BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 31026592)

  • 1. Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.
    Le Fevre A; Baptista J; Ellard S; Overton T; Oliver A; Gradhand E; Scurr I
    Eur J Med Genet; 2020 Feb; 63(2):103657. PubMed ID: 31026592
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.
    Correa ARE; Endrakanti M; Naini K; Kabra M; Gupta N
    Ann Hum Genet; 2021 May; 85(3-4):138-145. PubMed ID: 33655537
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
    Gu H; Yuan ZZ; Xie XH; Yang YF; Tan ZP
    J Hum Genet; 2022 Oct; 67(10):573-577. PubMed ID: 35691949
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
    Breuer K; Riedhammer KM; Müller N; Schaidinger B; Dombrowsky G; Dittrich S; Zeidler S; Bauer UMM; Westphal DS; Meitinger T; Dakal TC; Hitz MP; Breuer J; Reutter H; Hilger AC; Hoefele J
    Eur J Hum Genet; 2022 Aug; 30(8):946-954. PubMed ID: 35474353
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
    Vetrini F; D'Alessandro LC; Akdemir ZC; Braxton A; Azamian MS; Eldomery MK; Miller K; Kois C; Sack V; Shur N; Rijhsinghani A; Chandarana J; Ding Y; Holtzman J; Jhangiani SN; Muzny DM; Gibbs RA; Eng CM; Hanchard NA; Harel T; Rosenfeld JA; Belmont JW; Lupski JR; Yang Y
    Am J Hum Genet; 2016 Oct; 99(4):886-893. PubMed ID: 27616478
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
    Liu S; Chen W; Zhan Y; Li S; Ma X; Ma D; Sheng W; Huang G
    Sci Rep; 2019 Apr; 9(1):6683. PubMed ID: 31040315
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
    Liu H; Giguet-Valard AG; Simonet T; Szenker-Ravi E; Lambert L; Vincent-Delorme C; Scheidecker S; Fradin M; Morice-Picard F; Naudion S; Ciorna-Monferrato V; Colin E; Fellmann F; Blesson S; Jouk PS; Francannet C; Petit F; Moutton S; Lehalle D; Chassaing N; El Zein L; Bazin A; Bénéteau C; Attié-Bitach T; Hanu SM; Brechard MP; Chiesa J; Pasquier L; Rooryck-Thambo C; Van Maldergem L; Cabrol C; El Chehadeh S; Vasiljevic A; Isidor B; Abel C; Thevenon J; Di Filippo S; Vigouroux-Castera A; Attia J; Quelin C; Odent S; Piard J; Giuliano F; Putoux A; Khau Van Kien P; Yardin C; Touraine R; Reversade B; Bouvagnet P
    Hum Mutat; 2020 Dec; 41(12):2167-2178. PubMed ID: 33131162
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
    Bolkier Y; Barel O; Marek-Yagel D; Atias-Varon D; Kagan M; Vardi A; Mishali D; Katz U; Salem Y; Tirosh-Wagner T; Jacobson JM; Raas-Rothschild A; Chorin O; Eliyahu A; Sarouf Y; Shlomovitz O; Veber A; Shalva N; Javasky E; Ben Moshe Y; Staretz-Chacham O; Rechavi G; Mane S; Anikster Y; Vivante A; Pode-Shakked B
    J Med Genet; 2022 Jul; 59(7):691-696. PubMed ID: 34215651
    [TBL] [Abstract][Full Text] [Related]  

  • 9. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
    Xia H; Huang X; Deng S; Xu H; Yang Y; Liu X; Yuan L; Deng H
    PLoS One; 2021; 16(6):e0252786. PubMed ID: 34133440
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
    Berauer JP; Mezina AI; Okou DT; Sabo A; Muzny DM; Gibbs RA; Hegde MR; Chopra P; Cutler DJ; Perlmutter DH; Bull LN; Thompson RJ; Loomes KM; Spinner NB; Rajagopalan R; Guthery SL; Moore B; Yandell M; Harpavat S; Magee JC; Kamath BM; Molleston JP; Bezerra JA; Murray KF; Alonso EM; Rosenthal P; Squires RH; Wang KS; Finegold MJ; Russo P; Sherker AH; Sokol RJ; Karpen SJ;
    Hepatology; 2019 Sep; 70(3):899-910. PubMed ID: 30664273
    [TBL] [Abstract][Full Text] [Related]  

