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 *

133 related articles for article (PubMed ID: 35736209)

  • 1. A recurrent variant in
    Berry V; Fujinami K; Mochizuki K; Iwata T; Pontikos N; Quinlan RA; Michaelides M
    Ophthalmic Genet; 2022 Oct; 43(5):622-626. PubMed ID: 35736209
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel missense mutation in
    Berry V; Pontikos N; Dudakova L; Moore AT; Quinlan R; Liskova P; Michaelides M
    Ophthalmic Genet; 2020 Apr; 41(2):131-134. PubMed ID: 32202185
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
    Goyal S; Singh R; Singh JR; Vanita V
    BMC Genomics; 2024 Jan; 25(1):31. PubMed ID: 38178039
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
    Berry V; Ionides A; Pontikos N; Moghul I; Moore AT; Quinlan RA; Michaelides M
    Genes (Basel); 2020 May; 11(5):. PubMed ID: 32384692
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation of
    Pei R; Liang PF; Ye W; Li J; Ma JY; Zhou J
    Int J Ophthalmol; 2020; 13(10):1512-1520. PubMed ID: 33078099
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
    Irum B; Khan SY; Ali M; Kaul H; Kabir F; Rauf B; Fatima F; Nadeem R; Khan AO; Al Obaisi S; Naeem MA; Nasir IA; Khan SN; Husnain T; Riazuddin S; Akram J; Eghrari AO; Riazuddin SA
    PLoS One; 2016; 11(11):e0162620. PubMed ID: 27814360
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A missense mutation in LIM2 causes autosomal recessive congenital cataract.
    Ponnam SP; Ramesha K; Tejwani S; Matalia J; Kannabiran C
    Mol Vis; 2008 Jun; 14():1204-8. PubMed ID: 18596884
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
    Berry V; Ionides ACW; Pontikos N; Moghul I; Moore AT; Cheetham ME; Michaelides M
    Eye (Lond); 2018 May; 32(10):1661-1668. PubMed ID: 29934635
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The genetic landscape of crystallins in congenital cataract.
    Berry V; Ionides A; Pontikos N; Georgiou M; Yu J; Ocaka LA; Moore AT; Quinlan RA; Michaelides M
    Orphanet J Rare Dis; 2020 Nov; 15(1):333. PubMed ID: 33243271
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant.
    Steele EC; Wang JH; Lo WK; Saperstein DA; Li X; Church RL
    Mol Vis; 2000 Jun; 6():85-94. PubMed ID: 10851259
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
    Berry V; Pontikos N; Moore A; Ionides ACW; Plagnol V; Cheetham ME; Michaelides M
    Eye (Lond); 2018 Apr; 32(4):806-812. PubMed ID: 29243736
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenic variants in the
    Berry V; Pontikos N; Ionides A; Kalitzeos A; Quinlan RA; Michaelides M
    Ophthalmic Genet; 2022 Apr; 43(2):218-223. PubMed ID: 34748434
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the
    Wang X; Qin Y; Abudoukeremuahong A; Dongye M; Zhang X; Wang D; Li J; Lin Z; Yang Y; Ding L; Lin H
    Ann Transl Med; 2021 Feb; 9(3):235. PubMed ID: 33708862
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
    Wang Q; Lin X; Lai K; Liu Y; Qin T; Tan H; Li J; Lin Z; Zhang X; Li X; Lin H; Chen W
    BMC Med Genomics; 2023 Oct; 16(1):241. PubMed ID: 37828500
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.
    Yuan L; Yi J; Lin Q; Xu H; Deng X; Xiong W; Xiao J; Jiang C; Yuan X; Chen Y; Deng H
    QJM; 2016 Nov; 109(11):731-735. PubMed ID: 27081207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
    Chograni M; Chaabouni M; Mâazoul F; Bouzid H; Kraiem A; Chaabouni HB
    BMC Ophthalmol; 2011 Nov; 11():35. PubMed ID: 22103961
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.
    Puk O; Ahmad N; Wagner S; de Angelis MH; Graw J
    Mol Vis; 2011; 17():1164-71. PubMed ID: 21617753
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
    Reis LM; Tyler RC; Semina EV
    Mol Vis; 2014; 20():836-42. PubMed ID: 24940039
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Multimorbidity due to novel pathogenic variants in the
    Berry V; Ionides A; Georgiou M; Quinlan RA; Michaelides M
    BMJ Open Ophthalmol; 2023 Jul; 8(1):. PubMed ID: 37493686
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel compound heterozygous variant of
    Lin Y; Chen X; Liang C; Li D; Liu L; Li X
    Eur J Ophthalmol; 2023 Sep; 33(5):NP1-NP4. PubMed ID: 36262071
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.