BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 31454184)

  • 1. 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]  

  • 2. Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
    Wang H; Huo L; Wang Y; Sun W; Gu W
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1779. PubMed ID: 34405590
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the
    Boluda-Navarro M; Ibáñez M; Liquori A; Franco-Jarava C; Martínez-Gallo M; Rodríguez-Vega H; Teresa J; Carreras C; Such E; Zúñiga Á; Colobran R; Cervera JV
    Front Immunol; 2021; 12():625591. PubMed ID: 33868243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
    Niida Y; Kuroda M; Mitani Y; Yokoi A; Ozaki M
    J Hum Genet; 2012 Oct; 57(10):687-90. PubMed ID: 22854541
    [TBL] [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. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
    van Riesen AK; Antonicka H; Ohlenbusch A; Shoubridge EA; Wilichowski EK
    Neuropediatrics; 2006 Apr; 37(2):88-94. PubMed ID: 16773507
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
    Ponzi E; Alesi V; Lepri FR; Genovese S; Loddo S; Mucciolo M; Novelli A; Dionisi-Vici C; Maiorana A
    Mol Genet Genomic Med; 2019 May; 7(5):e634. PubMed ID: 30916492
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H
    Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern.
    Niida Y; Ozaki M; Shimizu M; Ueno K; Tanaka T
    Cytogenet Genome Res; 2018; 154(3):137-146. PubMed ID: 29656286
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
    Tamura M; Isojima T; Kawashima M; Yoshida H; Yamamoto K; Kitaoka T; Namba N; Oka A; Ozono K; Tokunaga K; Kitanaka S
    PLoS One; 2015; 10(7):e0131157. PubMed ID: 26153892
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Perinatal hypophosphatasia caused by uniparental isodisomy.
    Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
    Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
    [TBL] [Abstract][Full Text] [Related]  

  • 14. How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
    Verebi C; Caumes R; Chantot-Bastaraud S; Deburgrave N; Orhant L; Vaucouleur N; Cuisset L; Bienvenu T; Leturcq F; Nectoux J
    Neuromuscul Disord; 2023 May; 33(5):367-370. PubMed ID: 36996638
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
    Labrijn-Marks I; Somers-Bolman GM; In 't Groen SLM; Hoogeveen-Westerveld M; Kroos MA; Ala-Mello S; Amaral O; Miranda CS; Mavridou I; Michelakakis H; Naess K; Verheijen FW; Hoefsloot LH; Dijkhuizen T; Benjamins M; van den Hout HJM; van der Ploeg AT; Pijnappel WWMP; Saris JJ; Halley DJ
    Eur J Hum Genet; 2019 Jun; 27(6):919-927. PubMed ID: 30737479
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the
    Molloy B; Jones ER; Linhares ND; Buckley PG; Leahy TR; Lynch B; Knerr I; King MD; Gorman KM
    Front Genet; 2022; 13():945296. PubMed ID: 36186440
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
    Douglas GV; Wiszniewska J; Lipson MH; Witt DR; McDowell T; Sifry-Platt M; Hirano M; Craigen WJ; Wong LJ
    J Hum Genet; 2011 Dec; 56(12):834-9. PubMed ID: 22011815
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.
    Fu J; Shen S; Cheng J; Lv H; Fu J
    J Cell Mol Med; 2020 Jul; 24(14):7743-7750. PubMed ID: 32449591
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.
    López-Garrido MP; Campos-Mollo E; Harto MA; Escribano J
    Clin Genet; 2009 Dec; 76(6):552-7. PubMed ID: 19807744
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing.
    Li H; Wang L; Zhang C
    Mol Genet Genomic Med; 2023 Feb; 11(2):e2110. PubMed ID: 36464789
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.