BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 28511025)

  • 1. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
    Mameesh M; Ganesh A; Harikrishna B; Al Zuhaibi S; Scott P; Al Kalbani S; Al Thihli K
    Ophthalmic Genet; 2017 Dec; 38(6):544-548. PubMed ID: 28511025
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
    Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC
    Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
    Ayala-Ramirez R; Graue-Wiechers F; Robredo V; Amato-Almanza M; Horta-Diez I; Zenteno JC
    Mol Vis; 2006 Dec; 12():1483-9. PubMed ID: 17167404
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
    Paun CC; Pijl BJ; Siemiatkowska AM; Collin RW; Cremers FP; Hoyng CB; den Hollander AI
    Mol Vis; 2012; 18():2447-53. PubMed ID: 23077403
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
    Godinho G; Madeira C; Grangeia A; Neves-Cardoso P; Santos-Silva R; Brandão E; Carneiro Â; Falcão-Reis F; Estrela-Silva S
    Ophthalmic Genet; 2020 Oct; 41(5):474-479. PubMed ID: 32703043
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the
    Morillo Sánchez MJ; Llavero Valero P; González-Del Pozo M; Ponte Zuñiga B; Antiñolo G; Ramos Jiménez M; Rodríguez De La Rúa Franch E
    Ophthalmic Genet; 2019 Jun; 40(3):288-292. PubMed ID: 31264930
    [No Abstract]   [Full Text] [Related]  

  • 7. Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
    Neri A; Leaci R; Zenteno JC; Casubolo C; Delfini E; Macaluso C
    Mol Vis; 2012; 18():2623-32. PubMed ID: 23112574
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Vanden Heuvel C; Aldred B; Boulter T; Sullivan R; Ver Hoeve J; Schmitt M
    Ophthalmic Genet; 2023 Feb; 44(1):83-88. PubMed ID: 35880649
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
    Zenteno JC; Buentello-Volante B; Quiroz-González MA; Quiroz-Reyes MA
    Mol Vis; 2009 Sep; 15():1794-8. PubMed ID: 19753314
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.
    Zacharias LC; Susanna R; Sundin O; Finzi S; Susanna BN; Takahashi WY
    Retin Cases Brief Rep; 2015; 9(1):61-3. PubMed ID: 25383852
    [TBL] [Abstract][Full Text] [Related]  

  • 11. NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.
    Kovacs KD; Van Tassel SH; Gupta MP
    Retin Cases Brief Rep; 2023 May; 17(3):269-272. PubMed ID: 34293777
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family.
    Ren X; Gao Y; Lin Y; Fu X; Xiao L; Wang X; Zeng Z; Bao L; Yan N; Zhang M; Tang L
    Front Med (Lausanne); 2022; 9():835621. PubMed ID: 35402469
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
    Xu Q; Tang H; Duan L; Zuo X; Shi X; Li Y; Zhao H; Zhang H
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1568. PubMed ID: 33280276
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
    Skakic A; Andjelkovic M; Tosic N; Klaassen K; Djordjevic M; Pavlovic S; Stojiljkovic M
    Gene; 2019 Jun; 703():17-25. PubMed ID: 30951856
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
    Qiu ZQ; Lu CX; Wang W; Qiu JJ; Wei M
    Zhonghua Er Ke Za Zhi; 2011 Mar; 49(3):203-8. PubMed ID: 21575371
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
    Kannabiran C; Singh H; Sahini N; Jalali S; Mohan G
    Mol Vis; 2012; 18():1165-74. PubMed ID: 22605927
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
    Mukhopadhyay R; Sergouniotis PI; Mackay DS; Day AC; Wright G; Devery S; Leroy BP; Robson AG; Holder GE; Li Z; Webster AR
    Mol Vis; 2010 Mar; 16():540-8. PubMed ID: 20361016
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
    Oguz MM; Aykan E; Yilmaz G; Aytekin C; Karaer K; Açoğlu EA
    Genet Couns; 2014; 25(4):389-94. PubMed ID: 25804016
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
    Kure S; Suzuki Y; Matsubara Y; Sakamoto O; Shintaku H; Isshiki G; Hoshida C; Izumi I; Sakura N; Narisawa K
    Biochem Biophys Res Commun; 1998 Jul; 248(2):426-31. PubMed ID: 9675154
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
    Metlapally R; Li YJ; Tran-Viet KN; Bulusu A; White TR; Ellis J; Kao D; Young TL
    Mol Vis; 2008 Mar; 14():387-93. PubMed ID: 18334955
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.