  • 11.
    Whitchurch JB; Schneider S; Hilger AC; Köllges R; Stegmann JD; Waffenschmidt L; Dyer L; Thiele H; Dhabhai B; Dakal TC; Müller A; Norris DP; Reutter HM
    Cells; 2024 Jan; 13(2):. PubMed ID: 38247840
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
    Paulussen AD; Steyls A; Vanoevelen J; van Tienen FH; Krapels IP; Claes GR; Chocron S; Velter C; Tan-Sindhunata GM; Lundin C; Valenzuela I; Nagy B; Bache I; Maroun LL; Avela K; Brunner HG; Smeets HJ; Bakkers J; van den Wijngaard A
    Eur J Hum Genet; 2016 Dec; 24(12):1783-1791. PubMed ID: 27406248
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel biallelic loss-of-function variant in
    Ganapathi M; Buchovecky CM; Cristo F; Ahimaz P; Ruzal-Shapiro C; Wou K; Inácio JM; Iglesias A; Belo JA; Jobanputra V
    Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36316122
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human Genetics of Defects of Situs.
    Perrot A; Rickert-Sperling S
    Adv Exp Med Biol; 2024; 1441():705-717. PubMed ID: 38884744
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characteristics and outcomes of fetuses with laterality defects are the current outcomes better? A single center study.
    Fesslova V; Pluchinotta F; Brankovic J; Boschetto C; Piazza L; Inversetti A; Sigismondi C; Giorgione V; Frigiola A
    J Matern Fetal Neonatal Med; 2021 Feb; 34(4):547-554. PubMed ID: 31106637
    [No Abstract]   [Full Text] [Related]  

  • 16. Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.
    Vogel P; Read R; Hansen GM; Freay LC; Zambrowicz BP; Sands AT
    Vet Pathol; 2010 Jan; 47(1):120-31. PubMed ID: 20080492
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
    Namavarian A; Eid A; Goh ES; Thakur V
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1358. PubMed ID: 32633470
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
    Li S; Liu S; Chen W; Yuan Y; Gu R; Song Y; Li J; Cao Y; Lin Y; Xu J; Wang H; Ma D; Ma X; Sheng W; Huang G
    Sci Rep; 2018 Aug; 8(1):12386. PubMed ID: 30120289
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
    Guimier A; Gabriel GC; Bajolle F; Tsang M; Liu H; Noll A; Schwartz M; El Malti R; Smith LD; Klena NT; Jimenez G; Miller NA; Oufadem M; Moreau de Bellaing A; Yagi H; Saunders CJ; Baker CN; Di Filippo S; Peterson KA; Thiffault I; Bole-Feysot C; Cooley LD; Farrow EG; Masson C; Schoen P; Deleuze JF; Nitschké P; Lyonnet S; de Pontual L; Murray SA; Bonnet D; Kingsmore SF; Amiel J; Bouvagnet P; Lo CW; Gordon CT
    Nat Genet; 2015 Nov; 47(11):1260-3. PubMed ID: 26437028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
    Li Y; Yagi H; Onuoha EO; Damerla RR; Francis R; Furutani Y; Tariq M; King SM; Hendricks G; Cui C; Saydmohammed M; Lee DM; Zahid M; Sami I; Leatherbury L; Pazour GJ; Ware SM; Nakanishi T; Goldmuntz E; Tsang M; Lo CW
    PLoS Genet; 2016 Feb; 12(2):e1005821. PubMed ID: 26918822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.