Filosa A; Jühlen R; Komatsuzaki S; Hezwani M; Dickmanns A; Martinelli V; Vermeersch M; Supply L; Martins N; Pirenne L; Ravenscroft G; Lombard M; Port S; Spillner C; Janssens S; Roets E; Van Dorpe J; Lammens M; Kehlenbach RH; Ficner R; Laing NG; Hoffmann K; Vanhollebeke B; Fahrenkrog B
    PLoS Genet; 2018 Dec; 14(12):e1007845. PubMed ID: 30543681
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
    Chen CP
    Taiwan J Obstet Gynecol; 2012 Mar; 51(1):12-7. PubMed ID: 22482962
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
    Hakonen AH; Polvi A; Saloranta C; Paetau A; Heikkilä P; Almusa H; Ellonen P; Jakkula E; Saarela J; Aittomäki K
    Am J Med Genet A; 2019 Jul; 179(7):1362-1365. PubMed ID: 31059209
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
    Radhakrishnan P; Shukla A; Girisha KM; Nayak SS
    Am J Med Genet A; 2020 Apr; 182(4):804-807. PubMed ID: 31880392
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS).
    Donker ME; Eijckelhof BH; Tan GM; de Vries JI
    Early Hum Dev; 2009 Dec; 85(12):785-90. PubMed ID: 19944545
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.