BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 38243972)

  • 1. Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.
    Soares MP; Travessa AM; Custódio S; Pereira C; Pinto P; Sousa AB
    Endocr Metab Immune Disord Drug Targets; 2024 Jan; ():. PubMed ID: 38243972
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    Lake NJ; Webb BD; Stroud DA; Richman TR; Ruzzenente B; Compton AG; Mountford HS; Pulman J; Zangarelli C; Rio M; Boddaert N; Assouline Z; Sherpa MD; Schadt EE; Houten SM; Byrnes J; McCormick EM; Zolkipli-Cunningham Z; Haude K; Zhang Z; Retterer K; Bai R; Calvo SE; Mootha VK; Christodoulou J; Rötig A; Filipovska A; Cristian I; Falk MJ; Metodiev MD; Thorburn DR
    Am J Hum Genet; 2017 Aug; 101(2):239-254. PubMed ID: 28777931
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review].
    Shen MX; Ji XN; Wu F; Gao YY; Feng S; Xie LN; Zheng P; Mao YY; Chen Q
    Zhonghua Er Ke Za Zhi; 2023 Jul; 61(7):642-647. PubMed ID: 37385809
    [No Abstract]   [Full Text] [Related]  

  • 4. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
    Horga A; Manole A; Mitchell AL; Bugiardini E; Hargreaves IP; Mowafi W; Bettencourt C; Blakely EL; He L; Polke JM; Woodward CE; Dalla Rosa I; Shah S; Pittman AM; Quinlivan R; Reilly MM; Taylor RW; Holt IJ; Hanna MG; Pitceathly RDS; Spinazzola A; Houlden H
    Mol Biol Rep; 2021 Mar; 48(3):2093-2104. PubMed ID: 33742325
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
    Xiao B; Wang L; Liu H; Fan Y; Xu Y; Sun Y; Qiu W
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00945. PubMed ID: 31454184
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [The study of mitochondrial disorder pedigree associated with FASTKD2 variants and uniparental disomy].
    Ma YN; Lin LL; Zhang Y; Li L; Wu HR; Xiao Y; Pan H; Yang YL; Qi Y
    Zhonghua Yi Xue Za Zhi; 2023 Jan; 103(3):171-177. PubMed ID: 36649987
    [No Abstract]   [Full Text] [Related]  

  • 7. LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
    Soler-Palacín P; Garcia-Prat M; Martín-Nalda A; Franco-Jarava C; Rivière JG; Plaja A; Bezdan D; Bosio M; Martínez-Gallo M; Ossowski S; Colobran R
    Front Immunol; 2018; 9():2397. PubMed ID: 30386343
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
    Khan AU; Khan I; Khan MI; Latif M; Siddiqui MI; Khan SU; Htar TT; Wahid G; Ullah I; Bibi F; Khan A; Naseer MI; Seo GH; Jelani M
    Am J Med Genet A; 2022 Sep; 188(9):2693-2700. PubMed ID: 35703069
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity for a Novel
    Kivrak Pfiffner F; Koller S; Ménétrey A; Graf U; Bähr L; Maspoli A; Hackenberg A; Kottke R; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806387
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
    Zhang P; Wu B; Lu Y; Ni Q; Liu R; Zhou W; Wang H
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1144. PubMed ID: 31985178
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
    Liu J; Chen B; Liu Y; Kong J; Zhang B; Han L; Mei D; Ma CY; Shang Q; Xie Z; Xiao M; Mei S; Zhang Y; Gao C; Li D
    Eur J Med Genet; 2022 Sep; 65(9):104554. PubMed ID: 35793769
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.
    Jiang L; Chen S
    Front Immunol; 2024; 15():1351076. PubMed ID: 38504982
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel
    Tao Y; Han D; Wei Y; Wang L; Song W; Li X
    Front Genet; 2021; 12():747422. PubMed ID: 34594366
    [No Abstract]   [Full Text] [Related]  

  • 14. A novel
    Lenzini L; Carecchio M; Iori E; Legati A; Lamantea E; Avogaro A; Vitturi N
    Mol Genet Metab Rep; 2022 Mar; 30():100830. PubMed ID: 34938649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
    Li N; Ding YU; Yu T; Li J; Shen Y; Wang X; Fu Q; Shen Y; Huang X; Wang J
    Exp Ther Med; 2016 Jun; 11(6):2247-2253. PubMed ID: 27284308
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
    Piro E; Serra G; Antona V; Giuffrè M; Giorgio E; Sirchia F; Schierz IAM; Brusco A; Corsello G
    Ital J Pediatr; 2020 Sep; 46(1):140. PubMed ID: 32972427
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Ueda K; Ogawa S; Matsuda K; Hasegawa Y; Nishi E; Yanagi K; Kaname T; Yamamoto T; Okamoto N
    Am J Med Genet A; 2021 Oct; 185(10):3092-3098. PubMed ID: 34042275
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the
    Yıldırım M; Bektaş Ö; Tunçez E; Yeniay Süt N; Sayar Y; Öncül Ü; Teber S
    Mol Syndromol; 2022 Feb; 13(2):139-145. PubMed ID: 35418828
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
    Sezer A; Kayhan G; Koç A; Ergün MA; Perçin FE
    Cytogenet Genome Res; 2020; 160(6):309-315. PubMed ID: 32599602
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.
    Ashraf AP; Hurst ACE; Garg A
    J Clin Lipidol; 2017; 11(3):757-762. PubMed ID: 28438574
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.