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 *

150 related articles for article (PubMed ID: 36316122)

  • 1. 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]  

  • 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. 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]  

  • 4. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
    Dardas Z; Fatih JM; Jolly A; Dawood M; Du H; Grochowski CM; Jones EG; Jhangiani SN; Wehrens XHT; Liu P; Bi W; Boerwinkle E; Posey JE; Muzny DM; Gibbs RA; Lupski JR; Coban-Akdemir Z; Morris SA
    Genome Med; 2024 Apr; 16(1):53. PubMed ID: 38570875
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.
    Cristo F; Inácio JM; de Almeida S; Mendes P; Martins DS; Maio J; Anjos R; Belo JA
    BMC Med Genet; 2017 Jul; 18(1):77. PubMed ID: 28738792
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.
    D'Alessandro LC; Casey B; Siu VM
    Congenit Heart Dis; 2013; 8(2):E36-40. PubMed ID: 22171628
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
    Qin XJ; Xu MM; Ye JJ; Niu YW; Wu YR; Xu R; Li F; Fu QH; Chen S; Sun K; Xu YJ
    Hum Genomics; 2022 Sep; 16(1):41. PubMed ID: 36123719
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
    Ma L; Selamet Tierney ES; Lee T; Lanzano P; Chung WK
    Cardiol Young; 2012 Apr; 22(2):194-201. PubMed ID: 21864452
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
    Tariq M; Belmont JW; Lalani S; Smolarek T; Ware SM
    Genome Biol; 2011 Sep; 12(9):R91. PubMed ID: 21936905
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.
    Kaburagi K; Hagiwara Y; Tachikawa K; Miyake N; Akiyama H; Kawai Y; Omae Y; Tokunaga K; Yamano Y; Shimizu T; Mitsuhashi S
    BMC Neurol; 2024 Apr; 24(1):119. PubMed ID: 38605286
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.
    Cowan JR; Tariq M; Shaw C; Rao M; Belmont JW; Lalani SR; Smolarek TA; Ware SM
    Philos Trans R Soc Lond B Biol Sci; 2016 Dec; 371(1710):. PubMed ID: 27821535
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
    Hagen EM; Sicko RJ; Kay DM; Rigler SL; Dimopoulos A; Ahmad S; Doleman MH; Fan R; Romitti PA; Browne ML; Caggana M; Brody LC; Shaw GM; Jelliffe-Pawlowski LL; Mills JL
    Hum Genet; 2016 Dec; 135(12):1355-1364. PubMed ID: 27637763
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
    Chen W; Zhang Y; Shen L; Zhu J; Cai K; Lu Z; Zeng W; Zhao J; Zhou X
    Hum Genet; 2022 Aug; 141(8):1339-1353. PubMed ID: 35050399
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.