BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 37120754)

  • 1. Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
    Yang K; Fu LM; Chu XY; Zhang J; Chen WQ; Yan YS; Wang YP; Zhang DL; Yin CH; Guo Q
    Mol Genet Genomic Med; 2023 Jul; 11(7):e2186. PubMed ID: 37120754
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J; Bengani H; Campbell L; Anderson E; Sokhi K; Lam W; Riess A; Ansari M; Smithson S; Lees M; Mercer C; McKenzie K; Lengfeld T; Gener Querol B; Branney P; McKay S; Morrison H; Medina B; Robertson M; Kohlhase J; Gordon C; Kirk J; Wieczorek D; Fitzpatrick DR
    Hum Mol Genet; 2012 Sep; 21(18):3969-83. PubMed ID: 22692683
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
    Duley JA; Henman MG; Carpenter KH; Bamshad MJ; Marshall GA; Ooi CY; Wilcken B; Pinner JR
    Mol Genet Metab; 2016 Sep; 119(1-2):83-90. PubMed ID: 27370710
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
    Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Saito T; Takazaki S; Kanki T; Yamaza H; Nonaka K; Kang D
    Biosci Rep; 2012 Dec; 32(6):631-9. PubMed ID: 22967083
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
    Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Takazaki S; Yamaza H; Nonaka K; Kang D
    Biosci Rep; 2013 Feb; 33(2):e00021. PubMed ID: 23216091
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the
    Yao Y; Deng S; Zhu F
    Genes (Basel); 2022 Jul; 13(7):. PubMed ID: 35886013
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Acrofacial dysostosis with postaxial limb deficiency.
    Fryns JP; Van den Berghe H
    Am J Med Genet; 1988 Jan; 29(1):205-8. PubMed ID: 3344768
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts.
    Fang J; Yamaza H; Uchiumi T; Hoshino Y; Masuda K; Hirofuji Y; Wagener FA; Kang D; Nonaka K
    Eur J Oral Sci; 2016 Jun; 124(3):241-5. PubMed ID: 27086500
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)].
    Doray B; Badila-Timbolschi D; Schaefer E; Fattori D; Monga B; Dott B; Favre R; Kohler M; Nisand I; Viville B; Kauffmann I; Bruant-Rodier C; Grollemund B; Rinkenbach R; Astruc D; Gasser B; Lindner V; Marcellin L; Flori E; Girard-Lemaire F; Dollfus H
    Arch Pediatr; 2012 Oct; 19(10):1021-9. PubMed ID: 22925539
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
    Shi L; Luo C; Ahmed MK; Attaie AB; Ye X
    Mol Genet Genomics; 2016 Apr; 291(2):863-72. PubMed ID: 26621368
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.
    Zhu L; Cao D; Chen M; Zhang H; Sun X; Liu W
    BMC Med Genomics; 2022 Jan; 15(1):16. PubMed ID: 35093090
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].
    Yan L; Tian L; Cao J; Zhou B; Zhang Y; Liu Y; Han C; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):791-794. PubMed ID: 34365627
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.
    Sylvester B; Brindopke F; Suzuki A; Giron M; Auslander A; Maas RL; Tsai B; Gao H; Magee W; Cox TC; Sanchez-Lara PA
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32784565
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
    Nur BG; Bernier FP; Oztekin O; Kardelen F; Kalay S; Parboosingh JS; Mihci E
    Am J Med Genet A; 2013 Sep; 161A(9):2311-5. PubMed ID: 23913624
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of
    Fang Y; Li S; Yu D
    Front Genet; 2023; 14():1075187. PubMed ID: 37007936
    [No Abstract]   [Full Text] [Related]  

  • 16. A novel splicing mutation of
    Yu Q; Deng Q; Fu F; Li R; Zhang W; Wan J; Yang X; Wang D; Li F; Wu S; Li J; Li D; Liao C
    J Matern Fetal Neonatal Med; 2022 Jul; 35(13):2499-2506. PubMed ID: 32698641
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial postaxial acrofacial dysostosis syndrome.
    Giannotti A; Digilio MC; Virgili Q; Obregon MG; Guadagni AM; Ventura T; Dallapiccola B
    J Med Genet; 1992 Oct; 29(10):752. PubMed ID: 1433242
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.
    Pu L; Dai X; Liu D; Wang Y; Liu H; He X; Chen J
    Prenat Diagn; 2023 Sep; 43(10):1370-1373. PubMed ID: 37587573
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
    Orozco Rodriguez JM; Wacklin-Knecht H; Knecht W
    Nucleosides Nucleotides Nucleic Acids; 2022; 41(12):1337-1358. PubMed ID: 35184687
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chromosomal microarray analysis in the prenatal diagnosis of orofacial clefts: Experience from a single medical center in mainland China.
    Jin H; Yingqiu C; Zequn L; Yanjun H; Yunyan Z; Shufan Z; Yiyang C; Ru L; Li Z; Yongling Z; Hongtao W; Can L
    Medicine (Baltimore); 2018 Aug; 97(34):e12057. PubMed ID: 30142861
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.