BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 35806387)

  • 1. 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]  

  • 2. 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]  

  • 3. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
    Perrault I; Hamdan FF; Rio M; Capo-Chichi JM; Boddaert N; Décarie JC; Maranda B; Nabbout R; Sylvain M; Lortie A; Roux PP; Rossignol E; Gérard X; Barcia G; Berquin P; Munnich A; Rouleau GA; Kaplan J; Rozet JM; Michaud JL
    Am J Hum Genet; 2014 Jun; 94(6):891-7. PubMed ID: 24814191
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
    Haberlandt E; Valovka T; Janjic T; Müller T; Blatsios G; Karall D; Janecke AR
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1607. PubMed ID: 33471954
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with
    Motta FL; Filippelli-Silva R; Kitajima JP; Batista DA; Wohler ES; Sobreira NL; Martin RP; Ferraz Sallum JM
    Ophthalmic Genet; 2021 Oct; 42(5):553-560. PubMed ID: 34157943
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
    Nishino M; Tanaka M; Imagawa K; Yaita K; Enokizono T; Ohto T; Suzuki H; Yamada M; Takenouchi T; Kosaki K; Takada H
    Am J Med Genet A; 2024 Jul; 194(7):e63575. PubMed ID: 38407561
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
    Davids M; Markello T; Wolfe LA; Chepa-Lotrea X; Tifft CJ; Gahl WA; Malicdan MCV
    Hum Mutat; 2019 Jan; 40(1):42-47. PubMed ID: 30362252
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 13. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.
    Niida Y; Yokoi A; Kuroda M; Mitani Y; Nakagawa H; Ozaki M
    Brain Dev; 2016 Aug; 38(7):674-7. PubMed ID: 26846731
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Case Report: A Case of Epileptic Disorder Associated With a Novel
    Chen W; Chen F; Shen Y; Yang Z; Qin J
    Front Genet; 2021; 12():743833. PubMed ID: 34691156
    [No Abstract]   [Full Text] [Related]  

  • 18. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
    Jiang L; Bi S; Lin L; He F; Deng F
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2269. PubMed ID: 37593999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
    Wang Y; Yu D; Wei W; Zheng H; Liu MH; Ma L; Qin LN; Wang NZ; Li JX; Wang JJ; Bi XL; Yan HL
    BMC Med Genomics; 2022 Jun; 15(1):136. PubMed ID: 35717189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.